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

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: t
View:

• 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

Locations
Other Locations
Turkey
Istanbul University
RECRUITING
Istanbul
Time Frame
Start Date: 2025-05-01
Estimated Completion Date: 2025-11-01
Participants
Target number of participants: 25
Treatments
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
Sponsors
Leads: Istanbul University

This content was sourced from clinicaltrials.gov