Clinical Trial: Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases
Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Observational
Official Title: Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases
Brief Summary: The principal aim of the study is to avoid the diagnostic wanderings of patients suffering from a peroxisomal disorder. For this purpose, a new diagnostic strategy is proposed. It rests on functional metabolic explorations and gene studies directly connected to a first-line enlarged physico-chemical detection of metabolites from peroxisomal origin in clinically suspect patients.
Detailed Summary:
Sponsor: University Hospital, Lille
Current Primary Outcome: Percentage of cases diagnosed by the new procedure versus the number of patients included. [ Time Frame: 14 months ]
Evaluation of a diagnostic strategy based on functional metabolic explorations and gene studies directly connected to a first-line enlarged physico-chemical detection of metabolites from peroxisomal origin in clinically or biologically suspect patients
The study is concomitant with an implementation in the routine Hospitals of the inter-region (West and North of France) of an immediate wide exploration (and not sequential and optional) of diagnostic markers of a pathology peroxisomal. This wide exploration should by itself lead to a diagnosis enrichment and should increase the number of inclusions. But the study, for patients thus included, is also considering an enlarged scanning of functional and genetic explorations that follow inclusion (instead of targeted screening guided primarily by the biological anomaly in the usual practice).
Original Primary Outcome: Same as current
Current Secondary Outcome: Number of new cases diagnosed by the new procedure in relation to the number of habitants per year. [ Time Frame: 14 months ]
Original Secondary Outcome: Same as current
Information By: University Hospital, Lille
Dates:
Date Received: May 22, 2017
Date Started: September 2017
Date Completion: May 2020
Last Updated: May 22, 2017
Last Verified: May 2017
