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Natural History Study of SLC25A46 Mutation-related Mitochondriopathy

NCT04594590 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 9

Last updated 2024-03-08

No results posted yet for this 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 solute carrier family 25 member 46 (SLC25A46) gene.

Conditions

  • Neurodegenerative Disease, Hereditary
  • Mitochondrial Diseases
  • Optic Atrophy

Interventions

GENETIC

Mutation analysis

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

Sponsors & Collaborators

  • Hadley Jo Foundation

    collaborator UNKNOWN

  • State University of New York at Buffalo

    lead OTHER

Principal Investigators

  • Taosheng Huang · State University of New York at Buffalo

Eligibility

Min Age
0 Years
Max Age
65 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-11-03
Primary Completion
2023-08-17
Completion
2023-08-17

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04594590 on ClinicalTrials.gov