UnknownNot Applicable

SLSMDS Natural History Study

United States30 participantsStarted 2021-03-16

Plain-language 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.

Who can participate

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Have an active account on the Champ Foundation Registry (CFR) or be willing to create an account on the CFR. * Must have a genetic diagnosis of a single large-scale mitochondrial DNA deletion and must upload their genetic report to the CFR. * Have a clinical diagnosis or history of Pearson syndrome OR have symptom onset prior to five years of age and a genetic diagnosis of a single large-scale mitochondrial DNA deletion OR in the opinion of the principal investigator the participant is suitable for participating in this study based on clinical presentation. Participants may be of any age or gender, and originate from any country.

What they're measuring

Columbia Neurological Scale

Timeframe: 2 years

PEDI-CAT assessment

Timeframe: 2 years

International Pediatric Mitochondrial Disease Scale

Timeframe: 2 years

Scale for Assessment and Rating of Ataxia

Timeframe: 2 years

Balance test

Timeframe: 2 years

Coordination test

Timeframe: 2 years

2 or 6 minute walk test

Timeframe: 2 years

Strength test

Timeframe: 2 years

Hearing testing

Timeframe: 2 years

Trial details

NCT IDNCT05029843

SponsorThe Champ Foundation

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2024-10-16

Contact for this trial

Elizabeth Reynolds, PhD

727-612-4606 elizabeth.reynolds@thechampfoundation.org

View on ClinicalTrials.gov More Pearson Syndrome trials

Plain-language summary

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Columbia Neurological Scale

Timeframe: 2 years

PEDI-CAT assessment

Timeframe: 2 years

International Pediatric Mitochondrial Disease Scale

Timeframe: 2 years

Scale for Assessment and Rating of Ataxia

Timeframe: 2 years

Balance test

Timeframe: 2 years

Coordination test

Timeframe: 2 years

2 or 6 minute walk test

Timeframe: 2 years

Strength test

Timeframe: 2 years

Hearing testing

Timeframe: 2 years