FRIEDREICH ATAXIA- STEROIDOGENESIS

NCT ID: NCT07123142

Last Updated: 2025-09-03

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 25 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-05-01
• Study Completion Date: 2025-11-01

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.

Conditions

Friedreich's Ataxia; Steroidogenesis

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Friedreich's ataxia group

Genetically confirmed FA

No interventions assigned to this group

Healthy Control Group

not having any known disease and being similar age, sex and pubertal status with the disease group

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Genetically confirmed Friedreich's Ataxia diagnosis
• Signed informed consent (parents and/or participants depending on age)

• Healthy individuals with no known chronic or endocrine disease
• Age- and sex-matched to FA patients
• Signed informed consent

• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Istanbul University

OTHER

Sponsor Role: lead

Responsible Party

Ozge Bayrak Demirel

MD, Pediatric Endocrinologist

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Istanbul University

Istanbul, , Turkey (Türkiye)

Site Status: RECRUITING

Countries

Turkey (Türkiye)

Facility Contacts

Ozge Bayrak Demirel, MD, Pediatric Endocrinologist

Role: primary

ozge.bayrakdemirel@istanbul.edu.tr

+902124142000

Firdevs Bas, Professor

Role: backup

+90 212 414 20 00

References

Zhang S, Napierala M, Napierala JS. Therapeutic Prospects for Friedreich's Ataxia. Trends Pharmacol Sci. 2019 Apr;40(4):229-233. doi: 10.1016/j.tips.2019.02.001.

Reference Type: BACKGROUND

PMID: 30905359 (View on PubMed)

Other Identifiers

CEDD2025_FAS_Study

Identifier Type: OTHER

Identifier Source: secondary_id

ITF_FERREDOX

Identifier Type: -

Identifier Source: org_study_id