# The Myelin Disorders Biorepository Project

> **NCT03047369** · — · RECRUITING · sponsor: **Children's Hospital of Philadelphia** · enrollment: 12000 (estimated)

## Conditions studied

- 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 | Blood or Tissue | 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

## Interventions

_None listed._

## Key facts

- **NCT ID:** NCT03047369
- **Lead sponsor:** Children's Hospital of Philadelphia
- **Sponsor class:** OTHER
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** RECRUITING
- **Start date:** 2016-12-08
- **Primary completion:** 2030-12-08
- **Final completion:** 2030-12-08
- **Target enrollment:** 12000 (ESTIMATED)
- **Last updated:** 2025-10-23

## Collaborators

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## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT03047369

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT03047369, "The Myelin Disorders Biorepository Project". Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/clinical/NCT03047369. Licensed CC0.

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*[Clinical trials dataset](/datasets/clinical-trials) · CC0 1.0*