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Mitochondrial Dysfunction in Phelan-McDermid Syndrome

NCT02000167 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 51

Last updated 2021-08-05

No results posted yet for this study

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).

Conditions

  • Phelan-McDermid Syndrome

Sponsors & Collaborators

  • St. Christopher's Hospital for Children

    collaborator OTHER

  • University of Arkansas

    lead OTHER

Principal Investigators

  • Richard E Frye, M.D./Ph.D. · University of Arkansas for Medical Sciences; Arkansas Children's Hospital Research Institute

  • Michael J Goldenthal, Ph.D. · Drexel University College of Medicine

Eligibility

Min Age
1 Year
Max Age
21 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-05-31
Primary Completion
2015-05-31
Completion
2015-05-31

Countries

  • United States

Study Locations

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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 NCT02000167 on ClinicalTrials.gov