Natural History Study of SLC25A46 Mutation-related Mitochondriopathy

Completed

Conditions studied: Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy

In brief

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.

Key facts

Study ID

NCT04594590

Run by

State University of New York at Buffalo

People needed

9

Starts

2020-11-03

Expected to finish

2023-08-17

Last updated by the study team

2024-03-08

Who can join

Age: any, up to 65. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Patients who are clinically diagnosed with biallelic mutations in the SLC25A46 gene
• Male and female patients from 2 to 65 years of age
• Patients who have consented to the study
• In the case of a deceased patient whose parent(s) and/or legal guardian(s) have provided informed consent for study participation, the investigators will review the patient's medical records to determine study eligibility.

You may not qualify if…

• Significant postnatal complications or congenital anomalies that are not known to be associated with SLC25A46 dysfunction
• Patient has received any experimental treatment for SLC25A46 dysfunction within the 6 months prior to enrollment, or is expected to receive any such therapy during the study period

Where it is running

• UBMD Pediatrics — Buffalo, New York, United States

Full record on ClinicalTrials.gov

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