Natural History Study for Mitochondrial Neurogastrointestinal Encephalomyopathy

(NAHIM Trial)

Overseen By Kris Engelstad, MS

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Columbia University

Disqualifiers: Interventional study, Travel inability, Substance abuse, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 10

20 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to learn more about Mitochondrial NeurogastroIntestinal Encephalopathy (MNGIE), a rare disease affecting the digestive system and nerves. Researchers will observe patients over time to better understand the symptoms and develop methods to measure the disease's progress for future studies. The study does not test a new treatment; instead, it focuses on gathering information. Suitable participants have specific genetic mutations linked to MNGIE and experience symptoms such as severe digestive issues.

As an unphased study, this trial allows patients to contribute to vital research that could lead to a better understanding and future treatments for MNGIE.

Do I need to stop my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

Why are researchers excited about this trial?

Researchers are excited about this trial because it focuses on understanding the natural progression of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE), a rare and complex disorder. Unlike other studies that test new drugs or therapies, this trial aims to gather detailed information about how MNGIE develops and affects patients over time. By comprehensively mapping the disease's progression, scientists hope to uncover critical insights that could lead to better diagnostic tools and more effective treatments in the future. This foundational knowledge is crucial for developing targeted therapies that can address the unique challenges posed by MNGIE.

Who Is on the Research Team?

Michio Hirano, MD

Principal Investigator

Columbia University

Are You a Good Fit for This Trial?

Inclusion Criteria

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

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Observation

Participants are observed and evaluated for clinical symptoms of MNGIE at six-month intervals

5 years

10 visits (in-person, every 6 months)

Follow-up

Participants are monitored for safety and effectiveness after the observation period

6 months

What Are the Treatments Tested in This Trial?

Interventions

• None

Who Is Running the Clinical Trial?

Columbia University

Lead Sponsor

Trials

1,529

Recruited

2,832,000+

National Institute of Neurological Disorders and Stroke (NINDS)

Collaborator

Trials

1,403

Recruited

655,000+