Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)NAHIMNCT01694953
The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
An observational study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE), run by Columbia University at 1 site in United States.
Trial summary
This is a multi-center natural history study of Mitochondrial NeurogastroIntestinal Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The investigators hope to learn more about the disease of MNGIE as well as develop useful measures of disease status for use in future clinical… Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2013to 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 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Male or female, At least 5 years of age, with Thymidine Phosphorylase defect
Who may be able to join
- Thymidine Phosphorylase (TP) defect:
- homozygous or
- compound heterozygous mutations in the TYMP gene, and/or
- TP enzyme activity of <20% of normal.
- Increased plasma Thd > 3 micromole/L
- Increased plasma dUrd > 7.5 micromole/L
- Age requirement of at least 5 years of age.
Who cannot join
- Participation in an interventional (study medication or other experimental intervention) study (within 1 month of participation in this study).
- Unable to travel to site for research visits.
- Unwillingness to sign informed consent form.
- Substance abuser
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Columbia University
New York, New York, 10032
Kris Engelstad, MS, 212-305-6834, ke4@columbia.edu
Michio Hirano, MD
About this study
Official title: The Rare Disease Clinical Research Network Natural History Study of MNGIE
This is a multi-center natural history study of Mitochondrial NeurogastroIntestinal Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The investigators hope to learn more about the disease of MNGIE as well as develop useful measures of disease status for use in future clinical trials.
Additional clinical centers will be listed as they become available.
Read the detailed description
The investigators will examine a total of 20 patients at six month intervals for up to five years. The investigators will evaluate gastrointestinal function, lean body mass, neuropathy, neuropsychological capability, quality of life, nutrition, motor function and biochemical parameters.
- Keywords
- MNGIE, Mitochondrial, Mitochondrial Neurogastrointestinal encephalopathy
- Medical subject headings
- Visceral myopathy familial external ophthalmoplegia
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 |
|---|---|---|
| Patients with MNGIE | Patients of all races of any gender who are at least 5 years of age with a defect in thymidine phosphorylase may participate in this natural history study. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Timed Water Swallow
The timed water swallow test evaluates the time it takes to swallow a small cup of water
Measured: 5 years
Secondary outcomes (1)
Degree of Neuropathy
A general neurological exam will be performed to assess the degree of neuropathy.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Sep 2012 (estimated)
- Study startFeb 2013
- 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.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)Studies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Michio Hirano, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01694953
- Sponsor's protocol ID
- AAAI5453
- Other IDs
- 1U54NS078059
- Acronym
- NAHIM
- Status last verified
- Apr 2025
- First submitted
- 25 Sep 2012
- Last updated
- 17 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: When applicable manuscript(s) will be submitted.
Publications
Marti R, Lopez LC, Hirano M. Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol. 2012;837:121-33. doi: 10.1007/978-1-61779-504-6_8.
PubMed 22215544
Study at a glance
From the registry record, last updated by the sponsor on 17 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Rare Disease Clinical Research Network Natural History Study of MNGIE
- ClinicalTrials.gov ID
- NCT01694953
- Acronym / sponsor ID
- NAHIM / AAAI5453
- Keywords
- MNGIE, Mitochondrial, Mitochondrial Neurogastrointestinal encephalopathy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- Feb 2013 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 27 Sep 2012 (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.
This is a multi-center natural history study of Mitochondrial NeurogastroIntestinal Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The investigators hope to learn more about the disease of MNGIE as well as develop useful measures of disease status for use in future clinical trials.
Additional clinical centers will be listed as they become available.
Detailed description
The investigators will examine a total of 20 patients at six month intervals for up to five years. The investigators will evaluate gastrointestinal function, lean body mass, neuropathy, neuropsychological capability, quality of life, nutrition, motor function and biochemical parameters.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with MNGIE | – | –Patients of all races of any gender who are at least 5 years of age with a defect in thymidine phosphorylase may participate in this natural history study. |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Male or female, At least 5 years of age, with Thymidine Phosphorylase defect
Key inclusion criteria (7 listed)
- Thymidine Phosphorylase (TP) defect:
- Increased plasma Thd > 3 micromole/L
- Increased plasma dUrd > 7.5 micromole/L
- Age requirement of at least 5 years of age.
Key exclusion criteria (4 listed)
- Participation in an interventional (study medication or other experimental intervention) study (within 1 month of participation in this study).
- Unable to travel to site for research visits.
- Unwillingness to sign informed consent form.
- Substance abuser
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
Timed Water Swallow
Time frame: 5 years
The timed water swallow test evaluates the time it takes to swallow a small cup of water
1 secondary outcome
Degree of Neuropathy
Time frame: 5 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 17 Apr 2025.
- Background: PubMed 22215544Marti R, Lopez LC, Hirano M. Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol. 2012;837:121-33. doi: 10.1007/978-1-61779-504-6_8.
- Rare Disease Clinical Research Network, NIHLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. When applicable manuscript(s) will be submitted.
Related trials for Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Active, not recruitingPhase 2
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis Disorders, Hurler Syndrome
RecruitingObservational study
Global Registry and Natural History Study for Mitochondrial Disorders
Mitochondrial Diseases, Kearns-Sayre Syndrome
RecruitingObservational study
MNGIE Natural History Study
MNGIE, Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
RecruitingObservational study
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Mitochondrial Disorders, Mitochondrial Genetic Disorders
Enrolling by invitationObservational study
Tissue Sample Study for Mitochondrial Disorders
Mitochondrial Disorders, Mitochondrial Disease
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 NeuroGastroIntestinal Encephalopathy (MNGIE), 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 7 inclusion and 4 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: looking for participants now, as of the sponsor's last update on 17 Apr 2025. 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?
Contact Kris Engelstad, MS (212-305-6834, NAMDC@columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Timed Water Swallow (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01694953, which also lists 1 linked publication.
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 17 Apr 2025.