A project to improve diagnosis for patients with developmental abnormalities

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This project aims to establish a diagnostic observatory to address issues of diagnostic wandering and impasse within the AnDDI-Rares network. It includes three work packages: the first evaluates the evolution of diagnostic challenges in relation to new technologies and patient expectations; the second reassesses sporadic copy number variations of unknown significance; and the third focuses on ending diagnostic wandering for patients. The study employs questionnaires and blood samples to gather data and insights from patients and their families.

Why it matters

Who can join: the full rules

Inclusion Criteria:

WP1:

\- Children or adult patients who did not obtain a diagnosis after consulting for a developmental abnormality (that may include isolated or multiple, minor or major malformations, facial dysmorphia associated or not with learning disabilities and/or intellectual disability). These patients had a diagnostic evaluation over the 2 weeks randomly drawn from 2012 and 2022.

Patients agreeing to resume a diagnostic approach requiring new blood samples. For genome sequencing through the platforms of the France Genomic Medicine Plan, when they correspond to the criteria of existing preindications, the parents' sample will be proposed.

\- Patients (adults or their parents) affiliated to national health insurance or beneficiaries of such a system

WP2:

For the identification of patients eligible for reanalysis (Part 1 Lab) :

* Patients, children or adults with developmental anomalies with or without neurodevelopmental disorders,
* Patients in whim a de novo CNV of unknown significance of more than 1 Mb has been detected since the implementation of the CGH array platforms
* The CNV remained of unknown significance or classified as (probably) benign after reanalysis\* \*reanalysis other than that performed in the context of the diagnostic observatory

For reanalysis, in addition to the previous inclusion criteria (Part 2 Clinical):

* CNV remained of unknown significance or classified as (probably) benign after reanalysis\*\*
* Patients and/or their parents agreeing to resume diagnostic testing
* Patients (adults or their parents) affiliated to national health insurance or beneficiaries of such a system \*\* After reanalysis in the framework of the diagnostic observatory

WP3:

* Patients (children or adults) with a syndrome that corresponds to the study criteria:
* Established clinical diagnosis for one of the characteristic syndromes of the AnDDI-Rares pipeline (list may be revised in the future): Noonan syndrome, CHARGE syndrome, Kabuki syndrome, Cornelia de Lange syndrome, Rubinstein-Taybi syndrome ;
* Known gene(s) but patient's molecular diagnosis is negative.
* Patients and at least one parent agreeing to a new blood sample for genome ± RNA sequencing and/or skin biopsy for conditions where gene transcription is not satisfactory from RNA extracted from blood; or agreeing to perform these analyses from previously stored samples (recommended trio - trio may include other family members);
* Parents of legal age who are affiliated with national health insurance or who are beneficiaries of such a system;
* Signed informed consent from both biological parents and/or the index case if they are of legal age;
* Ability of both biological parents to understand correctly.

Exclusion Criteria:

WP1:

* Patients without a developmental abnormality ;
* Patients with a previously identified diagnosis at the time of consultations on the weeks drawn randomly from 2012 and 2022.

WP3:

* Unlikely clinical diagnosis ;
* Family not wishing to pursue molecular investigations;
* Index case having already benefited from the investigations through another research project.
* The parents of the index case are under court protection ;
* Families where both parental authority holders are not the biological parents

Where it's running

• Chu Dijon Bourogne
  Dijon, France Recruiting

Study contacts

• Study coordinator: Laurence OLIVIER-FAIVRE
• Email: laurence.faivre@chu-dijon.fr
• Phone: 0380295313

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.