CompletedNot Applicable

Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

United States24 participantsStarted 2018-05-22

Plain-language summary

The protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.

Who can participate

Age range22 Years

SexALL

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Inclusion Criteria: * Participant is 22 years of age and older at the time of enrollment * Participant has been diagnosed with pathogenic deletions or mutations of the SHANK3 gene * Participant is proficient in English * Participant provided consent Exclusion Criteria: * None

What they're measuring

Global cognitive ability

Timeframe: Baseline

Measure of Adaptive Behavior

Timeframe: Baseline

Measure of Overall Language Abilities

Timeframe: Baseline

Measure of Overall Motor Functioning

Timeframe: Baseline

Measure of autism symptoms

Timeframe: Baseline

Trial details

NCT IDNCT03426059

SponsorBoston Children's Hospital

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2019-12-31

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