The Myelin Disorders Biorepository Project — MDBP  

Adrenoleukodystrophy Clinical Trial

Official title: The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network

Status Recruiting

Clinical Trial Summary

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.

Clinical Trial Description

Genetic white matter disorders (leukodystrophies) are estimated to have an incidence of approximately 1:7000 live births. In the past, patients with white matter disease of unknown cause evaluated by the investigator achieved a diagnosis in fewer than 46% of cases after extensive conventional clinical testing. Even when a diagnosis is achieved, the diagnosis takes an average of eight years and this "odyssey" results in testing charges to patients and insurers in excess of $8,000 on average per patient, including patients who never achieve a diagnosis at all. With next generation approaches such as whole exome sequencing, the diagnostic efficacy is closer to 70%, but approximately a third of individuals do not achieve a specific etiologic diagnosis. These diagnostic challenges represent an urgent and unresolved gap in knowledge and disease characterization, as obtaining a definitive diagnosis is of paramount importance for leukodystrophy patients.

Moreover, the mechanisms of disease in many leukodystrophies of known cause are very poorly understood, with little known about the best symptomatic management and, thus, limited standards of care are available for the management of these patients.

The purpose of this study is to: (Aim 1) Define novel homogeneous groups of patients with unclassified leukodystrophy and work toward finding the cause of these disorders; (Aim 2) assess the validity and utility of next-generation sequencing in the diagnosis of leukodystrophies; (Aim 3) establish disease mechanisms in selected known leukodystrophies; (Aim 4) track current care and natural history of these patients to define the longitudinal course and determinants of outcomes in these disorders; (Aim 5) contact subjects for future research studies and/or clinical programs.

This biorepository will use available basic science and clinical research approaches to establish novel diagnoses, biomarkers, and outcome measures for future clinical diagnostic and therapeutic approaches. ;

Related Conditions & MeSH terms

• Adrenoleukodystrophy
• Adrenomyeloneuropathy
• Aicardi Goutieres Syndrome
• ALD
• ALD (Adrenoleukodystrophy)
• Alexander Disease
• Allan-Herndon-Dudley Syndrome
• ALSP
• AMN
• Cadasil
• Canavan Disease
• Charcot-Marie-Tooth
• Charcot-Marie-Tooth Disease
• CMT
• Cockayne Syndrome
• CTX
• Gangliosidoses
• Gangliosidoses, GM2
• GM2 Gangliosidosis
• Hereditary Sensory and Motor Neuropathy
• Intellectual Disability
• Krabbe Disease
• LBSL
• Leukodystrophy
• Leukodystrophy, Globoid Cell
• Leukodystrophy, Metachromatic
• Leukoencephalopathies
• Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation
• Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
• Metachromatic Leukodystrophy
• MLD
• Mucopolysaccharidoses
• Multiple Sulfatase Deficiency Disease
• Nerve Compression Syndromes
• Pelizaeus-Merzbacher Disease
• Peroxisomal Disorders
• PMD
• Refsum Disease
• Sjogren's Syndrome
• Sjogren-Larsson Syndrome
• Syndrome
• Tay-Sachs Disease
• Vanishing White Matter Disease
• White Matter Disease
• X-ALD
• X-linked Adrenoleukodystrophy
• Xanthomatosis, Cerebrotendinous
• Zellweger Syndrome

• NCT number: NCT03047369
• Study type: Observational [Patient Registry]
• Source: Children's Hospital of Philadelphia
• Contact: Omar S. Sherbini, MPH
• Phone: 215-590-3068
• Email: sherbinio@chop.edu
• Status: Recruiting
• Start date: December 8, 2016
• Completion date: December 8, 2030