The International Registry for Leigh Syndrome
Purpose
The purpose of this study is to develop a database containing clinical and laboratory information for patients with Leigh syndrome. The goal is to provide a greater understanding of Leigh syndrome allowing further characterization of this disease.
Conditions
- Leigh Syndrome
- Leigh Disease
- Leigh's Necrotizing Encephalopathy
- Subacute Necrotizing Encephalomyopathy
- Subacute Necrotizing Encephalomyelopathy
Eligibility
- Eligible Ages
- Between 0 Days and 100 Years
- Eligible Genders
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- All participants with a diagnosis of Leigh syndrome will be invited to participate
Exclusion Criteria
- People without Leigh syndrome
Study Design
- Phase
- Study Type
- Observational [Patient Registry]
- Observational Model
- Case-Only
- Time Perspective
- Other
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Leigh syndrome | All people diagnosed with Leigh syndrome. |
Recruiting Locations
Houston, Texas 77030
More Details
- Status
- Recruiting
- Sponsor
- The University of Texas Health Science Center, Houston
Detailed Description
Leigh syndrome, also known as juvenile sub-acute necrotizing encephalopathy, is a progressive neurodegenerative disorder associated with dysfunction of mitochondrial oxidative phosphorylation (OXPHOS). First described in 1951 by British neuropsychiatrist Archibald Denis Leigh, the condition has evolved from a post mortem diagnosis to a clinical entity with characteristic radiologic and laboratory findings. Leigh syndrome is a rare and heterogeneous disease, finding a substantial number of patients to study is difficult. The lack of natural history data in Leigh syndrome and the small number of patients included in clinical reports thus far has limited the ability to fully comprehend the progression of this disease and assess prognostic factors. A Leigh syndrome database will help improve our understanding of this rare disease leading to an improved ability to predict outcomes and/or improve treatment paradigms. Collecting natural history data on Leigh syndrome and integrating this information into a database will be useful in understanding the course of the disease and identifying trends.