NCT02843555

Natural History of the Leukodystrophies

The Etiology, Pathogenesis, and Natural History of the Leukodystrophies

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 10 (actual)
• Sponsor: Baylor Research Institute · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to: 1. define novel homogeneous groups of patients with LDs and 2. work toward finding the cause of these disorders.

Detailed description

Patients with leukodystrophies (LDs) of unknown etiology are a heterogeneous group but constitute the second largest group of genetic white matter diseases. In order to find the cause of leukodystrophies, patients with LDs of unknown cause will be analyzed clinically, neurophysiologically, biochemically and genetically. Patients would have been diagnosed as having no known leukodystrophies at outside centers. At the Baylor University Medical Center, such patients will undergo a series of neuropsychological, blood, urine, spinal fluid, radiological, and peripheral tissue pathological tests. Some of these tests will be part of a standard battery while others will be tailored to individual patients. Patients will be followed yearly or as necessary. Patients will be screened for mutations in genes coding for structural myelin proteins. In some patients in whom all tests yielded no information regarding the etiology of their disease, and in whom there is evidence to suggest involvement of the peripheral nervous system, a sural nerve biopsy will be considered. Sural nerve biopsy tissue will be evaluated using a novel combination of approaches including detailed pathological, immunohistochemical, and biochemical analysis of myelin proteins and lipids. Schwann cell biology and expression of myelin genes in the brain will also be investigated in situ. It is hoped that the present study will help clarify the nosology of the leukodystrophies and significantly advance our understanding of the pathogenesis of these diseases.

Conditions

• Leukodystrophies

Timeline

• Start date: 2019-01-23
• Primary completion: 2019-01-23
• Completion: 2019-01-23
• First posted: 2016-07-26
• Last updated: 2019-03-22

Locations

1 site across 1 country: United States