Developmental AbnormalityObs du DiagNCT05448326
The Diagnostic Observatory: Combating Diagnostic Wandering and Impasse Within the AnDDI-Rares Network
An observational study of Developmental Abnormality, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Developmental Abnormality
- What is being tested?
- Questionnaire to assess expectations of a diagnosis, Questionnaire to assess understanding of previously reported results and expectations of a diagnosis and Blood sample +/- skin biopsy
- How many people
- 1,280 participants
- Where
- 1 siteFrance
- Study dates
- 28 Mar 2022to Mar 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients in a situation of diagnostic wandering or impasse
Who may be able to join
- 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) :
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- 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.
Who cannot join
- 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;
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- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Chu Dijon Bourogne
Dijon, 21000
Laurence OLIVIER-FAIVRE, 0380295313, laurence.faivre@chu-dijon.fr
About this study
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.
Read more
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
- Being tested
- Questionnaire to assess expectations of a diagnosis, Questionnaire to assess understanding of previously reported results and expectations of a diagnosis, Blood sample +/- skin biopsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Questionnaire to assess expectations of a diagnosisOther
Duration 45 minutes
Questionnaire to assess understanding of previously reported results and expectations of a diagnosisOther
Duration 30 minutes
Blood sample +/- skin biopsyBiological
8 ml of blood biopsy: size 3 to 5 mm
| Study group | Role | What they receive |
|---|---|---|
| Work package 1 (WP1) | Patients without a diagnosis who consulted for a developmental anomaly in 2012 and 2022 and agree to resume a diagnostic approach Receives: Other: Questionnaire to assess expectations of a diagnosis | |
| Work package 2 (WP2) | Part 1 (Lab): Patients with developmental abnormalities with or without neurodevelopmental disorders who have had a CNV (Copy Number Variation) rendering that remained of unknown significance or classified as (probably) benign Part 2 (Clinical part): Patients who agree to resume the diagnostic process following a CNV report of unknown significance or classified as (probably) benign Receives: Other: Questionnaire to assess understanding of previously reported results and expectations of a diagnosis | |
| Work package 3 (WP3) | Patients with an established clinical diagnosis belonging to the characteristic syndromes of the AnDDI-Rares network (known gene(s) but negative molecular diagnosis) Receives: Biological: Blood sample +/- skin biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Consultations leading to a causal genetic diagnosis in 2012 and 2022
Measured: through study completion, an average of 24 months
CNVs reclassified as pathogenic/probably pathogenic or benign/probably benign.
Measured: through study completion, an average of 24 months
Molecular diagnosis identified by sequencing of the genome ± associated RNA.
Measured: through study completion, an average of 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jul 2022
- Study start28 Mar 2022
- Primary completionMar 2029 (estimated)
- Study completionMar 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Developmental AbnormalityStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire DijonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,280 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire Dijon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05448326
- Sponsor's protocol ID
- OLIVIER-FAIVRE 2021
- Acronym
- Obs du Diag
- Status last verified
- Jun 2026
- First submitted
- 1 Jun 2022
- Last updated
- 17 Jun 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Diagnostic Observatory: Combating Diagnostic Wandering and Impasse Within the AnDDI-Rares Network
- ClinicalTrials.gov ID
- NCT05448326
- Acronym / sponsor ID
- Obs du Diag / OLIVIER-FAIVRE 2021
- Conditions
- Developmental Abnormality
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,280 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- 28 Mar 2022 (actual)
- Primary completion
- Mar 2029 (estimated)
- Study completion
- Mar 2029 (estimated)
- First posted
- 7 Jul 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Work package 1 (WP1) | – | Other: Questionnaire to assess expectations of a diagnosisPatients without a diagnosis who consulted for a developmental anomaly in 2012 and 2022 and agree to resume a diagnostic approach |
| Work package 2 (WP2) | – | Other: Questionnaire to assess understanding of previously reported results and expectations of a diagnosisPart 1 (Lab): Patients with developmental abnormalities with or without neurodevelopmental disorders who have had a CNV (Copy Number Variation) rendering that remained of unknown significance or classified as (probably) benign Part 2 (Clinical part): Patients who agree to resume the diagnostic process following a CNV report of unknown significance or classified as (probably) benign |
| Work package 3 (WP3) | – | Biological: Blood sample +/- skin biopsyPatients with an established clinical diagnosis belonging to the characteristic syndromes of the AnDDI-Rares network (known gene(s) but negative molecular diagnosis) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients in a situation of diagnostic wandering or impasse
Key inclusion criteria (21 listed)
- 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
- 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
Key exclusion criteria (9 listed)
- 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.
- Unlikely clinical diagnosis ;
- Family not wishing to pursue molecular investigations;
- Index case having already benefited from the investigations through another research project.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Questionnaire to assess expectations of a diagnosisDuration 45 minutes | Other | Work package 1 (WP1) |
| Questionnaire to assess understanding of previously reported results and expectations of a diagnosisDuration 30 minutes | Other | Work package 2 (WP2) |
| Blood sample +/- skin biopsy8 ml of blood biopsy: size 3 to 5 mm | Biological | Work package 3 (WP3) |
Primary outcome
Consultations leading to a causal genetic diagnosis in 2012 and 2022
Time frame: through study completion, an average of 24 months
CNVs reclassified as pathogenic/probably pathogenic or benign/probably benign.
Time frame: through study completion, an average of 24 months
Molecular diagnosis identified by sequencing of the genome ± associated RNA.
Time frame: through study completion, an average of 36 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Jun 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Developmental Abnormality, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 21 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 17 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Laurence OLIVIER-FAIVRE (0380295313, laurence.faivre@chu-dijon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Consultations leading to a causal genetic diagnosis in 2012 and 2022 (time frame: through study completion, an average of 24 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Jun 2026.