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

NCT04261127 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 400

Last updated 2025-08-27

No results posted yet for this 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.

Conditions

  • Autosomal Recessive Cerebellar Ataxia

Interventions

GENETIC

Genetic diagnosis (PMDA panel)

Blood samples for DNA study

DIAGNOSTIC_TEST

Use of RADIAL algorithm

RADIAL card filling (contains clinical and biological data)

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Principal Investigators

  • Tranchant Christine, MD · CHRU Strasbourg

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
5 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-09-20
Primary Completion
2029-09-30
Completion
2029-09-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04261127 on ClinicalTrials.gov