NCT04099914: BASE-AAR

Validation of a Clinical Algorithm for the Diagnosis of Recessive Ataxias

Completed Last updated 12 April 2022

What this trial tests

trial in Ataxia in 150 participants. Completed in 30 March 2022.

Timeline

1 November 2019

Primary endpoint
30 March 2022

30 March 2022

Quick facts

Lead sponsor	University Hospital, Montpellier
Status	Completed
Study type	OBSERVATIONAL
Enrollment	150
Start date	1 November 2019
Primary completion	30 March 2022
Estimated completion	30 March 2022
Sites	1 location across France

Conditions studied

• Ataxia — all drugs for Ataxia →

Sponsor

University Hospital, Montpellier

Who can join

18 and older, any sex, with Ataxia. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

The field of clinical diagnosis of recessive cerebellar ataxias (ARCA) is particularly complex and Next Generation Sequencing (NGS) techniques have revolutionized this neuro-genetic field. The current challenge is to optimize the analysis of genetic data generated by NGS because: the processing of data remains very laborious; diagnostic yeld less than 50%; the interpretation of the variants sometimes very difficult. For this purpose of optimization, the team of the University Hospital of Strasbourg has developed a computer algorithm based on 124 clinical and para-clinical parameters (derived from the data of the literature), useful to guide the genes to be targeted in priority by genetic analysis, in the context of a suspicion of ARCA (\> 60 known genes); this algorithm was validated retrospectively in 834 patients with genetically confirmed ARCA (92% Sense, 95% Spec). However, these 834 patients are often the same as those described in the literature and used for the elaboration of the algorithm. This introduces a bias in the initial evaluation of the algorithm, which therefore requires validation in clinical practice, from a cohort of patients referred for suspected ARCA (with or without a found genetic mutation). At the same time, Montpellier's genetics laboratory has developed a bioinformatic method for the search for copy number variations (CNV) that can be applied in a targeted manner to the genes predicted by the algorithm.

The principal aim of this study is the validation of a semi-automated clinical algorithm for NGS molecular diagnosis of ARCA; the secondary objective is to evaluate if the application of this algorithm coupled with a targeted bioinformatic analysis can increase the diagnostic yield of the NGS analysis.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.