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

NCT05448326 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1280

Last updated 2025-11-26

No results posted yet for this study

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

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

Sponsors & Collaborators

  • Centre Hospitalier Universitaire Dijon

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-03-28
Primary Completion
2029-03-31
Completion
2029-03-31

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 NCT05448326 on ClinicalTrials.gov