Clinical Trials Unit
Stanford University School of Medicine's Center for Advanced Dermatologic Investigation is the Dermatology Department's clinical trials unit.
The Center is home to 12-15 ongoing clinical studies, investigating the safety and efficacy of new and currently available drugs and over-the-counter medications. The Center works with Stanford's own panel on medical research, leading pharmaceutical companies,and the Food and Drug Administration to safely and ethically expand the medical field's knowledge of dermatologic treatments. New studies begin regularly, and the Center continues to recruit patients with skin aging, sun damage, skin cancer (including basal cell carcinomas), psoriasis, atopic dermatitis, rosacea, and other dermatologic diseases for ongoing studies.
Skin Aging Studies
We seek to understand the human aging processes as it relates to skin on a fundamental level. To this end, our studies focus on clinical and translational research efforts ranging from: (1) the analysis of gene changes which predispose individuals to exceptionally youthful skin to (2) molecular signatures that may be biomarkers for aging skin to (3) the careful study of new candidate agents which might affect the skin aging process.
Nonmelanoma Skin Cancer
Recent advances in our understanding of basal cell skin cancer biology have enabled the development of cutting edge study drugs which combat tumor growth. We are currently home to a number of clinical trials at the forefront of potential therapy for advanced or metastatic basal cell cancer. In addition, we seek to understand the biology of basal cell skin cancers and to identify molecular predictors for treatment success.
Acne Rosecea
This is a common and frustrating chronic inflammatory condition of the face, usually affecting older individuals. The causes of this complex condition are the subject of much study. Our clinical studies seek to identify new topical or oral medications to improve the symptoms of acne rosacea.
Contact
For more information, please email dermtrials@stanford.edu
Featured Clinical Trials
-
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.
Investigator
Now accepting new patients View Details -
Safety and Tolerability of WVE-210201 in Patients With Duchenne Muscular Dystrophy
This is a Phase 1, double-blind, placebo-controlled, single ascending dose cohort study to evaluate the safety, tolerability, and plasma concentrations of WVE-210201 in ambulatory and non-ambulatory male pediatric patients with DMD amenable to exon 51 skipping intervention.
Now accepting new patients View Details -
Study of an Investigational Drug, RO7239361 (BMS-986089), in Ambulatory Boys With DMD
The purpose of this study is to determine the safety and tolerability of RO7239361 in boys with Duchenne Muscular Dystrophy with any genetic mutation.
Now accepting new patients View Details -
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
Investigator
Now accepting new patients View Details -
Study of Eteplirsen in DMD Patients
The main objective of this study is to provide evidence of efficacy of eteplirsen (AVI-4658) in Duchenne muscular dystrophy (DMD) patients that are amenable to skipping exon 51. Additional objectives include evaluation of safety, biomarkers and the long-term effects of eteplirsen up to 96 weeks, followed by a safety extension (not to exceed 48 weeks).
Now accepting new patients View Details -
Safety Study of Eteplirsen to Treat Early Stage Duchenne Muscular Dystrophy
This is an open-label study to assess the safety, tolerability, efficacy and pharmacokinetics of eteplirsen in patients with early stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping.
Now accepting new patients View Details -
Patient Functioning and Well-being, Economic, and Clinical Impact of Hemophilia A and Its Treatment
The purpose of the study is to improve the understanding of key patient reported outcomes such as quality of life as well as clinical outcomes in hemophilia A, in a global real world setting.
Investigator
Now accepting new patients View Details -
Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
This is a study to determine the safety and efficacy of liothyronine sodium/triiodothyronine (Triostat), a synthetic thyroid hormone, when given to infants with congenital heart disease during cardiopulmonary bypass surgery. Funding Source - FDA OOPD.
Investigator
Now accepting new patients View Details -
Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1
Phase 3 pivotal US trial studying open-label intravenous administration of onasemnogene abeparvovec-xioi in spinal muscular atrophy (SMA) Type 1 participants.
Now accepting new patients View Details -
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
Investigator
Now accepting new patients View Details -
Exercise in Genetic Cardiovascular Conditions
The goal is to determine how lifestyle and exercise impact the well-being of individuals with hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS).
Ancillary study Aim: To understand how the coronavirus epidemic is impacting psychological health and quality of life in the LIVE populationInvestigator
Now accepting new patients View Details -
Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy
The purpose of this study is to assess the safety and biological activity of ATYR1940 in participants with early onset FSHD.
Now accepting new patients View Details -
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases....
Investigators
Now accepting new patients View Details -
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
The objective of this study was to evaluate the efficacy and safety of treatment with 4000 litre (L) alglucosidase alfa (Lumizyme®) in Pompe participants.
Now accepting new patients View Details -
A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
A Phase 1/2 Open-label Study in Patients with Arginase I Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of Intravenous AEB1102. This study is designed to evaluate the safety and tolerability of IV administration of AEB1102 for the treatment of pediatric and adult patients with Arginase I deficiency and hyperargininemia. This study will be conducted in 2 parts: Part 1 (Single Ascending Dose Escalation) and Part 2 (Repeated Dosing). Each part will be preceded by a baseline assessment of arginine levels. All patients who participate in Part 1 may continue AEB1102 dosing in Part 2 if they qualify for continued dosing. A data safety monitoring board (DSMB) will provide independent review of study safety data and recommend whether the sponsor should continue the study as planned, modify the study protocol, or discontinue the study.
Investigator
Now accepting new patients View Details -
Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency
This Phase 3 study evaluated the efficacy and safety of 1 milligram/kilogram (mg/kg) intravenous (IV) infusions of SBC-102 (sebelipase alfa) administered every other week (qow) in participants with late onset lysosomal acid lipase deficiency (LAL-D) (cholesteryl ester storage disease [CESD]).
Late-onset LAL-D is an underappreciated cause of cirrhosis, liver failure and dyslipidemia. There is currently no standard treatment for LAL-D other than supportive care. Enzyme replacement therapy may be a potential new treatment option for LAL-D participants.Investigator
Now accepting new patients View Details
Psoriasis Clinical Trials
-
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.
Investigator
Now accepting new patients View Details -
Study of an Investigational Drug, RO7239361 (BMS-986089), in Ambulatory Boys With DMD
The purpose of this study is to determine the safety and tolerability of RO7239361 in boys with Duchenne Muscular Dystrophy with any genetic mutation.
Now accepting new patients View Details -
Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
This is a study to determine the safety and efficacy of liothyronine sodium/triiodothyronine (Triostat), a synthetic thyroid hormone, when given to infants with congenital heart disease during cardiopulmonary bypass surgery. Funding Source - FDA OOPD.
Investigator
Now accepting new patients View Details -
Study of Eteplirsen in DMD Patients
The main objective of this study is to provide evidence of efficacy of eteplirsen (AVI-4658) in Duchenne muscular dystrophy (DMD) patients that are amenable to skipping exon 51. Additional objectives include evaluation of safety, biomarkers and the long-term effects of eteplirsen up to 96 weeks, followed by a safety extension (not to exceed 48 weeks).
Now accepting new patients View Details -
Safety Study of Eteplirsen to Treat Early Stage Duchenne Muscular Dystrophy
This is an open-label study to assess the safety, tolerability, efficacy and pharmacokinetics of eteplirsen in patients with early stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping.
Now accepting new patients View Details -
Patient Functioning and Well-being, Economic, and Clinical Impact of Hemophilia A and Its Treatment
The purpose of the study is to improve the understanding of key patient reported outcomes such as quality of life as well as clinical outcomes in hemophilia A, in a global real world setting.
Investigator
Now accepting new patients View Details -
Safety and Tolerability of WVE-210201 in Patients With Duchenne Muscular Dystrophy
This is a Phase 1, double-blind, placebo-controlled, single ascending dose cohort study to evaluate the safety, tolerability, and plasma concentrations of WVE-210201 in ambulatory and non-ambulatory male pediatric patients with DMD amenable to exon 51 skipping intervention.
Now accepting new patients View Details -
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
Investigator
Now accepting new patients View Details -
Exercise in Genetic Cardiovascular Conditions
The goal is to determine how lifestyle and exercise impact the well-being of individuals with hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS).
Ancillary study Aim: To understand how the coronavirus epidemic is impacting psychological health and quality of life in the LIVE populationInvestigator
Now accepting new patients View Details -
Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy
The purpose of this study is to assess the safety and biological activity of ATYR1940 in participants with early onset FSHD.
Now accepting new patients View Details -
Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1
Phase 3 pivotal US trial studying open-label intravenous administration of onasemnogene abeparvovec-xioi in spinal muscular atrophy (SMA) Type 1 participants.
Now accepting new patients View Details -
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
Investigator
Now accepting new patients View Details -
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases....
Investigators
Now accepting new patients View Details -
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
The objective of this study was to evaluate the efficacy and safety of treatment with 4000 litre (L) alglucosidase alfa (Lumizyme®) in Pompe participants.
Now accepting new patients View Details -
A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
A Phase 1/2 Open-label Study in Patients with Arginase I Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of Intravenous AEB1102. This study is designed to evaluate the safety and tolerability of IV administration of AEB1102 for the treatment of pediatric and adult patients with Arginase I deficiency and hyperargininemia. This study will be conducted in 2 parts: Part 1 (Single Ascending Dose Escalation) and Part 2 (Repeated Dosing). Each part will be preceded by a baseline assessment of arginine levels. All patients who participate in Part 1 may continue AEB1102 dosing in Part 2 if they qualify for continued dosing. A data safety monitoring board (DSMB) will provide independent review of study safety data and recommend whether the sponsor should continue the study as planned, modify the study protocol, or discontinue the study.
Investigator
Now accepting new patients View Details -
Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency
This Phase 3 study evaluated the efficacy and safety of 1 milligram/kilogram (mg/kg) intravenous (IV) infusions of SBC-102 (sebelipase alfa) administered every other week (qow) in participants with late onset lysosomal acid lipase deficiency (LAL-D) (cholesteryl ester storage disease [CESD]).
Late-onset LAL-D is an underappreciated cause of cirrhosis, liver failure and dyslipidemia. There is currently no standard treatment for LAL-D other than supportive care. Enzyme replacement therapy may be a potential new treatment option for LAL-D participants.Investigator
Now accepting new patients View Details
Dermatology Clinical Trials
-
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.
Investigator
Now accepting new patients View Details -
Study of an Investigational Drug, RO7239361 (BMS-986089), in Ambulatory Boys With DMD
The purpose of this study is to determine the safety and tolerability of RO7239361 in boys with Duchenne Muscular Dystrophy with any genetic mutation.
Now accepting new patients View Details -
Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
This is a study to determine the safety and efficacy of liothyronine sodium/triiodothyronine (Triostat), a synthetic thyroid hormone, when given to infants with congenital heart disease during cardiopulmonary bypass surgery. Funding Source - FDA OOPD.
Investigator
Now accepting new patients View Details -
Study of Eteplirsen in DMD Patients
The main objective of this study is to provide evidence of efficacy of eteplirsen (AVI-4658) in Duchenne muscular dystrophy (DMD) patients that are amenable to skipping exon 51. Additional objectives include evaluation of safety, biomarkers and the long-term effects of eteplirsen up to 96 weeks, followed by a safety extension (not to exceed 48 weeks).
Now accepting new patients View Details -
Safety Study of Eteplirsen to Treat Early Stage Duchenne Muscular Dystrophy
This is an open-label study to assess the safety, tolerability, efficacy and pharmacokinetics of eteplirsen in patients with early stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping.
Now accepting new patients View Details -
Patient Functioning and Well-being, Economic, and Clinical Impact of Hemophilia A and Its Treatment
The purpose of the study is to improve the understanding of key patient reported outcomes such as quality of life as well as clinical outcomes in hemophilia A, in a global real world setting.
Investigator
Now accepting new patients View Details -
Safety and Tolerability of WVE-210201 in Patients With Duchenne Muscular Dystrophy
This is a Phase 1, double-blind, placebo-controlled, single ascending dose cohort study to evaluate the safety, tolerability, and plasma concentrations of WVE-210201 in ambulatory and non-ambulatory male pediatric patients with DMD amenable to exon 51 skipping intervention.
Now accepting new patients View Details -
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
Investigator
Now accepting new patients View Details -
Exercise in Genetic Cardiovascular Conditions
The goal is to determine how lifestyle and exercise impact the well-being of individuals with hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS).
Ancillary study Aim: To understand how the coronavirus epidemic is impacting psychological health and quality of life in the LIVE populationInvestigator
Now accepting new patients View Details -
Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy
The purpose of this study is to assess the safety and biological activity of ATYR1940 in participants with early onset FSHD.
Now accepting new patients View Details -
Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1
Phase 3 pivotal US trial studying open-label intravenous administration of onasemnogene abeparvovec-xioi in spinal muscular atrophy (SMA) Type 1 participants.
Now accepting new patients View Details -
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
Investigator
Now accepting new patients View Details -
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases....
Investigators
Now accepting new patients View Details -
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
The objective of this study was to evaluate the efficacy and safety of treatment with 4000 litre (L) alglucosidase alfa (Lumizyme®) in Pompe participants.
Now accepting new patients View Details -
A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
A Phase 1/2 Open-label Study in Patients with Arginase I Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of Intravenous AEB1102. This study is designed to evaluate the safety and tolerability of IV administration of AEB1102 for the treatment of pediatric and adult patients with Arginase I deficiency and hyperargininemia. This study will be conducted in 2 parts: Part 1 (Single Ascending Dose Escalation) and Part 2 (Repeated Dosing). Each part will be preceded by a baseline assessment of arginine levels. All patients who participate in Part 1 may continue AEB1102 dosing in Part 2 if they qualify for continued dosing. A data safety monitoring board (DSMB) will provide independent review of study safety data and recommend whether the sponsor should continue the study as planned, modify the study protocol, or discontinue the study.
Investigator
Now accepting new patients View Details -
Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency
This Phase 3 study evaluated the efficacy and safety of 1 milligram/kilogram (mg/kg) intravenous (IV) infusions of SBC-102 (sebelipase alfa) administered every other week (qow) in participants with late onset lysosomal acid lipase deficiency (LAL-D) (cholesteryl ester storage disease [CESD]).
Late-onset LAL-D is an underappreciated cause of cirrhosis, liver failure and dyslipidemia. There is currently no standard treatment for LAL-D other than supportive care. Enzyme replacement therapy may be a potential new treatment option for LAL-D participants.Investigator
Now accepting new patients View Details
Pediatric Dermatology Clinical Trials
-
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.
Investigator
Now accepting new patients View Details -
Safety and Tolerability of WVE-210201 in Patients With Duchenne Muscular Dystrophy
This is a Phase 1, double-blind, placebo-controlled, single ascending dose cohort study to evaluate the safety, tolerability, and plasma concentrations of WVE-210201 in ambulatory and non-ambulatory male pediatric patients with DMD amenable to exon 51 skipping intervention.
Now accepting new patients View Details -
Study of an Investigational Drug, RO7239361 (BMS-986089), in Ambulatory Boys With DMD
The purpose of this study is to determine the safety and tolerability of RO7239361 in boys with Duchenne Muscular Dystrophy with any genetic mutation.
Now accepting new patients View Details -
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
Investigator
Now accepting new patients View Details -
Study of Eteplirsen in DMD Patients
The main objective of this study is to provide evidence of efficacy of eteplirsen (AVI-4658) in Duchenne muscular dystrophy (DMD) patients that are amenable to skipping exon 51. Additional objectives include evaluation of safety, biomarkers and the long-term effects of eteplirsen up to 96 weeks, followed by a safety extension (not to exceed 48 weeks).
Now accepting new patients View Details -
Safety Study of Eteplirsen to Treat Early Stage Duchenne Muscular Dystrophy
This is an open-label study to assess the safety, tolerability, efficacy and pharmacokinetics of eteplirsen in patients with early stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping.
Now accepting new patients View Details -
Patient Functioning and Well-being, Economic, and Clinical Impact of Hemophilia A and Its Treatment
The purpose of the study is to improve the understanding of key patient reported outcomes such as quality of life as well as clinical outcomes in hemophilia A, in a global real world setting.
Investigator
Now accepting new patients View Details -
Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
This is a study to determine the safety and efficacy of liothyronine sodium/triiodothyronine (Triostat), a synthetic thyroid hormone, when given to infants with congenital heart disease during cardiopulmonary bypass surgery. Funding Source - FDA OOPD.
Investigator
Now accepting new patients View Details -
Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1
Phase 3 pivotal US trial studying open-label intravenous administration of onasemnogene abeparvovec-xioi in spinal muscular atrophy (SMA) Type 1 participants.
Now accepting new patients View Details -
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
Investigator
Now accepting new patients View Details -
Exercise in Genetic Cardiovascular Conditions
The goal is to determine how lifestyle and exercise impact the well-being of individuals with hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS).
Ancillary study Aim: To understand how the coronavirus epidemic is impacting psychological health and quality of life in the LIVE populationInvestigator
Now accepting new patients View Details -
Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy
The purpose of this study is to assess the safety and biological activity of ATYR1940 in participants with early onset FSHD.
Now accepting new patients View Details -
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases....
Investigators
Now accepting new patients View Details -
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
The objective of this study was to evaluate the efficacy and safety of treatment with 4000 litre (L) alglucosidase alfa (Lumizyme®) in Pompe participants.
Now accepting new patients View Details -
A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
A Phase 1/2 Open-label Study in Patients with Arginase I Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of Intravenous AEB1102. This study is designed to evaluate the safety and tolerability of IV administration of AEB1102 for the treatment of pediatric and adult patients with Arginase I deficiency and hyperargininemia. This study will be conducted in 2 parts: Part 1 (Single Ascending Dose Escalation) and Part 2 (Repeated Dosing). Each part will be preceded by a baseline assessment of arginine levels. All patients who participate in Part 1 may continue AEB1102 dosing in Part 2 if they qualify for continued dosing. A data safety monitoring board (DSMB) will provide independent review of study safety data and recommend whether the sponsor should continue the study as planned, modify the study protocol, or discontinue the study.
Investigator
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Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency
This Phase 3 study evaluated the efficacy and safety of 1 milligram/kilogram (mg/kg) intravenous (IV) infusions of SBC-102 (sebelipase alfa) administered every other week (qow) in participants with late onset lysosomal acid lipase deficiency (LAL-D) (cholesteryl ester storage disease [CESD]).
Late-onset LAL-D is an underappreciated cause of cirrhosis, liver failure and dyslipidemia. There is currently no standard treatment for LAL-D other than supportive care. Enzyme replacement therapy may be a potential new treatment option for LAL-D participants.Investigator
Now accepting new patients View Details
Showing 1 - 6 of 16 trials – Showing only trials currently accepting patients
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Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
Stanford is currently accepting patients for this trial. -
Study of an Investigational Drug, RO7239361 (BMS-986089), in Ambulatory Boys With DMD
Stanford is currently accepting patients for this trial. -
Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
Stanford is currently accepting patients for this trial. -
Study of Eteplirsen in DMD Patients
Stanford is currently accepting patients for this trial. -
Safety Study of Eteplirsen to Treat Early Stage Duchenne Muscular Dystrophy
Stanford is currently accepting patients for this trial. -
Patient Functioning and Well-being, Economic, and Clinical Impact of Hemophilia A and Its Treatment
Stanford is currently accepting patients for this trial. -
Safety and Tolerability of WVE-210201 in Patients With Duchenne Muscular Dystrophy
Stanford is currently accepting patients for this trial. -
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Stanford is currently accepting patients for this trial. -
Exercise in Genetic Cardiovascular Conditions
Stanford is currently accepting patients for this trial. -
Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy
Stanford is currently accepting patients for this trial. -
Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1
Stanford is currently accepting patients for this trial. -
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Stanford is currently accepting patients for this trial. -
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Stanford is currently accepting patients for this trial. -
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
Stanford is currently accepting patients for this trial. -
A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
Stanford is currently accepting patients for this trial. -
Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency
Stanford is currently accepting patients for this trial.
Showing 1 - 6 of 16 trials – Showing only trials currently accepting patients
-
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
Stanford is currently accepting patients for this trial. -
Study of an Investigational Drug, RO7239361 (BMS-986089), in Ambulatory Boys With DMD
Stanford is currently accepting patients for this trial. -
Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
Stanford is currently accepting patients for this trial. -
Study of Eteplirsen in DMD Patients
Stanford is currently accepting patients for this trial. -
Safety Study of Eteplirsen to Treat Early Stage Duchenne Muscular Dystrophy
Stanford is currently accepting patients for this trial. -
Patient Functioning and Well-being, Economic, and Clinical Impact of Hemophilia A and Its Treatment
Stanford is currently accepting patients for this trial. -
Safety and Tolerability of WVE-210201 in Patients With Duchenne Muscular Dystrophy
Stanford is currently accepting patients for this trial. -
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Stanford is currently accepting patients for this trial. -
Exercise in Genetic Cardiovascular Conditions
Stanford is currently accepting patients for this trial. -
Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy
Stanford is currently accepting patients for this trial. -
Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1
Stanford is currently accepting patients for this trial. -
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Stanford is currently accepting patients for this trial. -
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Stanford is currently accepting patients for this trial. -
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
Stanford is currently accepting patients for this trial. -
A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
Stanford is currently accepting patients for this trial. -
Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency
Stanford is currently accepting patients for this trial.