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

ArmDescriptionAssigned Intervention
Leigh syndrome All people diagnosed with Leigh syndrome.

Recruiting Locations

The University of Texas Health Science Center at Houston
Houston, Texas 77030
Contact:
William Guerra
713-500-7164
leigh@uth.tmc.edu

More Details

Status
Recruiting
Sponsor
The University of Texas Health Science Center, Houston

Study Contact

Mary Kay Koenig, MD
713-500-7164
leigh@uth.tmc.edu

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.