Actively Recruiting
The Diagnostic Observatory: Combating Diagnostic Wandering and Impasse Within the AnDDI-Rares Network
Led by Centre Hospitalier Universitaire Dijon · Updated on 2025-11-26
1280
Participants Needed
1
Research Sites
361 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
The Diagnostic Observatory: Combating Diagnostic Wandering and Impasse Within the AnDDI-Rares Network
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Children or adults without a diagnosis after evaluation for developmental abnormalities including malformations, facial dysmorphia, learning or intellectual disabilities
- Patients agreeing to new diagnostic testing including blood samples for genome sequencing
- Affiliation to national health insurance or equivalent
- Patients with developmental anomalies and a de novo CNV over 1 Mb of unknown or benign significance detected by CGH array
- Patients and parents agreeing to resume diagnostic testing after CNV reanalysis
- Patients with clinical diagnosis of Noonan, CHARGE, Kabuki, Cornelia de Lange, or Rubinstein-Taybi syndromes with negative molecular diagnosis
- Parents able to consent and understand study procedures
- Signed informed consent from biological parents and/or patient if adult
You will not qualify if you...
- Patients without developmental abnormalities
- Patients with known diagnosis at time of past consultations
- Patients unlikely to have the clinical diagnosis under study
- Families unwilling to pursue molecular investigations
- Patients previously investigated through another research project
- Parents under court protection
- Families where both parental authority holders are not biological parents
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Chu Dijon Bourogne
Dijon, France, 21000
Actively Recruiting
Research Team
L
Laurence OLIVIER-FAIVRE
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here