Natural History Study of SLC25A46 Mutation-related Mitochondriopathy

CompletedOBSERVATIONAL
Enrollment

9

Participants

Timeline

Start Date

November 3, 2020

Primary Completion Date

August 17, 2023

Study Completion Date

August 17, 2023

Conditions
Neurodegenerative Disease, HereditaryMitochondrial DiseasesOptic Atrophy
Interventions
GENETIC

Mutation analysis

The investigators will sequence DNA samples from the patients or their families.

Trial Locations (1)

14203

UBMD Pediatrics, Buffalo

All Listed Sponsors
collaborator

Hadley Jo Foundation

UNKNOWN

lead

State University of New York at Buffalo

OTHER

NCT04594590 - Natural History Study of SLC25A46 Mutation-related Mitochondriopathy | Biotech Hunter | Biotech Hunter