Clinical Trial: The Myelin Disorders Biorepository Project

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]



Official Title: New Diagnostic Approaches in Leukodystrophy: The Myelin Disorders Biorepository and Natural History Project

Brief Summary:

This is an observational designed 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.

These objectives will be achieved by collecting, and subsequently analyzing, data and samples in a longitudinal fashion across leukodystrophies.