CompletedNot Applicable

Mitochondrial Dysfunction in Phelan-McDermid Syndrome

United States51 participantsStarted 2012-05

Plain-language summary

The purpose of this study is to determine whether a relationship exists between gene deletion(s) specific to the mitochondrial electron transport chain and presentation of clinical characteristics in patients with Phelan-McDermid Syndrome (PMS).

Who can participate

Age range1 Year – 21 Years

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: * 1-21 years of age * Diagnosed with Phelan-McDermid Syndrome AND diagnosed with Mitochondrial Disorder * Diagnosed with Phelan-McDermid Syndrome Exclusion Criteria: * none

What they're measuring

Electron Transport Chain function derived from buccal cells of known PMS patients

Timeframe: Up to two years

Trial details

NCT IDNCT02000167

SponsorUniversity of Arkansas

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2015-05

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