Friedreich's AtaxiaFRIEDSTERONCT07123142
FRIEDREICH ATAXIA- STEROIDOGENESIS
An observational study of Friedreich's Ataxia and Steroidogenesis, run by Istanbul University at 1 site in Turkey (Türkiye).
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Friedreich's Ataxia, Steroidogenesis
- How many people
- 25 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 May 2025to 1 Nov 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluation of Steroidogenesis Disorders in Patients With Friedreich's Ataxia: A Clinical Pilot Study
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.
Read the 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
- Keywords
- Friedreich's ataxia, steroidogenesis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Aug 2025
- Study start1 May 2025
- Primary completion1 Oct 2025
- Study completion1 Nov 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Friedreich's AtaxiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- Istanbul University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ozge Bayrak Demirel, Istanbul University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07123142
- Sponsor's protocol ID
- ITF_FERREDOX
- Other IDs
- CEDD2025_FAS_Study
- Acronym
- FRIEDSTERO
- Status last verified
- Aug 2025
- First submitted
- 8 Aug 2025
- Last updated
- 25 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The study involves sensitive individual patient data collected in a clinical setting. Due to ethical concerns, data privacy regulations, and the limited sample size that may risk re-identification, individual participant data (IPD) will not be shared.
Publications
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.
PubMed 30905359
Study at a glance
From the registry record, last updated by the sponsor on 25 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Steroidogenesis Disorders in Patients With Friedreich's Ataxia: A Clinical Pilot Study
- ClinicalTrials.gov ID
- NCT07123142
- Acronym / sponsor ID
- FRIEDSTERO / ITF_FERREDOX
- Conditions
- Friedreich's Ataxia, Steroidogenesis
- Keywords
- Friedreich's ataxia, steroidogenesis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 25 participants (actual)
- Lead sponsor
- Istanbul UniversityUniversity, hospital or other
- Study start
- 1 May 2025 (actual)
- Primary completion
- 1 Oct 2025 (actual)
- Study completion
- 1 Nov 2025 (actual)
- First posted
- 14 Aug 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Mar 2026.
- Background: PubMed 30905359Zhang 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.
- Individual participant dataSharing planned: No. The study involves sensitive individual patient data collected in a clinical setting. Due to ethical concerns, data privacy regulations, and the limited sample size that may risk re-identification, individual participant data (IPD) will not be shared.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Friedreich's Ataxia and Steroidogenesis, run by Istanbul University at 1 site in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 25 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Serum steroid hormone and intermediate metabolite levels (time frame: 3 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07123142, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Mar 2026.