Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
Public ClinicalTrials.gov record NCT04594590. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
A Natural History Study of Neurodegeneration and Optic Atrophy Caused by SLC25A46 Mutations in Pediatric and Adult Patients
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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 solute carrier family 25 member 46 (SLC25A46) gene.
Study identification
- NCT ID
- NCT04594590
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 9 participants
Conditions and interventions
Eligibility (public fields only)
- Age range
- 0 Years to 65 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Nov 2, 2020
- Primary completion
- Aug 16, 2023
- Completion
- Aug 16, 2023
- Last update posted
- Mar 7, 2024
2020 – 2023
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| UBMD Pediatrics | Buffalo | New York | 14203 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT04594590, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Mar 7, 2024 · Synced Sep 27, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT04594590 live on ClinicalTrials.gov.