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

Sex

ALL

See this in plain English?

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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

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

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

Sex

ALL

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