Van Haren Lab Publications

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach,
Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Bodesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A.
Molecular Genetics and Metabolism, Volume 142, Issue 1, 2024, 108453,
ISSN 1096-7192, https://doi.org/10.1016/j.ymgme.2024.108453.

A novel mouse model of cerebral adrenoleukodystrophy highlights NLRP3 activity in lesion pathogenesis.
Hashemi E, Srivastava IN, Aguirre A, Yoseph ET, Kaushal E, Awani A, Ryu JK, Akassoglou K, Talebian S, Chu P, Pisani L, Musolino P, Steinman L, Doyle K, Robinson WH, Sharpe O, Cayrol R, Orchard P, Lund T, Vogel H, Lenail M, Han MH, Bonkowsky JL, Van Haren KP.
bioRxiv. 2023 Nov 10:2023.11.07.564025. doi: 10.1101/2023.11.07.564025. Preprint. PMID: 37986739 Free PMC article.

Immunotherapy in Autoimmune Encephalitis: So Many Options, So Few Guidelines.
Srivastava IN, Van Haren KP.
Neurology. 2023 Nov 27;101(22):985-986. doi: 10.1212/WNL.0000000000208026. PMID: 37879941  

Brain Magnetic Resonance Imaging Abnormalities in Acute Flaccid Myelitis.
Caceres JA, Saucier L, Murphy OC, Gordon-Lipkin EM, Santoro JD, Van Haren K, Pardo CA, Hopkins S.
Pediatr Neurol. 2023 Dec;149:56-62. doi: 10.1016/j.pediatrneurol.2023.08.021. Epub 2023 Aug 19. PMID: 37797356 Review.

Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy.
Van Haren, KP, Wilkes J, Moser AB, Raymond GV, Richardson T, Aubourg P, Collins TW, Mowry EM, Bonkowsky JL.
Ann Child Neurol Soc. 18 April 2023 https://doi.org/10.1002/cns3.4

A Phase 1 Study of Oral Vitamin D₃ in Boys and Young Men With X-Linked Adrenoleukodystrophy.
Van Haren KP, Cunanan K, Awani A, Gu M, Peña D, Chromik LC, Považan M, Rossi NC, Goodman J, Sundaram V, Winterbottom J, Raymond GV, Cowan T, Enns GM, Waubant E, Steinman L, Barker, PB, Spielman D, Fatemi A.
Neurol Genet Apr 2023, 9 (2) e200061; DOI: 10.1212/NXG.0000000000200061

Effect of vitamin D supplementation on cerebral blood flow in male patients with adrenoleukodystrophy.
Zhao MY, Dahlen A, Ramirez NJ, Moseley M, Van Haren K, Zaharchuk G. Effect of vitamin D supplementation on cerebral blood flow in male patients with adrenoleukodystrophy.
J Neurosci Res. 2023 Jul;101(7):1086-1097. doi: 10.1002/jnr.25187. Epub 2023 Mar 26. PMID: 36967233.

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Lancet Neurol. 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1. PMID: 36681445.

Pulmonological issues.
Perez G, Young L, Kravitz R, Sheehan D, Adang L, Van Haren K, Lin JL, Jaffe NN, Kuo D, Ball L, Keller J, Sank J, DiVito D, Naime S.
Curr Probl Pediatr Adolesc Health Care. 2022 Dec 2:101313. doi: 10.1016/j.cppeds.2022.101313. Online ahead of print. PMID: 36470809

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC.
Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29. PMID: 36175155 

Peripheral T-Cells, B-Cells, and Monocytes from Multiple Sclerosis Patients Supplemented with High-Dose Vitamin D Show Distinct Changes in Gene Expression Profiles.
Kim D, Witt EE, Schubert S, Sotirchos E, Bhargava P, Mowry EM, Sachs K, Bilen B, Steinman L, Awani A, He Z, Calabresi PA, Van Haren K.
Nutrients. 2022 Nov 9;14(22):4737. doi: 10.3390/nu14224737.  

Vitamin D Status & Latitude Predict Brain Lesions in Adrenoleukodystrophy.
Van Haren K, Wilkes J, Moser AB, Raymond GV, Richardson T, Aubourg P, Collins TW, Mowry EM, Bonkowsky JL. 
medRxiv (preprint; currently under review) doi: https://doi.org/10.1101/2021.12.26.21268422

Nocturnal Hypoventilation as a Respiratory Complication of Acute Flaccid Myelitis.
Aziz-Bose R, Bhargava S, Buu M, Bove R, van Haren K.
J Pediatr. 2022 Sep;248:122-125. doi: 10.1016/j.jpeds.2022.05.032. Epub 2022 May 20. PMID: 35605645

Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment.
Mallack EJ, Van Haren KP, Torrey A, van de Stadt S, Engelen M, Raymond GV, Fatemi A, Eichler FS.
Neurology. 2022 Aug 1;99(5):e512-e520. doi: 10.1212/WNL.0000000000200571. PMID: 35609989 Free PMC article.

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
van de Stadt SIW, Mooyer PAW, Dijkstra IME, Dekker CJM, Vats D, Vera M, Ruzhnikov MRZ, van Haren K, Tang N, Koop K, Willemsen MA, Hui J, Vaz FM, Ebberink MS, Engelen M, Kemp S, Ferdinandusse S.
Genes (Basel). 2021 Nov 30;12(12):1930. doi: 10.3390/genes12121930. PMID: 34946879

Inadequate Vaccine Responses in Children With Multiple Sclerosis.
Santoro JD, Saucier LE, Tanna R, Wiegand SE, Pagarkar D, Tempchin AF, Khoshnood M, Ahsan N, Van Haren K.
Front Pediatr. 2021 Dec 1;9:790159. doi: 10.3389/fped.2021.790159. eCollection 2021. PMID: 34926358  

A variant of uncertain significance in SDHAF1, the succinate dehydrogenase chaperone protein, in an adult patient with spastic paraparesis and leukoencephalopathy.
Vlahovic L, Lock CB, Han MH, Van Haren K, Sampson JB.
Mult Scler Relat Disord. 2021 Sep;54:103132. doi: 10.1016/j.msard.2021.103132. Epub 2021 Jul 3. PMID: 34289436

Gastrostomy Tubes Placed in Children With Neurologic Impairment: Associated Morbidity and Mortality.
Lin JL, Rigdon J, Van Haren K, Buu M, Saynina O, Bhattacharya J, Owens DK, Sanders LM. J Child Neurol. 2021 Aug;36(9):727-734. doi: 10.1177/08830738211000179. Epub 2021 Mar 22. PMID: 33750232

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
Mallack EJ, Turk BR, Yan H, Price C, Demetres M, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A.
J Inherit Metab Dis. 2021 May;44(3):728-739. doi: 10.1002/jimd.12356. Epub 2021 Jan 9. PMID: 33373467 Free PMC article.

Acute flaccid myelitis: cause, diagnosis, and management.
Murphy OC, Messacar K, Benson L, Bove R, Carpenter JL, Crawford T, Dean J, DeBiasi R, Desai J, Elrick MJ, Farias-Moeller R, Gombolay GY, Greenberg B, Harmelink M, Hong S, Hopkins SE, Oleszek J, Otten C, Sadowsky CL, Schreiner TL, Thakur KT, Van Haren K, Carballo CM, Chong PF, Fall A, Gowda VK, Helfferich J, Kira R, Lim M, Lopez EL, Wells EM, Yeh EA, Pardo CA; AFM working group.
Lancet. 2020 Dec 21:S0140-6736(20)32723-9. doi: 10.1016/S0140-6736(20)32723-9. Online ahead of print. PMID: 33357469 Review.

MRI Surveillance of Boys with X-linked Adrenoleukodystrophy Identified by Newborn Screening: Meta-analysis and Consensus Guidelines.
Mallack EJ, Turk BR, Yan H, Price C, Mlis MD, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A.
J Inherit Metab Dis. 2020 Dec 29. doi: 10.1002/jimd.12356. Online ahead of print. PMID: 33373467

Five men with arresting and relapsing cerebral adrenoleukodystrophy.
Carlson AM, Huffnagel IC, Verrips A, van der Knaap M, Engelen M, Van Haren K.
J Neurol. 2020 Sep 29. PMID: 32995952 doi: 10.1007/s00415-020-10225-7  

Natural history of brain lesions in X-linked adrenoleukodystrophy: On-again, off-again.
Thompson Stone R, van Haren K.
Neurology. 2020 Jun. PMID: 32482840.

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser J, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ; LeukoSEQ Workgroup.
Ann Neurol. 2020 Apr 28. PMID: 32342562.

Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation.
Bey AL, Gorman MP, Gallentine W, Kohlenberg TM, Frankovich J, Jiang YH, Van Haren K.
Pediatrics. 2020 Feb;145(2):e20191490. PMID: 32015180.

Clinical approach to the diagnosis of autoimmune encephalitis in the pediatric patient.
Cellucci T, Van Mater H, Graus F, Muscal E, Gallentine W, Klein-Gitelman MS, Benseler SM, Frankovich J, Gorman MP, Van Haren K, Dalmau J, Dale RC.
Neurol Neuroimmunol Neuroinflamm. 2020 Jan 17;7(2):e663. PMID: 31953309; PMCID: PMC7051207.

Genetic and phenotypic spectrum associated with IFIH1 gain-of- function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ.
Hum Mutat. 2020 Apr;41(4):837-849. PMID: 31898846.

Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.
Gelfand JM, Greenfield AL, Barkovich M, Mendelsohn BA, Van Haren K, Hess CP, Mannis GN.
Brain. 2020 Feb 1;143(2):503-511. PMID: 31840744.

Pneumonia Prevention Strategies for Children WithNeurologic Impairment.
 Lin JL, Van Haren K, Rigdon J, Saynina O, Song H, Buu MC, Thakur Y, Srinivas N, Asch SM, Sanders LM.
Pediatrics. 2019 Oct;144(4):e20190543.  PMID: 31537634.

Incidence, Risk Factors and Outcomes Among Children With Acute Flaccid Myelitis: A Population-based Cohort Study in a California Health Network Between 2011 and 2016.
Kane MS, Sonne C, Zhu S, Malhotra A, Van Haren K, Messacar K, Glaser CA.
Pediatr Infect Dis J. 2019 Jul;38(7):667-672. PMID: 30985511.

Measuring early lesion growth in boys withcerebral demyelinating adrenoleukodystrophy.
van Haren K, Engelen M, Wolf N.
Neurology. 2019 Apr 9;92(15):691-693. PMID: 30902909.

Clinical Subpopulations in a Sample of North American Children Diagnosed With Acute Flaccid Myelitis, 2012-2016.
Elrick MJ, Gordon-Lipkin E, Crawford TO, Van Haren K, Messacar K, Thornton N, Dee E, Voskertchian A, Nance JR, Muñoz LS, Gorman MP, Benson LA, Thomas DL, Pardo CA, Milstone AM, Duggal P. 
JAMA Pediatr. 2019 Feb 1;173(2):134-139. PMID: 30500056; PMCID: PMC6439600.

Safety, tolerability, and efficacy of fluoxetine as an antiviral for acute flaccid myelitis.
Messacar K, Sillau S, Hopkins SE, Otten C, Wilson-Murphy M, Wong B, Santoro JD, Treister A, Bains HK, Torres A, Zabrocki L, Glanternik JR, Hurst AL, Martin JA, Schreiner T, Makhani N, DeBiasi RL, Kruer MC, Tremoulet AH, Van Haren K, Desai J, Benson LA, Gorman MP, Abzug MJ, Tyler KL, Dominguez SR.
Neurology. 2019 Apr 30;92(18):e2118-e2126. PMID: 30413631; PMCID: PMC6512883.

Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group, van der Knaap MS. 
Ann Neurol. 2018 Aug;84(2):274-288. PMID: 30014503; PMCID: PMC6175238.

Pediatric Bickerstaff brainstem encephalitis: a systematic review of literature and case series.
Santoro JD, Lazzareschi DV, Campen CJ, Van Haren KP. 
J Neurol. 2018 Jan;265(1):141-150. PMID: 29177548.

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A; Global Leukodystrophy Initiative (GLIA) Consortium.
Mol Genet Metab. 2017 Sep;122(1-2):18-32. PMID: 28863857

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A.
Mol Genet Metab. 2017 Nov;122(3):134-139. PMID: 28739201

Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings.
Song H, Haeri S, Vogel H, van der Knaap M, Van Haren K.
J Child Neurol. 2017 Sep;32(10):867-870. PMID: 28597716

Decision Making in Adrenoleukodystrophy: When Is a Good Outcome Really a Good Outcome?
Van Haren K, Engelen M.
JAMA Neurol. 2017 Jun 1;74(6):641-642. PMID: 28418445

Acute disseminated encephalomyelitis: Updates on an inflammatory CNS syndrome.
Pohl D, Alper G, Van Haren K, Kornberg AJ, Lucchinetti CF, Tenembaum S, Belman AL. 
Neurology. 2016 Aug 30;87(9 Suppl 2):S38-45. PMID: 27572859

Acute flaccid myelitis: A clinical review of US cases 2012-2015.
Messacar K, Schreiner TL, Van Haren K, Yang M, Glaser CA, Tyler KL, Dominguez SR.
Ann Neurol. 2016 Sep;80(3):326-38. PMID: 27422805

Acute Flaccid Myelitis of Unknown Etiology in California, 2012-2015.
Van Haren K, Ayscue P, Waubant E, Clayton A, Sheriff H, Yagi S, Glenn-Finer R, Padilla T, Strober JB, Aldrovandi G, Wadford DA, Chiu CY, Xia D, Harriman K, Watt JP, Glaser CA.
JAMA. 2015 Dec 22-29;314(24):2663-71. PMID: 26720027

Safety and immunologic effects of high- vs low-dose cholecalciferol in multiple sclerosis.
Sotirchos ES, Bhargava P, Eckstein C, Van Haren K, Baynes M, Ntranos A, Gocke A, Steinman L, Mowry EM, Calabresi PA.
Neurology. 2016 Jan 26;86(4):382-90. PMID: 26718578

Magnetic Resonance Imaging Spectrum of Succinate Dehydrogenase-Related Infantile Leukoencephalopathy
Helman G, Caldovic L, Whitehead MT, Simons C, Brockmann K, Edvardson S, Bai R, Moroni I, Taylor JM, Van Haren K; SDH Study Group, Taft RJ, Vanderver A, van der Knaap MS.
Ann Neurol. 2016 Mar;79(3):379-86. PMID: 26642834

Emerging treatments for pediatric leukodystrophies.
Helman G, Van Haren K, Escolar ML, Vanderver A.
Pediatr Clin North Am. 2015 Jun;62(3):649-66. PMID: 26022168

A novel outbreak enterovirus D68 strain associated with acute flaccid myelitis cases in the USA (2012-14): a retrospective cohort study.
Greninger AL, Naccache SN, Messacar K, Clayton A, Yu G, Somasekar S, Federman S, Stryke D, Anderson C, Yagi S, Messenger S, Wadford D, Xia D, Watt JP, Van Haren K, Dominguez SR, Glaser C, Aldrovandi G, Chiu CY.
Lancet Infect Dis. 2015 Jun;15(6):671-82.  PMID: 25837569

Disease specific therapies in leukodystrophies and leukoencephalopathies.
Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium.
Mol Genet Metab. 2015 Apr;114(4):527-36. PMID: 25684057

Consensus statement on preventive and symptomatic care of leukodystrophy patients.
Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC; GLIA Consortium.
Mol Genet Metab. 2015 Apr;114(4):516-26. PMID: 25577286

De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL.
Hum Mutat. 2015 Jan;36(1):69-78. PMID: 25265257

"What is ALD? Adrenoleukodystrophy explained."
A video tutorial written by Ben Lenail & Keith Van Haren MD and produced by Youreka Science with support from ALD Connect.

Acute flaccid paralysis with anterior myelitis - California, June 2012-June 2014.
Ayscue P, Van Haren K, Sheriff H, Waubant E, Waldron P, Yagi S, Yen C, Clayton A, Padilla T, Pan C, Reichel J, Harriman K, Watt J, Sejvar J, Nix WA, Feikin D, Glaser C; Centers for Disease Control and Prevention (CDC).
MMWR Morb Mortal Wkly Rep. 2014 Oct 10;63(40):903-6. PMID: 25299608

Immune response in leukodystrophies.
Eichler F, Van Haren K.
Pediatr Neurol. 2007 Oct;37(4):235-44.  PMID: 17903666

The unfolded protein response in vanishing white matter disease.
van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC, Powers JM, van der Knaap MS.
J Neuropathol Exp Neurol. 2005 Sep;64(9):770-5. PMID: 16141786

The life and death of oligodendrocytes in vanishing white matter disease.
Van Haren K, van der Voorn JP, Peterson DR, van der Knaap MS, Powers JM.
J Neuropathol Exp Neurol. 2004 Jun;63(6):618-30. PMID: 15217090