Informations générales (source: ClinicalTrials.gov)
Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia (RADIAL-VALID)
Interventional
N/A
University Hospital, Strasbourg, France (Voir sur ClinicalTrials)
septembre 2021
septembre 2029
29 juin 2024
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.
Etablissements
| Les établissements hors Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| CHU de Besancon- Neurology - Besançon - France | Bereau Matthieu, MD | Contact (sur clinicalTrials) | |||
| CHU de Dijon- Neurology - Dijon - France | Moreau Thibault, MD | Contact (sur clinicalTrials) | |||
| CHU Montpellier - Neurology - Montpellier - France | Marelli Cecilia, MD | Contact (sur clinicalTrials) | |||
| CHU Nancy- Neurology - Nancy - France | Renaud Mathilde, MD | Contact (sur clinicalTrials) | |||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| CHRU de Strasbourg - Neurology/Pediatrics - Strasbourg - France | Tranchant Christine, MD | Contact (sur clinicalTrials) | |||
| CHU Lille- Neurology - Lille - France | Devos David, MD | Contact (sur clinicalTrials) | |||
| CHU Marseille- Neurology - Marseille - France | Azulay Jean-Philippe, MD | Contact (sur clinicalTrials) | |||
| CHU Toulouse- Neurology - Toulouse - France | Ory-Magne Fabienne, MD | Contact (sur clinicalTrials) | |||
Critères
Tous
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
- 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
- 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)