- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01694953
The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) (NAHIM)
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.
Study Overview
Status
Detailed Description
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Kris Engelstad, MS
- Phone Number: 212-305-6834
- Email: NAMDC@columbia.edu
Study Locations
-
-
New York
-
New York, New York, United States, 10032
- Recruiting
- Columbia University
-
Principal Investigator:
- Michio Hirano, MD
-
Contact:
- Kris Engelstad, MS
- Phone Number: 212-305-6834
- Email: ke4@columbia.edu
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
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.
Exclusion Criteria:
- 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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
---|
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 the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Timed Water Swallow
Time Frame: 5 years
|
The timed water swallow test evaluates the time it takes to swallow a small cup of water
|
5 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Degree of Neuropathy
Time Frame: 5 years
|
A general neurological exam will be performed to assess the degree of neuropathy.
|
5 years
|
Other Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Score on Mini Mental State Exam
Time Frame: 5 years
|
A short assessment of cognitive function will be performed.
|
5 years
|
Collaborators and Investigators
Sponsor
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Digestive System Diseases
- Metabolic Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Gastrointestinal Diseases
- Musculoskeletal Diseases
- Muscular Diseases
- Neuromuscular Diseases
- Intestinal Diseases
- Brain Diseases, Metabolic
- Mitochondrial Diseases
- Intestinal Obstruction
- Mitochondrial Myopathies
- Ileus
- Brain Diseases
- Mitochondrial Encephalomyopathies
- Intestinal Pseudo-Obstruction
Other Study ID Numbers
- AAAI5453
- 1U54NS078059 (U.S. NIH Grant/Contract)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
IPD Sharing Time Frame
IPD Sharing Access Criteria
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
-
Michio Hirano, MDNational Institute of Neurological Disorders and Stroke (NINDS); Cornell UniversityWithdrawnMitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
-
Entrada Therapeutics, Inc.SuspendedMitochondrial Neurogastrointestinal EncephalomyopathyUnited States, Turkey
-
McGill University Health Centre/Research Institute...RecruitingMitochondrial Diseases | Mitochondrial Encephalomyopathy | Mitochondrial Encephalopathy | Mitochondrial DNA Depletion | Mitochondrial Metabolism DisordersCanada
-
Columbia UniversityEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationMitochondrial Disease | Mitochondrial Disorders | Melas | Kearns Sayer | NARP | MNGIE | LHON | Mitochondrial Depletion Syndrome | Leigh's DiseaseUnited States
-
The University of Texas Health Science Center,...RecruitingLeigh Disease | Leigh Syndrome | Leigh's Necrotizing Encephalopathy | Subacute Necrotizing Encephalomyopathy | Subacute Necrotizing EncephalomyelopathyUnited States
-
University of California, San DiegoNew York University; Heinrich-Heine University, Duesseldorf; Universität TübingenRecruitingGenetic Disease | Mitochondrial Encephalomyopathies | Neonatal Encephalopathy | Mutation | Hereditary Spastic Paraplegia | White Matter Disease | Spastic ParaplegiaUnited States
-
PTC TherapeuticsCompletedMitochondrial Diseases | Drug Resistant Epilepsy | Leigh Disease | Leigh Syndrome | Mitochondrial Encephalopathy (MELAS) | Pontocerebellar Hypoplasia Type 6 (PCH6) | Alpers Disease | Alpers SyndromeUnited States, Spain, United Kingdom, Canada, France, Italy, Poland, Sweden, Japan
-
Michio HiranoSanthera PharmaceuticalsCompletedMELAS SyndromeUnited States
-
Jesús González de la Aleja TejeraCompleted
-
LMU KlinikumUniversity of Pisa; German Federal Ministry of Education and Research; European...RecruitingMitochondrial Diseases | MDS | Mitochondrial Myopathies | MELAS Syndrome | MIDD | Kearns-Sayre Syndrome | MERRF Syndrome | Barth Syndrome | Leigh Syndrome | MNGIE | LHON | Pearson Syndrome | NARP Syndrome | Coenzyme Q10 Deficiency | SANDO | SCAE | MIRAS | CPEOAustria, Germany, Italy