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Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

NCT02461420 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 205

Last updated 2025-02-17

No results posted yet for this study

Summary

The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.

Conditions

Sponsors & Collaborators

  • National Institute of Neurological Disorders and Stroke (NINDS)

    collaborator NIH

  • National Institutes of Health (NIH)

    collaborator NIH

  • Office of Rare Diseases (ORD)

    collaborator NIH

  • National Center for Advancing Translational Sciences (NCATS)

    collaborator NIH

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    collaborator NIH

  • Phelan-McDermid Syndrome Foundation

    collaborator OTHER

  • Boston Children's Hospital

    lead OTHER

Principal Investigators

  • Alexander Kolevzon, MD · Icahn School of Medicine at Mount Sinai

Eligibility

Min Age
18 Months
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-05-31
Primary Completion
2025-12-31
Completion
2026-12-31

Countries

  • United States

Study Locations

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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 NCT02461420 on ClinicalTrials.gov