Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
Condition(s) studied
Investigational drug(s) / intervention(s)
Genetic diagnosis (PMDA panel): Blood samples for DNA study
Use of RADIAL algorithm: RADIAL card filling (contains clinical and biological data)
Study 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 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.
Eligibility
Primary outcome measure(s)
- 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). — 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.
Trial sites (8)
| Facility | City | Region | Status |
|---|---|---|---|
| CHU de Besancon- Neurology | Besançon | France | Recruiting |
| CHU de Dijon- Neurology | Dijon | France | Recruiting |
| CHU Lille- Neurology | Lille | France | Not Yet Recruiting |
| CHU Marseille- Neurology | Marseille | France | Recruiting |
| CHU Montpellier - Neurology | Montpellier | France | Recruiting |
| CHU Nancy- Neurology | Nancy | France | Recruiting |
| CHRU de Strasbourg - Neurology/Pediatrics | Strasbourg | France | Recruiting |
| CHU Toulouse- Neurology | Toulouse | France | Recruiting |
More University Hospital, Strasbourg, France trials in France
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
View NCT04261127 on ClinicalTrials.gov ↗ ← All trials in France