The International Registry for Leigh Syndrome

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.

Study Overview

• Status: Recruiting
• Conditions: Leigh Disease; Leigh Syndrome; Leigh's Necrotizing Encephalopathy; Subacute Necrotizing Encephalomyopathy; Subacute Necrotizing Encephalomyelopathy

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.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Mary Kay Koenig, MD; Phone Number: 713-500-7164; Email: leigh@uth.tmc.edu
• Study Contact Backup: Name: William Guerra; Phone Number: 713-500-7164; Email: leigh@uth.tmc.edu

Study Locations

• United States
  • Texas
    • Houston, Texas, United States, 77030
      • Recruiting
      • The University of Texas Health Science Center at Houston
      • Contact: William Guerra; Phone Number: 713-500-7164; Email: leigh@uth.tmc.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 100 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

People with a diagnosis of Leigh syndrome.

Description

Inclusion Criteria:

• All participants with a diagnosis of Leigh syndrome will be invited to participate

Exclusion Criteria:

• People without Leigh syndrome

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Other

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Leigh syndrome; All people diagnosed with Leigh syndrome.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Phenotypical characteristics of Leigh syndrome	The goal of this project is to collect longitudinal data on the natural history of Leigh syndrome.	10 years

Collaborators and Investigators

• Sponsor: The University of Texas Health Science Center, Houston
• Investigators: Principal Investigator: Mary Kay Koenig, MD, The University of Texas Health Science Center, Houston

Publications and helpful links

Helpful Links

• Related Info

Study record dates

Study Major Dates

• Study Start (Actual): June 17, 2015
• Primary Completion (Estimated): June 17, 2030
• Study Completion (Estimated): June 17, 2030

Study Registration Dates

• First Submitted: April 28, 2017
• First Submitted That Met QC Criteria: April 28, 2017
• First Posted (Actual): May 2, 2017

Study Record Updates

• Last Update Posted (Estimated): December 1, 2023
• Last Update Submitted That Met QC Criteria: November 30, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: Leigh Syndrome; Leigh Disease; Leigh's Necrotizing Encephalopathy; Subacute Necrotizing Encephalomyelopathy; Subacute Necrotizing Encephalomyopathy
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Central Nervous System Diseases; Nervous System Diseases; Disease; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Mitochondrial Diseases; Brain Diseases, Metabolic, Inborn; Mitochondrial Myopathies; Pyruvate Metabolism, Inborn Errors; Syndrome; Brain Diseases; Mitochondrial Encephalomyopathies; Leigh Disease
• Other Study ID Numbers: HSC-MS-14-0907

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No