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NCT04580979 · ClinicalTrials.gov registry record
Natural History Study of FDXR Mutation-related Mitochondriopathy
A clinical trial, sponsored by State University of New York at Buffalo.
- Completed
- Registry status
- 33
- Enrollment target
NCT04580979: Completed study, sponsored by State University of New York at Buffalo.
NCT04580979 is a clinical trial that has completed, run by State University of New York at Buffalo. The registered enrollment target is 33 participants. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT04580979 has completed, sponsored by State University of New York at Buffalo.
- COMPLETED
- Registry status
- 33 participants
- Enrollment target
Study Summary
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the ferredoxin reductase gene.
Primary Outcome
In addition to a standard medical history, patients or their legal guardians will be asked to complete a custom medical history questionnaire tailored toward conditions commonly observed in patients with biallelic FDXR mutations. The items that will be asked about in this questionnaire are as follows: 1. Known mutations in FDXR 2. Any family history of illness 3. Complications of pregnancy 4. Premature birth 5. Complications with birth 6. Developmental delay 7. Developmental regression 8. Abnor
Interventions
- GENETIC Mutation analysis
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 33 participants |
| Start Date | 2020-11-03 |
| Est. Completion | 2023-08-17 |
What the finished NCT04580979 record still lists
NCT04580979 is an observational study that tracks outcomes without assigning an intervention. The registry caps enrollment at 33 participants, a relatively small participant target.
The record links to 0 conditions, and to 1 intervention - of which Mutation analysis is the first listed.
NCT04580979 does not publish any study locations in the registry export this page uses.
Frequently Asked Questions
What is clinical trial NCT04580979 about?
NCT04580979 is a clinical study titled "Natural History Study of FDXR Mutation-related Mitochondriopathy". The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the ferredoxin reductase gene.
What is the current status of trial NCT04580979?
This trial is currently completed. The enrollment target is 33 participants. The study started on 2020-11-03. Estimated completion is 2023-08-17.
What interventions are being tested in trial NCT04580979?
The interventions under investigation include: Mutation analysis (GENETIC).
Who is sponsoring clinical trial NCT04580979?
This trial is sponsored by State University of New York at Buffalo, which has 243 total clinical trials registered on ClinicalTrials.gov.
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