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FRIEDREICH ATAXIA- STEROIDOGENESIS

NCT07123142 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 25

Last updated 2026-03-25

No results posted yet for this study

Summary

Friedreich's ataxia (FA) is a rare autosomal recessive disorder caused by GAA repeat expansion in the FXN gene, leading to impaired iron-sulfur (Fe-S) cluster biosynthesis and mitochondrial dysfunction. Fe-S clusters are essential for the function of several enzymes involved in steroid hormone production. While animal and cell culture studies suggest impaired steroidogenesis in FA, no clinical study has systematically evaluated this in human patients. This pilot study aims to investigate adrenal and gonadal steroidogenesis pathways in FA patients using LC-MS/MS-based steroid profiling. A total of 11 genetically confirmed FA patients followed at Istanbul Faculty of Medicine will be enrolled. Clinical data and serum samples will be collected and compared with those of 15 age- and sex-matched healthy controls. The findings are expected to enhance understanding of endocrine alterations in FA and guide future therapeutic approaches.

Conditions

  • Friedreich's Ataxia
  • Steroidogenesis

Sponsors & Collaborators

  • Istanbul University

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-05-01
Primary Completion
2025-10-01
Completion
2025-11-01

Countries

  • Turkey (Türkiye)

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 NCT07123142 on ClinicalTrials.gov