Carlos Milla
#5902 Rare Genetic Disorders Study
Contact Information
Stanford University School of Medicine 300 Pasteur Drive Stanford, CA 94305Brief
The reason for doing this study is to see if doctors can develop better ways to diagnose and treat special lung problems. These lung problems are called primary ciliary dyskinesia (PCD), variant cystic fibrosis (CF) or pseudohypoaldosteronism (PHA). They also want to identify genes that may cause PCD. When people have these lung problems mucus and other substances don't get moved out of the lung very well. This can lead to breathing problems or lung infections.
Recruiting Status:
RecruitingStanford Recruiting Status:
RecruitingCondition(s):
Intervention(s):
Phase:
N/AEligibility
Ages Eligible for Study:
Any Age to Any AgeGenders Eligible for Study:
FemaleHealth of Volunteers:
People with the conditions listed in this trial can participate as controls.Key Inclusion Criteria:
The criteria for participants to enter the study mandates that each patient receiving a standard (current clinical practice) diagnostic evaluation, prior to enrolling in the Consortium study.
To enter the study, individuals must meet one of 3 profiles:
Profile one:
o High suspicion for the diagnosis of PCD, based on ciliary ultrastructural changes on Electron Microscopy (EM), or clinical features:
o chronic sino-pulmonary disease
o chronic otitis media
o history of neonatal respiratory distress
o situs inversus
o OR PCD in a sibling and one of the clinical features of PCD.
Profile two:
o Have chronic sino-pulmonary disease with clinical features that overlap with variant CF and PCD, but with diagnostic tests to rule out classical CF (sweat chloride testing and CF gene mutation screening).
Profile three:
o Known or suspected PHA (or variant PHA), which might include elevated (or borderline) sweat chloride values. Informed consent by participant or parent/legal guardian of minor participants
Key Exclusion Criteria:
o A participant should not be in the study if they have not had a comprehensive clinical evaluation to rule out other disorders of chronic sino-pulmonary disease.
o Pregnancy
Additional Study Details
Official Title:
Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic TestsAnticipated start date:
11/1/2008Lead Sponsor:
NIHCollaborator(s):
- National Center for Research Resources
- Office of Rare Diseases
Investigator(s):
- Carlos Milla
- Richard B Moss
- Carol K. Conrad
- Terry Earl Robinson
- David N Cornfield
- Lauren J Witcoff
- Paul K Mohabir
- John David Mark
- Dr. Jacquelyn Marie Zirbes DNP
- Zoe Davies RN
- Colleen Dunn RCP
- Martha Hamilton
- Yan Ki Angela Leung
- Daisy Carolina Diaz
Study Type:
ObservationalPurpose:
NOTNEEDEDDuration:
LongitudinalSelection:
Defined PopulationTiming:
ProspectiveTotal Number to be Enrolled:
360Total Number to be Enrolled at Stanford:
0More Information
Locations & Contacts
Stanford Locations & Contacts:
Stanford University School of Medicine 300 Pasteur Drive Stanford, CA 94305Non-Stanford Locations:
The Stanford website does not have any locations outside of Stanford listed for this trial. You may want to check clinicaltrials.gov for posible additional locations.
This listing was last updated:
11/11/2008PLEASE NOTE:
Study Coordinators and Research Nurses cannot give medical advice over the phone. Telephone numbers are provided for obtaining additional information on specific clinical research trials only. If you have specific questions which require clinical expertise, please call your primary care physician. If you do not have a primary care physician please feel free to call the SHC Physician Referral Service at (800) 756-9000 or send an email.
Help