Tissue Sample Study for Mitochondrial Disorders | NCT01803906

Studies
Tissue Sample Study for Mitochondrial Disorders

NCT01803906

Sponsor

Columbia University

Status

Enrolling by invitation

Last Update Posted

Jan 7, 2026Actual

Enrollment

6,900Estimated

Phase

Not provided

Conditions

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

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
P01HD032062	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Jan 2026

Overall Recruitment Status or Expanded Access Status

Enrolling by invitation

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 2012Actual

Primary Completion Date

Dec 2026Estimated

Completion Date

Dec 2026Estimated

First Submitted Date

Aug 31, 2012

First Submission Date that Met QC Criteria

Mar 1, 2013

First Posted Date

Mar 4, 2013Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 6, 2026

Last Update Posted Date

Jan 7, 2026Actual

Name	Class
National Institutes of Health (NIH)	NIH
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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.

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.

Conditions Module

Conditions

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

Keywords

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

6,900Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Mitochondrial disease		Patients with known or suspected DNA mutations that affect mitochondrial function. Patients with suspected mitochondrial disorders

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Number of patients with reduced respiratory chain enzyme levels	Biochemical studies involving mitochondrial function. The levels will be compared to normal levels.	Up to 2 years

Secondary Outcomes

Measure	Description	Time Frame
Number of new genetic mutations	Evaluation of potential genetic interaction in clinical signs and symptoms.	Up to 2 years

Other Outcomes

Not provided

Eligibility Module

Eligibility 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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Michio Hirano, MD	Columbia University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Columbia University		New York	New York	10032	United States

Label	URL
Link to general laboratory information	View source

IPD Sharing Statement Module

Plan to Share IPD

Yes

Description

When applicable we will submit manuscript (s) describing the findings

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D028361	Mitochondrial Diseases
D017241	MELAS Syndrome
D007888	Leigh Disease

Ancestor Terms

ID	Term
D008659	Metabolic Diseases
D009750	Nutritional and Metabolic Diseases
D017237	Mitochondrial Encephalomyopathies
D017240	Mitochondrial Myopathies

Browse Leaves

Not provided

Browse Branches

Not provided