The Myelin Disorders Biorepository Project

RECRUITING

Status

12000

Enrollment

OTHER

Sponsor class

Conditions

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

Children's Hospital of Philadelphia