NCT02000167

Brief 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).

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
51

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started May 2012

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 1, 2012

Completed
1.6 years until next milestone

First Submitted

Initial submission to the registry

November 25, 2013

Completed
8 days until next milestone

First Posted

Study publicly available on registry

December 3, 2013

Completed
1.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 1, 2015

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2015

Completed
Last Updated

August 5, 2021

Status Verified

June 1, 2015

Enrollment Period

3 years

First QC Date

November 25, 2013

Last Update Submit

August 4, 2021

Conditions

Phelan-McDermid Syndrome

Keywords

Electron Transport ChainMitochondrial DiseaseChromosomal Deletion

Outcome Measures

Primary Outcomes (1)

  • Electron Transport Chain function derived from buccal cells of known PMS patients

    Electron transport chain (ETC) function will be measured in cells collected using Buccal swabs to determine if certain PMS patients symptomatology and clinical characteristics/variations can be explained due to variations in patterns of ETC function in this cohort

    Up to two years

Study Arms (2)

Phelan-McDermid Syndrome only

Diagnosed with Phelan-McDermid Syndrome; 50 subjects to be recruited. 1-21 years of age

Co-morbid Phelan-McDermid Syndrome & Mitochodrial Disorder

1-21 years of age; Diagnosed with Phelan-McDermid Syndrome AND diagnosed with Mitochondrial Disorder; 50 subjects to be recruited.

Eligibility Criteria

Age1 Year - 21 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Patients will be identified through the registry for this specific aim. PMS patients in the registry will be offered to be entered the study.

You may qualify if:

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

You may not qualify if:

  • none

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Arkansas Children's Hospital Research Institute

Little Rock, Arkansas, 72205, United States

Location

MeSH Terms

Conditions

Telomeric 22q13 Monosomy SyndromeMitochondrial DiseasesChromosome Deletion

Condition Hierarchy (Ancestors)

Metabolic DiseasesNutritional and Metabolic DiseasesMonosomyAneuploidyChromosome AberrationsPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Richard E Frye, M.D./Ph.D.

    University of Arkansas for Medical Sciences; Arkansas Children's Hospital Research Institute

    PRINCIPAL INVESTIGATOR

  • Michael J Goldenthal, Ph.D.

    Drexel University College of Medicine

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 25, 2013

First Posted

December 3, 2013

Study Start

May 1, 2012

Primary Completion

May 1, 2015

Study Completion

May 1, 2015

Last Updated

August 5, 2021

Record last verified: 2015-06

Locations

US(1)