FRIEDREICH ATAXIA- STEROIDOGENESIS

Recruiting

• Conditions: Friedreich's Ataxia; Steroidogenesis

• Registration Number: NCT07123142
• Lead Sponsor: Istanbul University

Brief 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.

Detailed Description

Friedreich's ataxia (FA) is characterized by mitochondrial dysfunction due to impaired iron-sulfur (Fe-S) cluster formation caused by GAA repeat expansion in the FXN gene. Fe-S clusters are crucial for the activity of several mitochondrial enzymes, including cytochrome P450 family members such as CYP11A1, CYP11B1, and CYP11B2, which are involved in the biosynthesis of steroid hormones. These enzymes require ferredoxin and ferredoxin reductase, whose function also depends on Fe-S clusters. Experimental studies have shown reduced levels of testosterone and progesterone in FA models, suggesting that steroidogenesis is disrupted in FA. This study will evaluate the steroid profiles of FA patients via LC-MS/MS, compare them with healthy controls, and investigate correlations with age, sex, and disease severity. It will be the first clinical study to address steroidogenic defects in FA patients.

Study Timeline

• Study Start: 2025-05-01
• Status Verified: 2025-08
• Study First Submitted: 2025-08-08
• Study First Submitted QC: 2025-08-08
• Last Update Submitted: 2025-08-08
• Study First Posted: 2025-08-14
• Last Update Posted: 2025-08-14
• Primary Completion: 2025-10-01
• Study Completion: 2025-11-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 25

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Serum steroid hormone and intermediate metabolite levels	3 months	Serum steroid hormone and intermediate metabolite levels (e.g., progesterone, testosterone, DHEA, cortisol, etc.) measured via LC-MS/MS (Time Frame: within 1 month of sampling)

Trial Locations

Locations (1)

Istanbul University; 🇹🇷 Istanbul, Turkey