NCT05448326

The Diagnostic Observatory: Combating Diagnostic Wandering and Impasse Within the AnDDI-Rares Network

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,280 (estimated)
• Sponsor: Centre Hospitalier Universitaire Dijon · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

The Direction Générale de l'Organisation des Soins (DGOS) and the Banque Nationale de Données Maladies Rares (BNDMR) have launched a call for a letter of commitment for the implementation of a diagnostic observatory in order to fight against diagnostic wandering and impasse. In this context, the AnDDI-Rares network proposes 3 work packages (WP) to respond to the missions entrusted to it. Work package 1 of the diagnostic observatory includes a retrospective and prospective study to evaluate how diagnostic wandering and impasse has evolved within the network, with regard to the integration of new technologies, and the expectations of patients and their families. Work package 2 of the diagnostic observatory includes a reassessment of sporadic copy number variations (CNV) of unknown significance of more than 1 Mb obtained since the beginning of CGH array analyses in the territory. Work package 3 of the diagnostic observatory aims to help put an end to diagnostic wandering for patients with certain emblematic syndromes by proposing genome and RNA analysis, which provides a certain diagnosis and negative targeted molecular study.

Conditions

• Developmental Abnormality

Interventions

Type	Name	Description
OTHER	Questionnaire to assess expectations of a diagnosis	Duration 45 minutes
OTHER	Questionnaire to assess understanding of previously reported results and expectations of a diagnosis	Duration 30 minutes
BIOLOGICAL	Blood sample +/- skin biopsy	8 ml of blood biopsy: size 3 to 5 mm

Timeline

• Start date: 2022-03-28
• Primary completion: 2029-03-01
• Completion: 2029-03-01
• First posted: 2022-07-07
• Last updated: 2025-11-26

Locations

1 site across 1 country: France