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Completed

NCT Number: NCT07123142

FRIEDREICH ATAXIA- STEROIDOGENESIS

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.

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Key information

Conditions

Friedreich's Ataxia Steroidogenesis

Sex eligibility

All sexes

Study type

Observational

Primary location

Istanbul University

Istanbul, 34093, Turkey (Türkiye)

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

(FA Group):

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

Inclusion criteria

(Control Group):

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

Treatment and study plan

Primary outcomes

  1. Serum steroid hormone and intermediate metabolite levels

    Time frame: 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)

Sponsors and collaborators

Lead sponsor

Istanbul University

Other

Registry information

Official study title

Evaluation of Steroidogenesis Disorders in Patients With Friedreich's Ataxia: A Clinical Pilot Study

Acronym: FRIEDSTERO

Important dates

Study start
2025
Primary completion
2025
Study completion
2025
First posted
Aug 14, 2025
Registry last updated
Mar 25, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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