Actively Recruiting
Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
Led by University Hospital, Strasbourg, France · Updated on 2025-08-27
400
Participants Needed
8
Research Sites
414 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patient, male or female, over 5 years old (no upper age limit)
- Cerebellar ataxia with onset before age 40
- Family history compatible with autosomal recessive inheritance (sporadic case, consanguinity, or several cases in siblings)
- Exclusion of acquired causes of cerebellar ataxia
- Unknown genetic diagnosis (patients with known negative result for Friedreich's disease gene are eligible)
- Patients over 18 years old must speak and read French and provide signed informed consent
- Patients under 18 require parental or guardian consent and French language ability for consent
- Patient affiliated to the French national health insurance
- For relatives: over 18 years old, biological parent of included patient, speaking French, able to consent, and affiliated to French national health insurance
- For prospective relatives: availability to visit the participating center where the child is followed
You will not qualify if you...
- Patient who has already undergone targeted sequencing of PMDA genes and/or exome/genome sequencing
- Subject under legal protection measures
- Subject currently in an exclusion period due to another study
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 8 locations
1
CHU de Besancon- Neurology
Besançon, France
Actively Recruiting
2
CHU de Dijon- Neurology
Dijon, France
Actively Recruiting
3
CHU Lille- Neurology
Lille, France
Not Yet Recruiting
4
CHU Marseille- Neurology
Marseille, France
Actively Recruiting
5
CHU Montpellier - Neurology
Montpellier, France
Actively Recruiting
6
CHU Nancy- Neurology
Nancy, France
Actively Recruiting
7
CHRU de Strasbourg - Neurology/Pediatrics
Strasbourg, France
Actively Recruiting
8
CHU Toulouse- Neurology
Toulouse, France
Actively Recruiting
Research Team
T
Tranchant Christine, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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