Friedreich AtaxiaINTREP-AFNCT04346238
Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia
An observational study of Friedreich Ataxia, run by University Hospital, Montpellier at 1 site in France.
Trial summary
Friedreich's ataxia (FA) is the most frequent recessive genetic ataxia with an estimated prevalence of 1/50 000. The first symptoms appear around the age of 10 years with a progressive course and the need for an armchair 10- 15 years after the first symptoms. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Friedreich Ataxia
- What is being tested?
- Reuse of existing data from patients' medical records
- How many people
- 120 participants
- Where
- 1 siteFrance
- Study dates
- 1 Mar 2020to 1 Dec 2024
- 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Friedriech Ataxia genetically confirmed. .
Who may be able to join
- Subjects with diagnosis of genetically confirmed Friedreich's Ataxia (AF) and :
- two expansions of GAAN triplets (> 100 repetitions or "premutation", corresponding to> 32 but <100 repetitions) located in intron 1 of the FXN gene present on the two alleles;
- symptomatic (SARA scale> 4);
- having signed a consent for the performance of genetic analyzes which also includes the authorization for the conduct of further studies for research purposes and the authorization for the collection, entry and computer processing of medical data, in all confidentiality. A newsletter on the principle of non-opposition will be sent.
Who cannot join
- Patients with Friedreich's ataxia due to an expansion associated with a point mutation or a deletion in trans;
- Patients who, at the time of signing the genetic consent, objected to the use of their data for research purposes.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia : INTREP-AF
Friedreich's ataxia (FA) is the most frequent recessive genetic ataxia with an estimated prevalence of 1/50 000. The first symptoms appear around the age of 10 years with a progressive course and the need for an armchair 10- 15 years after the first symptoms. More rarely the disease can present with a late onset (after the age of 25) with a picture characterized by spastic paraparesis and slower progression ("LOFA" for "Late Onset Friedreich Ataxia" or VLOFA for "Very Late Appearance of Friedreich's ataxia ").
AF is caused in 96% of cases by an expansion of GAAN triplets (N> 100 repeats) located in intron 1 of the FXN gene, present on the two alleles, and, in the rest of the cases, by an associated expansion a point mutation or a deletion in trans. During molecular diagnostics, it is not uncommon to find the presence of interruptions within the GAA expansion. This results in the absence and / or the shift of peak (s) within the chromatogram.
Read more
To date, only the partial correlation between the size of the expansion and the age of onset of Friedreich's ataxia has been established. In particular, very atypical forms of AF with a late onset (after the age of 25) are in particular explained by the low number of repetitions in the expansion, typically between 100 and 500 repetitions. However, the presence of an interruption could stabilize the size of the expansion and, therefore, be mainly associated with expansions of small sizes and therefore with a late onset of the disease.
The objective of this study is therefore to analyse and caracterize the presence and the type of interruptions of the GAA expansions in a group of patients with FA ; this data will be correlated with the age at onset of FA.
- Conditions
- Friedreich Ataxia
- Being tested
- Reuse of existing data from patients' medical records
- Keywords
- Neurology, Genetic, Friedreich ataxia
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Reuse of existing data from patients' medical recordsOther
Reuse of existing data from patients' medical records
| Study group | Role | What they receive |
|---|---|---|
| Patients with Friedriech Ataxia genetically confirmed | Patients with Friedriech Ataxia genetically confirmed Receives: Other: Reuse of existing data from patients' medical records |
What is being measured
The primary outcome is the main question the study is designed to answer.
Interruptions and date at onset
Study the correlation between the presence and type of interruptions (location within the expansion, nucleotide sequence: "GAAA", "GAG", etc.) and the age of onset of Friedreich's ataxia.
Measured: 18 months
Secondary outcomes (1)
Clinical correlation
Estimate the interaction between the presence and type of interruption and the age of onset of the various functional impacts (walking, cardiac involvement).
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Apr 2020
- Study start1 Mar 2020
- Primary completion30 Mar 2024
- Study completion1 Dec 2024
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 AtaxiaStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- 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 only
- Time perspective
- Retrospective
- Enrolment
- 120 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Collaborators
- Neurogenetic department, CHU Bordeaux, Genetic Department , CHU Montpellier-France, Neurology department, CHU La réunion
- Responsible party
- Sponsor
- Investigators
- Cecilia Marelli, MD, Principal investigator, University Hospitals of Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04346238
- Sponsor's protocol ID
- RECHMPL20_0029
- Acronym
- INTREP-AF
- Status last verified
- May 2026
- First submitted
- 10 Apr 2020
- Last updated
- 2 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: NC
Publications
Benkirane M, Marelli C, Choumert A, Goizet C, Patat O, Ewenczyk C, Anheim M, Megarbane A, Larrieu L, Charlin C, Ory-Magne F, Chaussenot A, Fradin M, Guissart C, Pointaux M, Cossee M, Vincent MC, Bergougnoux A, Hersent C, Bareil C, Roubertie A, Fluchere F, Renaud M, Kremer L, Tranchant C, Attarian S, Odent S, Laugel V, Walther-Louvier U, Desnous B, Bieth E, Husson I, Azulay JP; INTREP-AF consortium; Rivier F, Doray B, Durr A, Aouinti S, Molinari N, Koenig M. Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia. Genet Med. 2025 Dec;27(12):101588. doi: 10.1016/j.gim.2025.101588. Epub 2025 Sep 23.
PubMed 41014100
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia : INTREP-AF
- ClinicalTrials.gov ID
- NCT04346238
- Acronym / sponsor ID
- INTREP-AF / RECHMPL20_0029
- Conditions
- Friedreich Ataxia
- Keywords
- Neurology, Genetic, Friedreich ataxia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 120 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Collaborators
- Neurogenetic department, CHU Bordeaux, Genetic Department , CHU Montpellier-France, Neurology department, CHU La réunion
- Study start
- 1 Mar 2020 (actual)
- Primary completion
- 30 Mar 2024 (actual)
- Study completion
- 1 Dec 2024 (actual)
- First posted
- 15 Apr 2020 (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 the most frequent recessive genetic ataxia with an estimated prevalence of 1/50 000. The first symptoms appear around the age of 10 years with a progressive course and the need for an armchair 10- 15 years after the first symptoms. More rarely the disease can present with a late onset (after the age of 25) with a picture characterized by spastic paraparesis and slower progression ("LOFA" for "Late Onset Friedreich Ataxia" or VLOFA for "Very Late Appearance of Friedreich's ataxia ").
AF is caused in 96% of cases by an expansion of GAAN triplets (N> 100 repeats) located in intron 1 of the FXN gene, present on the two alleles, and, in the rest of the cases, by an associated expansion a point mutation or a deletion in trans. During molecular diagnostics, it is not uncommon to find the presence of interruptions within the GAA expansion. This results in the absence and / or the shift of peak (s) within the chromatogram.
To date, only the partial correlation between the size of the expansion and the age of onset of Friedreich's ataxia has been established. In particular, very atypical forms of AF with a late onset (after the age of 25) are in particular explained by the low number of repetitions in the expansion, typically between 100 and 500 repetitions. However, the presence of an interruption could stabilize the size of the expansion and, therefore, be mainly associated with expansions of small sizes and therefore with a late onset of the disease.
The objective of this study is therefore to analyse and caracterize the presence and the type of interruptions of the GAA expansions in a group of patients with FA ; this data will be correlated with the age at onset of FA.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Friedriech Ataxia genetically confirmed | – | Other: Reuse of existing data from patients' medical recordsPatients with Friedriech Ataxia genetically confirmed |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Friedriech Ataxia genetically confirmed. .
Key inclusion criteria (4 listed)
- Subjects with diagnosis of genetically confirmed Friedreich's Ataxia (AF) and :
- two expansions of GAAN triplets (> 100 repetitions or "premutation", corresponding to> 32 but <100 repetitions) located in intron 1 of the FXN gene present on the two alleles;
- symptomatic (SARA scale> 4);
- having signed a consent for the performance of genetic analyzes which also includes the authorization for the conduct of further studies for research purposes and the authorization for the collection, entry and computer processing of medical data, in all confidentiality. A newsletter on the principle of non-opposition will be sent.
Key exclusion criteria (2 listed)
- Patients with Friedreich's ataxia due to an expansion associated with a point mutation or a deletion in trans;
- Patients who, at the time of signing the genetic consent, objected to the use of their data for research purposes.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Reuse of existing data from patients' medical recordsReuse of existing data from patients' medical records | Other | Patients with Friedriech Ataxia genetically confirmed |
Primary outcome
Interruptions and date at onset
Time frame: 18 months
Study the correlation between the presence and type of interruptions (location within the expansion, nucleotide sequence: "GAAA", "GAG", etc.) and the age of onset of Friedreich's ataxia.
1 secondary outcome
Clinical correlation
Time frame: 18 months
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 2 Jun 2026.
- Results publication: PubMed 41014100Benkirane M, Marelli C, Choumert A, Goizet C, Patat O, Ewenczyk C, Anheim M, Megarbane A, Larrieu L, Charlin C, Ory-Magne F, Chaussenot A, Fradin M, Guissart C, Pointaux M, Cossee M, Vincent MC, Bergougnoux A, Hersent C, Bareil C, Roubertie A, Fluchere F, Renaud M, Kremer L, Tranchant C, Attarian S, Odent S, Laugel V, Walther-Louvier U, Desnous B, Bieth E, Husson I, Azulay JP; INTREP-AF consortium; Rivier F, Doray B, Durr A, Aouinti S, Molinari N, Koenig M. Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia. Genet Med. 2025 Dec;27(12):101588. doi: 10.1016/j.gim.2025.101588. Epub 2025 Sep 23.
- Individual participant dataSharing planned: Undecided. NC
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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.
Cecilia Marelli, MD principal investigator
University Hospitals of Montpellier
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 Ataxia, run by University Hospital, Montpellier at 1 site in France.
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 4 inclusion and 2 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 2 Jun 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 France. 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?
Interruptions and date at onset (time frame: 18 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 NCT04346238, 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 2 Jun 2026.