Ireland
--:--IST
Latest
Astellas Expands Its 330 Million Euro Tralee Biopharma Facility with a Second Aseptic Filling Line to Double Drug-Product Capacity Xeolas Pharmaceuticals Opens 158,000 Sq Ft State-of-the-Art Baldoyle Facility to Scale Specialty Medicine Manufacturing Priya Life Science Partners with Fleming for the 9th Annual Corporate Compliance & Transparency in Life Sciences Summit in Zurich Ireland Has the Capital and the Lessons: Digital Project Management Is How They Become Delivery Dunbar Pharma Brings First Plant-Derived Dronabinol API to UK Market Through IPS Pharma Leveraging Priya Life Science as a Data Tracker: The Ultimate Use Case & Career Guide The €100K Reality Check: Why a Six-Figure Pharma Salary in Ireland Feels Different Than in Switzerland or Germany Ireland's €93.8 Billion Non-EU Pharma Export Engine: Trade Data, Destination Markets, and Economic Impact Astellas Expands Its 330 Million Euro Tralee Biopharma Facility with a Second Aseptic Filling Line to Double Drug-Product Capacity Xeolas Pharmaceuticals Opens 158,000 Sq Ft State-of-the-Art Baldoyle Facility to Scale Specialty Medicine Manufacturing Priya Life Science Partners with Fleming for the 9th Annual Corporate Compliance & Transparency in Life Sciences Summit in Zurich Ireland Has the Capital and the Lessons: Digital Project Management Is How They Become Delivery Dunbar Pharma Brings First Plant-Derived Dronabinol API to UK Market Through IPS Pharma Leveraging Priya Life Science as a Data Tracker: The Ultimate Use Case & Career Guide The €100K Reality Check: Why a Six-Figure Pharma Salary in Ireland Feels Different Than in Switzerland or Germany Ireland's €93.8 Billion Non-EU Pharma Export Engine: Trade Data, Destination Markets, and Economic Impact
Recruiting Not applicable

Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia

NCT04261127 · tracked via the Priya Life Science France tracker
Phase
Not applicable
Started
2021-09-20
Last updated
2025-08-27

Condition(s) studied

Autosomal Recessive Cerebellar Ataxia

Investigational drug(s) / intervention(s)

Genetic diagnosis (PMDA panel)Use of RADIAL algorithm

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

Sex
ALL
Min age
5 Years
Max age
—
Healthy volunteers
Accepted
Inclusion Criteria: \- For patients: 1. Patient, male or female, over 5 years old (no upper age limit) 2. Patient with cerebellar ataxia who started before the age of 40 3. Patient with a family history compatible with autosomal recessive inheritance (sporadic case, consanguinity, several cases in siblings) 4. Patient in which an acquired cause of cerebellar ataxia has been excluded 5. Patient whose genetic diagnosis is unknown (NB: patients with a known negative result for the Friedreich's disease gene are eligible for inclusion)) 6. 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. 7. 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. 8. Patient affiliated to the French national health insurance \- For relatives: 9. Male or female, over 18 years old (no upper age limit) 10. Biological father or mother of a patient included in RADIAL-VALID research protocol 11. (for prospective inclusion only) To be available for a visit to the participating center where the child is being followed 12. Speaking and reading French, able to give a signed and dated informed consent to participate in the study 13. Subject affiliated to the French national health insurance Exclusion Criteria: \- For patients: 14. Patient in whom targeted sequencing of a panel of PMDA genes and/or exome/genome sequencing have already been performed. * For patients and related: 15. Subject of a legal protection measure 16. Subject in exclusion period (determined by previous or current study)

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)

FacilityCityRegionStatus
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
Official registry record

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