Trial record 7 of 15 for:    "MERRF Syndrome" OR "Mitochondrial Myopathies" OR "myoclonic epilepsy with ragged-red fibers"

Tissue Sample Study for Mitochondrial Disorders

This study is currently recruiting participants.
Verified March 2013 by Columbia University
Sponsor:
Collaborators:
Information provided by (Responsible Party):
Salvatore DiMauro, MD, Columbia University
ClinicalTrials.gov Identifier:
NCT01803906
First received: August 31, 2012
Last updated: March 1, 2013
Last verified: March 2013
  Purpose

The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA). Most patients with suspected or known mitochondrial diseases have no genetic confirmation. The investigators expect that evaluating tissue samples from patients with mitochondrial disorders will lead us to discover mutations in new or known genes causing mitochondrial dysfunction.


Condition
Mitochondrial Disorders
Mitochondrial Disease
Melas
Kearns Sayer
NARP
MNGIE
LHON
Mitochondrial Depletion Syndrome
Leigh's Disease

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Tissue Study for Mitochondrial Disorders

Resource links provided by NLM:


Further study details as provided by Columbia University:

Primary Outcome Measures:
  • Respiratory chain enzyme levels [ Time Frame: Up to 2 years ] [ Designated as safety issue: No ]
    Biochemical studies involving mitochondrial function. The levels will be compared to normal levels.


Secondary Outcome Measures:
  • Number of new genes related to mitochondrial function [ Time Frame: Up to 2 years ] [ Designated as safety issue: No ]

    Consists of:

    The number of new genes related to mitochondrial function, the number of genetic modifiers related to known genes that cause mitochondrial disorders, the degree (0-100%) of genotype/phenotype correlation.



Biospecimen Retention:   Samples With DNA

Any type of tissue could be submitted, however, generally blood, urine, buccal cell (cheek), and muscle are sent.


Estimated Enrollment: 6900
Study Start Date: February 2012
Estimated Study Completion Date: January 2020
Estimated Primary Completion Date: January 2020 (Final data collection date for primary outcome measure)
Groups/Cohorts
Patients with known or possible mitochondrial disorders
One group of patients with known or possible mitochondrial disorders.

Detailed Description:

Presently, the investigators know of about 200 mitochondrial disorders. The investigators know that there are about 1,300 genes responsible for mitochondrial function. Thus, there are a lot of mutated genes to be discovered out there. Currently, most patients with suspected or known mitochondrial disorders do not have genetic confirmation of the disease.

The goal of this project is to perform biochemical and DNA analysis on tissue samples of patients with mitochondrial disorders to find new genes that might be involved in mitochondrial dysfunction.

Leftover patient tissue samples will be obtained for analysis from within the Columbia Presbyterian Medical Center. Left over patient samples may also be sent from outside the institution. This is not a "first-step" in the diagnostic process, but rather an option for evaluation in patient samples for which no known diagnosis or genetic confirmation has been made.

The research laboratory does not guarantee that a sample will be analyzed. Sample analysis is performed according to research interest. If they choose, patients can be contacted should laboratory findings provide insight into their disease.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Patients of all ages, race, gender with known or suspected mitochondrial disorders and their carrier relatives (if requested).

Criteria

Inclusion Criteria:

  • Patients suspected of having a mitochondrial disorder
  • Patients who may carry a genetic mutation or be related to someone with a genetic mutation which may cause a mitochondrial disorder

Exclusion Criteria:

  • Patients who are not suspected of having a mitochondrial disorder
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01803906

Contacts
Contact: Kris Engelstad, MS CGC 2123056834 ke4@columbia.edu
Contact: Pablo Abreu, BS 2123052010 pab2120@columbia.edu

Locations
United States, New York
Columbia University Recruiting
New York City, New York, United States, 10032
Contact: Salvatore DiMauro, MD    212-305-1662    sd12@columbia.edu   
Contact: Kris Engelstad, MS CGC    212-305-6834    ke4@columbia.edu   
Principal Investigator: Salvator DiMauro, PhD         
Sponsors and Collaborators
Columbia University
Investigators
Principal Investigator: Salvatore DiMauro, MD Columbia University
  More Information

Additional Information:
No publications provided

Responsible Party: Salvatore DiMauro, MD, Lucy G. Moses Professor of Neurology, Columbia University
ClinicalTrials.gov Identifier: NCT01803906     History of Changes
Other Study ID Numbers: AAAB5754, P01HD032062
Study First Received: August 31, 2012
Last Updated: March 1, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Columbia University:
mitochondrial disorder
mitochondria
oxidative phosphorylation
oxidative phosphorylation disorders
respiratory chain disorders
mitochondrial disease
melas
kearns sayer
NARP
MNGIE
LHON
Mitochondrial depletion syndrome
Leigh's disease

Additional relevant MeSH terms:
Mitochondrial Myopathies
Leigh Disease
MELAS Syndrome
Mitochondrial Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Pyruvate Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases
Mitochondrial Encephalomyopathies
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases

ClinicalTrials.gov processed this record on April 14, 2014