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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register.

Register:	ClinicalTrials.gov
Last refreshed on:	17 April 2023
Main ID:	NCT01532791
Date of registration:	10/02/2012
Prospective Registration:	No
Primary sponsor:	Columbia University
Public title:	Natural History Study - Mitochondrial Disease
Scientific title:	Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations
Date of first enrolment:	July 2004
Target sample size:	300
Recruitment status:	Recruiting
URL:	https://clinicaltrials.gov/show/NCT01532791
Study type:	Observational
Study design:
Phase:

Countries of recruitment
United States

Contacts

Name:	Darryl De Vivo, MD
Address:
Telephone:
Email:
Affiliation:	dcd1@columbia.edu

Name:	Kris Engelstad, MS
Address:
Telephone:	212-305-6834
Email:	ke4@cumc.columbia.edu
Affiliation:

Name:	Kris Engelstad, MS
Address:
Telephone:	2123056834
Email:	ke4@cumc.columbia.edu
Affiliation:

Key inclusion & exclusion criteria

Inclusion Criteria:

Known carrier of a the m.3243 A>G mitochondrial mutation, ,or Maternally related to someone
who carries the m.3243A>G mitochondrial mutation.

A family member who is not maternally related to someone who carries the m.3243A>G
mitochondrial mutation

Exclusion Criteria:

- Younger than 4 years of age

- No confirmed m.3243 A>G mitochondrial DNA mutation in the family.

Age minimum: 4 Years
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier

Intervention(s)

Primary Outcome(s)

MRI/MRS [Time Frame: 2-3 years]

Secondary Outcome(s)

Biomarkers [Time Frame: 2-3 years]

Clinical symptoms [Time Frame: 2-3 years]

Cognitive function [Time Frame: 2-3 years]

Motor skills [Time Frame: 2-3 years]

Mutation load [Time Frame: 2-3 years]

Secondary ID(s)

AAAB1425

5P01HD032062

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

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

Ethics review

Results

Results available:
Date Posted:
Date Completed:
URL:

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