FRIEDREICH ATAXIA- STEROIDOGENESIS

NCT07123142 | Completed

• 2 other identifiers: ITF_FERREDOXCEDD2025_FAS_Study
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

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.

Conditions

Friedreich's Ataxia; Steroidogenesis

Keywords

Friedreich's ataxia; steroidogenesis

Outcome Measures

Primary Outcomes (1)

• Serum steroid hormone and intermediate metabolite levels

  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)

  3 months

Study Arms (2)

Friedreich's ataxia group

Genetically confirmed FA

Healthy Control Group

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study includes patients diagnosed with Friedreich's ataxia (FRDA) aged 7 to 33 years and age- and sex-matched healthy controls. All participants are followed in pediatric and adult endocrinology outpatient clinics. The study group consists of 11 FRDA patients (3 females, 8 males), and the control group consists of 15 healthy individuals (5 females, 10 males). Both prepubertal and pubertal subjects are included.

You may qualify if:

• 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

Sponsors & Collaborators

• Istanbul University: lead

Study Sites (1)

Istanbul University

Istanbul, 34093, Turkey (Türkiye)

Location

Related Publications (1)

• 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.

  PMID: 30905359 BACKGROUND

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, Pediatric Endocrinologist

Study Record Dates

• First Submitted: August 8, 2025
• First Posted: August 14, 2025
• Study Start: May 1, 2025
• Primary Completion: October 1, 2025
• Study Completion: November 1, 2025
• Last Updated: March 25, 2026

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)