Mitochondrial DisordersNCT01803906
Tissue Sample Study for Mitochondrial Disorders
An observational study of Mitochondrial Disorders and Mitochondrial Disease, run by Columbia University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Mitochondrial Disorders, Mitochondrial Disease, Melas
- How many people
- 6,900 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2012to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients of all ages, race, gender with known or suspected mitochondrial disorders and their carrier relatives (if requested).
Who may be able to join
- 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
Who cannot join
- Patients who are not suspected of having a mitochondrial disorder
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Tissue Study for Mitochondrial Disorders
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.
Read the 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
- Mitochondrial Disorders, Mitochondrial Disease, Melas, Kearns Sayer, NARP, MNGIE
- 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
- Medical subject headings
- Mitochondrial Diseases, MELAS Syndrome, Leigh Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Mitochondrial disease | Patients with known or suspected DNA mutations that affect mitochondrial function. Patients with suspected mitochondrial disorders |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients with reduced respiratory chain enzyme levels
Biochemical studies involving mitochondrial function. The levels will be compared to normal levels.
Measured: Up to 2 years
Secondary outcomes (1)
Number of new genetic mutations
Evaluation of potential genetic interaction in clinical signs and symptoms.
Measured: Up to 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Mar 2013 (estimated)
- Study startFeb 2012
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial DisordersStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 6,900 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Responsible party
- Sponsor
- Investigators
- Michio Hirano, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01803906
- Sponsor's protocol ID
- AAAB5754
- Other IDs
- P01HD032062
- Status last verified
- Jan 2026
- First submitted
- 31 Aug 2012
- Last updated
- 7 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: When applicable we will submit manuscript (s) describing the findings
Study at a glance
From the registry record, last updated by the sponsor on 7 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Tissue Study for Mitochondrial Disorders
- ClinicalTrials.gov ID
- NCT01803906
- Acronym / sponsor ID
- AAAB5754
- Conditions
- Mitochondrial Disorders, Mitochondrial Disease, Melas, Kearns Sayer, NARP, MNGIE
- Keywords
- mitochondrial disorder, mitochondria, oxidative phosphorylation, oxidative phosphorylation disorders, respiratory chain disorders, mitochondrial disease, melas, kearns sayer
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 6,900 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study start
- Feb 2012 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 4 Mar 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Mitochondrial disease | – | –Patients with known or suspected DNA mutations that affect mitochondrial function. Patients with suspected mitochondrial disorders |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients of all ages, race, gender with known or suspected mitochondrial disorders and their carrier relatives (if requested).
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (1 listed)
- Patients who are not suspected of having a mitochondrial disorder
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of patients with reduced respiratory chain enzyme levels
Time frame: Up to 2 years
Biochemical studies involving mitochondrial function. The levels will be compared to normal levels.
1 secondary outcome
Number of new genetic mutations
Time frame: Up to 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Jan 2026.
- Link to general laboratory informationLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. When applicable we will submit manuscript (s) describing the findings
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Michio Hirano, MD principal investigator
Columbia University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mitochondrial Disorders and Mitochondrial Disease, run by Columbia University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 7 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of patients with reduced respiratory chain enzyme levels (time frame: Up to 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Jan 2026.