Mitochondrial Dysfunction in Phelan-McDermid Syndrome

Completed

Conditions studied: Phelan-McDermid Syndrome

In brief

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).

Key facts

Study ID

NCT02000167

Run by

University of Arkansas

People needed

51

Starts

2012-05-01

Expected to finish

2015-05-01

Last updated by the study team

2021-08-05

Who can join

Age: 1 and older, up to 21. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 1-21 years of age
• Diagnosed with Phelan-McDermid Syndrome AND diagnosed with Mitochondrial Disorder
• Diagnosed with Phelan-McDermid Syndrome

You may not qualify if…

• none

Where it is running

• Arkansas Children's Hospital Research Institute — Little Rock, Arkansas, United States

Full record on ClinicalTrials.gov

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