NCT05029843

SLSMDS Natural History Study

Single Large-scale mtDNA Deletion Syndrome Natural History Study

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 30 (estimated)
• Sponsor: The Champ Foundation · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

The Single Large-Scale mtDNA Deletion Sydrome: Natural History Study (PS-NHS) aims to collect data on standardized clinical outcomes, store data on the Champ Foundation Registry (CFR) and make this data available to researchers, clinicians, and industry partners who are studying SLSMDS to answer questions regarding the disease, including its causes, potential treatments, and other topics. A secondary aim is to analyze the data to understand research questions relating to the natural history of SLSMDS.

Detailed description

This study is a prospective, observational, and longitudinal study intended to track the course of Pearson syndrome and single large scale mitochondrial DNA deletion syndromes (SLSMDS) to identify demographic, genetic, environmental, and other variables that correlate with the diseases development and outcomes. If available, retrospective clinical data may be accessed and used in analyses as well. The PS-NHS will be conducted at two Center of Excellence sites: the Cleveland Clinic and Children's Hospital of Philadelphia (CHOP). All PS-NHS data will be entered and stored on the CFR. The CFR exists entirely online.

Conditions

• Pearson Syndrome
• Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)

Timeline

• Start date: 2021-03-16
• Primary completion: 2024-10-16
• Completion: 2024-10-16
• First posted: 2021-09-01
• Last updated: 2023-02-08

Locations

2 sites across 1 country: United States