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Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

NCT03426059 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 24

Last updated 2025-02-18

No results posted yet for this study

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.

Conditions

Interventions

OTHER

No Intervention

No Intervention. This is an observational study.

Sponsors & Collaborators

Principal Investigators

  • Alexander Kolevzon, MD · Seaver Autism Center, Mount Sinai School of Medicine

Eligibility

Min Age
22 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-05-22
Primary Completion
2019-12-31
Completion
2020-12-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03426059 on ClinicalTrials.gov