Autosomal Recessive Cerebellar AtaxiaRADIAL-VALIDNCT04261127
Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
A study testing Genetic diagnosis (PMDA panel) and Use of RADIAL algorithm in people with Autosomal Recessive Cerebellar Ataxia, run by University Hospital, Strasbourg, France at 8 sites in France.
Trial summary
RADIAL is an algorithm which has been developed following a review of the literature on 67 autosomal recessive cerebellar ataxias (ARCA) and personal clinical experience. Frequency and specificity of each feature were defined for each autosomal recessive cerebellar ataxia, and corresponding prediction scores were… Read more about this study
- Who is it for?
- Ages 5 years and olderHealthy volunteers can take part
- Conditions the study is for
- Autosomal Recessive Cerebellar Ataxia
- What is being tested?
- Genetic diagnosis (PMDA panel) and Use of RADIAL algorithm
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 400 participants
- Where
- 8 sitesFrance
- Study dates
- 20 Sep 2021to Sep 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 5 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- For patients:
- Patient, male or female, over 5 years old (no upper age limit)
- Patient with cerebellar ataxia who started before the age of 40
- Patient with a family history compatible with autosomal recessive inheritance (sporadic case, consanguinity, several cases in siblings)
- Patient in which an acquired cause of cerebellar ataxia has been excluded
- Patient whose genetic diagnosis is unknown (NB: patients with a known negative result for the Friedreich's disease gene are eligible for inclusion))
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- For patients over 18 years old: patient speaking and reading French, able to give a signed and dated informed consent to participate in the study.
- Patients who have reached the age of majority and whose DNA has been banked and who have signed a consent form authorizing the subsequent use of this DNA for research purposes, including genetic analysis of cerebellar ataxias or associated pathologies, and for whom the RADIAL information sheet can be completed in full, are eligible for inclusion.
- For patient under 18 years old: Tutor or person with parental authority must speak French and be able to give a signed and dated informed consent for the minor patient.
- Patients who are minors, whose DNA has been banked and for whom the parental authority has signed a consent form authorizing the subsequent use of this DNA for research purposes, including genetic analysis of cerebellar ataxias or associated pathologies, and for whom the RADIAL information sheet can be completed, are eligible.
- Patient affiliated to the French national health insurance
- For relatives:
- Male or female, over 18 years old (no upper age limit)
- Biological father or mother of a patient included in RADIAL-VALID research protocol
- (for prospective inclusion only) To be available for a visit to the participating center where the child is being followed
- Speaking and reading French, able to give a signed and dated informed consent to participate in the study
- Subject affiliated to the French national health insurance
Who cannot join
- For patients:
- Patient in whom targeted sequencing of a panel of PMDA genes and/or exome/genome sequencing have already been performed.
- For patients and related:
- Subject of a legal protection measure
- Subject in exclusion period (determined by previous or current study)
Trial locations and contacts
8 sites in 1 country. Contact the study team or a site near you to ask about taking part.
8 sites in 1 country
France8 sites, 8 recruiting
- Recruiting
CHU de Besancon- Neurology
Besançon
Bereau Matthieu, MD, +33381668166, mbereau@chu-besancon.fr
Bereau Matthieu, MD
- Recruiting
CHU de Dijon- Neurology
Dijon
Moreau Thibault, MD, +33380471248, Thibault.moreau@chu-dijon.fr
Quentin Thomas, MD
- Not yet recruiting
CHU Lille- Neurology
Lille
Devos David, MD, David.DEVOS@CHRU-LILLE.FR
David Devos, MD
- Recruiting
CHU Marseille- Neurology
Marseille
Azulay Jean-Philippe, MD, +33 491380000, jean-philippe.azulay@ap-hm.fr
Azulay Jean-Philippe, MD
- Recruiting
CHU Montpellier - Neurology
Montpellier
Marelli Cecilia, MD, +33 467336733, cecilia.marelli@upmc.fr
Marelli Cecilia, MD
- Recruiting
CHU Nancy- Neurology
Nancy
Renaud Mathilde, MD, +33383154500, m.renaud@chru-nancy.fr
Renaud Mathilde, MD
- Recruiting
CHRU de Strasbourg - Neurology/Pediatrics
Strasbourg
Tranchant Christine, MD, +33388128531, christine.tranchant@chru-strasbourg.fr
Anheim Mathieu, MD, +33388128535, mathieu.anheim@chru-strasbourg.fr
- Recruiting
CHU Toulouse- Neurology
Toulouse
Ory-Magne Fabienne, MD, +33 561772233, ory.f@chu-toulouse.fr
Ory-Magne Fabienne, MD
About this study
RADIAL is an algorithm which has been developed following a review of the literature on 67 autosomal recessive cerebellar ataxias (ARCA) and personal clinical experience. Frequency and specificity of each feature were defined for each autosomal recessive cerebellar ataxia, and corresponding prediction scores were assigned. Clinical and paraclinical features of patients are entered into the algorithm, and a patient's total score for each ARCA is calculated, producing a ranking of possible diagnoses. Sensitivity and specificity of the algorithm were assessed by blinded analysis of a multinational cohort of 834 patients with molecularly confirmed autosomal recessive cerebellar ataxia. The performance of the algorithm was assessed versus a blinded panel of autosomal recessive cerebellar ataxia experts. The correct diagnosis was ranked within the top 3 highest-scoring diagnoses at a sensitivity and specificity of >90% for 84% and 91% of the evaluated genes, respectively. Mean sensitivity and specificity of the top 3 highest-scoring diagnoses were 92% and 95%, respectively. Our aim is now to validate in a prospective cohort of ARCA, the performance of RADIAL to predict the correct genetic diagnosis.
- Conditions
- Autosomal Recessive Cerebellar Ataxia
- Being tested
- Genetic diagnosis (PMDA panel), Use of RADIAL algorithm
- Keywords
- autosomal recessive cerebellar ataxia, algorithm, genetic diagnosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic diagnosis (PMDA panel)Genetic
Blood samples for DNA study
Use of RADIAL algorithmDiagnostic test
RADIAL card filling (contains clinical and biological data)
| Study group | Role | What they receive |
|---|---|---|
| experimental arm | Experimental | The analysis of phenotypic data in RADIAL and the analysis of DNA (analysis of the Friedreich gene ± PMDA panel) will be performed for all patients in order to meet the main objective and the secondary objectives.
Specifically for the secondary objectives (N ° 3, 4 and 5), randomization via eCRF (electronic case report form) will be performed for the interpretation of genetic analyzes (PMDA panel) without inducing any change for the patients. This randomization, by block and by center, will allow the attribution of one of the following two groups:
* Control group: interpretation of genetic analyzes without the use of RADIAL;
* Experimental group: interpretation of genetic analyzes using RADIAL.
Genome analysis (secondary objective n ° 6) will be carried out for all the patients who remained without diagnosis at the end of the first part, and for whom the DNA of relatives is available. Receives: Genetic: Genetic diagnosis (PMDA panel); Diagnostic Test: Use of RADIAL algorithm |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of patients for whom the final genetic diagnosis is in the top 3 of the diagnoses proposed by the RADIAL algorithm (corresponding to the diseases with the 3 highest score given by the algorithm).
The final diagnosis will be established after a genetic analysis and a medical interpretation of the results by geneticists.
Measured: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Secondary outcomes (5)
Percentage of patients for whom the final genetic diagnosis is the first diagnosis proposed by the RADIAL algorithm (corresponding to the disease with the highest score given by the algorithm).
Measured: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Comparison of interpretation times by the clinical-genetic team (genetic and clinical data) with and without the help of the RADIAL algorithm
Randomization is a methodological refinement that is only useful for this secondary endpoint (does not relate to the primary endpoint). The clinical and paraclinical data of all patients will be treated in the same way, and randomization concerns only the use of RADIAL made by the data biologist in sample processing. There is therefore no randomization of subjects but only of genetic results.
At the genetic study stage (Panel PMDA panel), for the patient group randomized "with RADIAL results", the interpretation of genetic data (and in particular of the different variants found) will be done aware of the results given by RADIAL, and in the randomized group "without results RADIAL ", the analysis of the genetic data will be done in the absence of knowledge of the results provided by RADIAL.
Measured: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Comparison of the satisfaction score given by the clinical-genetic team in the interpretation of data with and without the help of the RADIAL algorithm
Randomization is a methodological refinement that is only useful for this secondary endpoint (does not relate to the primary endpoint). The clinical and paraclinical data of all patients will be treated in the same way, and randomization concerns only the use of RADIAL made by the data biologist in sample processing. There is therefore no randomization of subjects but only of genetic results.
At the genetic study stage (Panel PMDA panel), for the patient group randomized "with RADIAL results", the interpretation of genetic data (and in particular of the different variants found) will be done aware of the results given by RADIAL, and in the randomized group "without results RADIAL ", the analysis of the genetic data will be done in the absence of knowledge of the results provided by RADIAL.
Measured: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Influence of RADIAL on genetic diagnosis: percentage of patients whose diagnosis has been reviewed after the clinical-genetic team has learned of the results proposed by RADIAL
Randomization is a methodological refinement that is only useful for this secondary endpoint (does not relate to the primary endpoint). The clinical and paraclinical data of all patients will be treated in the same way, and randomization concerns only the use of RADIAL made by the data biologist in sample processing. There is therefore no randomization of subjects but only of genetic results.
At the genetic study stage (Panel PMDA panel), for the patient group randomized "with RADIAL results", the interpretation of genetic data (and in particular of the different variants found) will be done aware of the results given by RADIAL, and in the randomized group "without results RADIAL ", the analysis of the genetic data will be done in the absence of knowledge of the results provided by RADIAL.
Measured: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Percentage of patients for whom the genome analysis will have detected a new gene.
If no diagnosis is established after the PMDA + RADIAL analyzes, additional genetic analyzes will be carried out for patient and for relatives (genome). These new analyzes should help to define the diagnosis of the patient.
Measured: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Feb 2020
- Study start20 Sep 2021
- Primary completionSep 2029 (estimated)
- Study completionSep 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autosomal Recessive Cerebellar AtaxiaStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Tranchant Christine, MD, Principal investigator, CHRU Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04261127
- Sponsor's protocol ID
- 7346
- Acronym
- RADIAL-VALID
- Status last verified
- Aug 2025
- First submitted
- 5 Feb 2020
- Last updated
- 27 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
- ClinicalTrials.gov ID
- NCT04261127
- Acronym / sponsor ID
- RADIAL-VALID / 7346
- Conditions
- Autosomal Recessive Cerebellar Ataxia
- Keywords
- autosomal recessive cerebellar ataxia, algorithm, genetic diagnosis
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 20 Sep 2021 (actual)
- Primary completion
- Sep 2029 (estimated)
- Study completion
- Sep 2029 (estimated)
- First posted
- 7 Feb 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.
RADIAL is an algorithm which has been developed following a review of the literature on 67 autosomal recessive cerebellar ataxias (ARCA) and personal clinical experience. Frequency and specificity of each feature were defined for each autosomal recessive cerebellar ataxia, and corresponding prediction scores were assigned. Clinical and paraclinical features of patients are entered into the algorithm, and a patient's total score for each ARCA is calculated, producing a ranking of possible diagnoses. Sensitivity and specificity of the algorithm were assessed by blinded analysis of a multinational cohort of 834 patients with molecularly confirmed autosomal recessive cerebellar ataxia. The performance of the algorithm was assessed versus a blinded panel of autosomal recessive cerebellar ataxia experts. The correct diagnosis was ranked within the top 3 highest-scoring diagnoses at a sensitivity and specificity of >90% for 84% and 91% of the evaluated genes, respectively. Mean sensitivity and specificity of the top 3 highest-scoring diagnoses were 92% and 95%, respectively. Our aim is now to validate in a prospective cohort of ARCA, the performance of RADIAL to predict the correct genetic diagnosis.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| experimental arm | Experimental | Genetic: Genetic diagnosis (PMDA panel), Diagnostic Test: Use of RADIAL algorithmThe analysis of phenotypic data in RADIAL and the analysis of DNA (analysis of the Friedreich gene ± PMDA panel) will be performed for all patients in order to meet the main objective and the secondary objectives. Specifically for the secondary objectives (N ° 3, 4 and 5), randomization via eCRF (electronic case report form) will be performed for the interpretation of genetic analyzes (PMDA panel) without inducing any change for the patients. This randomization, by block and by center, will allow the attribution of one of the following two groups: * Control group: interpretation of genetic analyzes without the use of RADIAL; * Experimental group: interpretation of genetic analyzes using RADIAL. Genome analysis (secondary objective n ° 6) will be carried out for all the patients who remained without diagnosis at the end of the first part, and for whom the DNA of relatives is available. |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (17 listed)
- For patients:
- Patient, male or female, over 5 years old (no upper age limit)
- Patient with cerebellar ataxia who started before the age of 40
- Patient with a family history compatible with autosomal recessive inheritance (sporadic case, consanguinity, several cases in siblings)
- Patient in which an acquired cause of cerebellar ataxia has been excluded
Key exclusion criteria (5 listed)
- Patient in whom targeted sequencing of a panel of PMDA genes and/or exome/genome sequencing have already been performed.
- Subject of a legal protection measure
- Subject in exclusion period (determined by previous or current study)
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 |
|---|---|---|
| Genetic diagnosis (PMDA panel)Blood samples for DNA study | Genetic | experimental arm |
| Use of RADIAL algorithmRADIAL card filling (contains clinical and biological data) | Diagnostic test | experimental arm |
Primary outcome
Percentage of patients for whom the final genetic diagnosis is in the top 3 of the diagnoses proposed by the RADIAL algorithm (corresponding to the diseases with the 3 highest score given by the algorithm).
Time frame: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
The final diagnosis will be established after a genetic analysis and a medical interpretation of the results by geneticists.
5 secondary outcomes
Percentage of patients for whom the final genetic diagnosis is the first diagnosis proposed by the RADIAL algorithm (corresponding to the disease with the highest score given by the algorithm).
Time frame: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Comparison of interpretation times by the clinical-genetic team (genetic and clinical data) with and without the help of the RADIAL algorithm
Time frame: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Comparison of the satisfaction score given by the clinical-genetic team in the interpretation of data with and without the help of the RADIAL algorithm
Time frame: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Influence of RADIAL on genetic diagnosis: percentage of patients whose diagnosis has been reviewed after the clinical-genetic team has learned of the results proposed by RADIAL
Time frame: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Percentage of patients for whom the genome analysis will have detected a new gene.
Time frame: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Aug 2025.
- Individual participant dataSharing planned: No
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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.
Tranchant Christine, MD principal investigator
CHRU Strasbourg
8 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genetic diagnosis (PMDA panel) and Use of RADIAL algorithm in people with Autosomal Recessive Cerebellar Ataxia, run by University Hospital, Strasbourg, France at 8 sites 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 17 inclusion and 5 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: looking for participants now, as of the sponsor's last update on 27 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 sites 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Tranchant Christine, MD (+33 3 88 12 85 31, christine.tranchant@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percentage of patients for whom the final genetic diagnosis is in the top 3 of the diagnoses proposed by the RADIAL algorithm (corresponding to the diseases with the 3 highest score given by the algorithm). (time frame: At final visit (depending of genetic results from 2 to 24 month maximum after inclusion visit)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 27 Aug 2025.