NCT03047369 (MDBP) is a clinical trial in Leukodystrophy, sponsored by Children's Hospital of Philadelphia.

Who is sponsoring NCT03047369?

NCT03047369 is sponsored by Children's Hospital of Philadelphia.

What condition does NCT03047369 study?

NCT03047369 studies Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD Gene Mutation, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication &#X7C; Blood or Tissue &#X7C; Mutations, Pelizaeus Merzbacher Like Disease, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome.

Is NCT03047369 still recruiting?

NCT03047369 is currently recruiting now. Last updated 23 October 2025.

Last reviewed 2025-10-23 · How we verify

NCT03047369: MDBP

Name: Drug Landscape Pharmaceutical Database
Creator: Drug Landscape
Published: 2026-01-01
License: https://creativecommons.org/licenses/by/4.0/

The Myelin Disorders Biorepository Project

Recruiting now Last updated 23 October 2025

What this trial tests

trial in Leukodystrophy in 12,000 participants. Currently enrolling.

Timeline

8 December 2016

Primary endpoint
8 December 2030

8 December 2030

Quick facts

Lead sponsor	Children's Hospital of Philadelphia
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	12,000
Start date	8 December 2016
Primary completion	8 December 2030
Estimated completion	8 December 2030
Sites	23 locations across United States

Conditions studied

Leukodystrophy — all drugs for Leukodystrophy →
White Matter Disease — all drugs for White Matter Disease →
Leukoencephalopathies — all drugs for Leukoencephalopathies →
4H Syndrome — all drugs for 4H Syndrome →

Sponsor

Children's Hospital of Philadelphia

Who can join

Eligibility, any sex, with Leukodystrophy or White Matter Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.
Vanderver A, Adang L, Gavazzi F, McDonald K, et al · · 2020 · cited 148× · PMID 32877590 · DOI 10.1056/nejmc2001362
Development of a neurologic severity scale for Aicardi Goutières Syndrome.
Adang LA, Gavazzi F, Jawad AF, Cusack SV, et al · · 2020 · cited 35× · PMID 32279991 · DOI 10.1016/j.ymgme.2020.03.008
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA, Schlotawa L, Groeschel S, Kehrer C, et al · · 2020 · cited 31× · PMID 32749716 · DOI 10.1002/jimd.12298
Dysregulation of the cGAS-STING Pathway in Monogenic Autoinflammation and Lupus.
Wobma H, Shin DS, Chou J, Dedeoğlu F. · · 2022 · cited 26× · PMID 35693769 · DOI 10.3389/fimmu.2022.905109
Pelizaeus-Merzbacher disease: on the cusp of myelin medicine.
Elitt MS, Tesar PJ. · · 2024 · cited 10× · PMID 38582621 · DOI 10.1016/j.molmed.2024.03.005
Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang LA, Mowafy S, Herbst ZM, Zhou Z, et al · · 2024 · cited 7× · PMID 37870986 · DOI 10.1002/jimd.12688
Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.
Gavazzi F, Yu E, Tashnim Z, Woidill S, et al · · 2025 · PMID 40368343 · DOI 10.1177/08830738251339848
Sterile activation of RNA-sensing pathways in autoimmunity.
Li J, Zhu J, Yang H, Hou F. · · 2024 · PMID 39143032 · DOI 10.1093/jmcb/mjae029

Verify or expand the search:

Other recruiting trials for Leukodystrophy

Currently open trials in the same condition.

NCT05443906 — Home Exercise for Individuals with Neurodegenerative Disease · NA · recruiting
NCT03639285 — Natural History, Diagnosis, and Outcomes for Leukodystrophies · recruiting

Other Children's Hospital of Philadelphia trials

Trials by the same sponsor.

NCT07023380 — EoE Food Test Pilot Study · NA · not yet recruiting
NCT06693752 — CEUS Evaluation of Hydrocephalus in Neonates and Infants · Phase 2 · recruiting
NCT07425691 — SPACE for Youth With Chronic Pain · recruiting
NCT07444528 — Upper Airway Ultrasound to Predict Difficult Laryngoscopy in Neonates and Infants · enrolling by invitation
NCT07321327 — Implementation Strategies for Caregiver and Teacher Use of Behavioral Interventions: Aim 2 · NA · enrolling by invitation

Verify against primary sources

ClinicalTrials.gov — authoritative US registry record
WHO ICTRP — international registry index
EU Clinical Trials Register
Sponsor press releases (Google)

Data sources for this page

Trial protocol + status: ClinicalTrials.gov NCT03047369 (US National Library of Medicine, public domain)
Publications: Europe PMC API search by NCT ID, retrieved 9 June 2026
Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
Sponsor: as reported to ClinicalTrials.gov by Children's Hospital of Philadelphia
Last refreshed: 23 October 2025

Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT03047369.

Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing