Rare DiseasesNCT02814747
Evaluate and Understand Preferences and Representations in Families of Patients With Regard to High-throughput Sequencing Technology for Diagnostic Purposes
A study testing quantitive study: 500 patients likely to be candidates for HTS and qualitative study: 30 patients who have benefited from HTS in people with Rare Diseases, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial summary
After the use of DNA chips for diagnostic purposes, high-throughput sequencing (HTS) is transforming the field of developmental diseases, from fundamental research to care. Nonetheless, before HTS can be transferred to everyday clinical practice, in particular for expert diagnosis using exome HTS, it is necessary to… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases
- What is being tested?
- quantitive study: 500 patients likely to be candidates for HTS and qualitative study: 30 patients who have benefited from HTS
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 530 participants
- Where
- 1 siteFrance
- Study dates
- Start not givento Feb 2016
- Phase
- Interventional
- Are there results?
- None posted in the registry
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
Who may be able to join
- parents of patients with development anomaly and/or intellectual deficiency with no etiological diagnosis
- parents of patients consulting at the centres of reference in Dijon or Lyon
- parents of patients who have not already benefited from HTS
- parents of patients who are fluent in French
- NON-INCLUSION CRITERIA
- persons without national health insurance cover
Show all 16Show fewer
- inability to answer the questionnaires
- Qualitative study
- persons who have provided written informed consent
- parents of patients with a development anomaly
- parents of patients consulting at the centres of reference in Dijon or Lyon
- parents of patients who have already benefited from HTS for diagnostic purposes
- persons fluent in French
- NON-INCLUSION CRITERIA
- persons without national health insurance cover
- cognitive impairment making it impossible for the person to understand the aims of the study
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Preferences and Representations Concerning High-throughput Sequencing Technologies in Medical Genetics. The Case of Development Anomalies.
After the use of DNA chips for diagnostic purposes, high-throughput sequencing (HTS) is transforming the field of developmental diseases, from fundamental research to care. Nonetheless, before HTS can be transferred to everyday clinical practice, in particular for expert diagnosis using exome HTS, it is necessary to anticipate the nature of the information to be given to patients and to parents in order to obtain consent for exome HTS.
The objective in terms of public health is to allow patients with rare diseases to benefit from innovative technologies in optimal conditions of information and accompaniment.
Read more
the objectives of this project are to
- evaluate the preferences of families of patients with development disorders as regard to suspicious and incidental findings from HTS before its introduction for diagnostic purpose,
- and then, following the exome analyses carried out for diagnostic purposes, describe, analyse and understand the experience, expectations and reactions of families and geneticists concerning the diagnostic trajectory in general and at the time the results of the HTS were announced in particular A methodology that associated quantitative and qualitative approaches was chosen so as to combine the advantages and overcome the shortcomings of each: a quantitative study to investigate a large number of patients, which would ensure a certain representativeness of the population and allow sub-groups analyses to study the upstream phase concerning indications for high-throughput sequencing; and a qualitative study, which though it allows only a small number of patients to be investigated, makes it possible to describe, analyze and understand in depth the complex downstream phenomena of high-throughput sequencing results
- Conditions
- Rare Diseases
- Being tested
- quantitive study: 500 patients likely to be candidates for HTS, qualitative study: 30 patients who have benefited from HTS
- Medical subject headings
- Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
quantitive study: 500 patients likely to be candidates for HTSOther
qualitative study: 30 patients who have benefited from HTSOther
| Study group | Role | What they receive |
|---|---|---|
| quantitive study: 500 patients likely to be candidates for HTS | Experimental | quantitive study: 500 patients likely to be candidates for HTS at CR in Dijon and Lyon, that is to say patients with development anomalies and/or intellectual deficiency with no etiological diagnosis. Receives: Other: quantitive study: 500 patients likely to be candidates for HTS |
| qualitative study: 30 patients who have benefited from HTS and | Experimental | qualitative study: 30 patients who have benefited from HTS and the medical geneticists who accompanied them in this approach. Receives: Other: qualitative study: 30 patients who have benefited from HTS |
What is being measured
The primary outcome is the main question the study is designed to answer.
Preferences of families of patients concerning the diffusion of incidental results with uncertain interpretation from high-throughput sequencing prior to whole exome analyses
Measured: day one
Secondary outcomes (1)
Questionnaire on the experiences, expectations and reactions of families and geneticists with regard to the moment the results are announced
Measured: day one
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jun 2016 (estimated)
- Primary completionFeb 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Rare DiseasesStudies 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
- Interventional
- Phase
- Phase N/A
- Allocation
- Not applicable
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 530 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
- NCT02814747
- Sponsor's protocol ID
- OLIVIER-FAIVRE 2014
- Status last verified
- Feb 2026
- First submitted
- 16 Jun 2016
- Last updated
- 6 Feb 2026
- Results posted
- No
Publications
Chassagne A, Pelissier A, Houdayer F, Cretin E, Gautier E, Salvi D, Kidri S, Godard A, Thauvin-Robinet C, Masurel A, Lehalle D, Jean-Marcais N, Thevenon J, Lesca G, Putoux A, Cordier MP, Dupuis-Girod S, Till M, Duffourd Y, Riviere JB, Joly L, Juif C, Putois O, Ancet P, Lapointe AS, Morin P, Edery P, Rossi M, Sanlaville D, Bejean S, Peyron C, Faivre L. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study). Eur J Hum Genet. 2019 May;27(5):701-710. doi: 10.1038/s41431-018-0332-y. Epub 2019 Feb 1.
PubMed 30710147
Study at a glance
From the registry record, last updated by the sponsor on 6 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Preferences and Representations Concerning High-throughput Sequencing Technologies in Medical Genetics. The Case of Development Anomalies.
- ClinicalTrials.gov ID
- NCT02814747
- Acronym / sponsor ID
- OLIVIER-FAIVRE 2014
- Conditions
- Rare Diseases
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 530 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Primary completion
- Feb 2016 (actual)
- First posted
- 28 Jun 2016 (estimated)
- 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.
After the use of DNA chips for diagnostic purposes, high-throughput sequencing (HTS) is transforming the field of developmental diseases, from fundamental research to care. Nonetheless, before HTS can be transferred to everyday clinical practice, in particular for expert diagnosis using exome HTS, it is necessary to anticipate the nature of the information to be given to patients and to parents in order to obtain consent for exome HTS.
The objective in terms of public health is to allow patients with rare diseases to benefit from innovative technologies in optimal conditions of information and accompaniment.
the objectives of this project are to
- evaluate the preferences of families of patients with development disorders as regard to suspicious and incidental findings from HTS before its introduction for diagnostic purpose,
- and then, following the exome analyses carried out for diagnostic purposes, describe, analyse and understand the experience, expectations and reactions of families and geneticists concerning the diagnostic trajectory in general and at the time the results of the HTS were announced in particular A methodology that associated quantitative and qualitative approaches was chosen so as to combine the advantages and overcome the shortcomings of each: a quantitative study to investigate a large number of patients, which would ensure a certain representativeness of the population and allow sub-groups analyses to study the upstream phase concerning indications for high-throughput sequencing; and a qualitative study, which though it allows only a small number of patients to be investigated, makes it possible to describe, analyze and understand in depth the complex downstream phenomena of high-throughput sequencing results
Study design
- Allocation
- Not applicable
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| quantitive study: 500 patients likely to be candidates for HTS | Experimental | Other: quantitive study: 500 patients likely to be candidates for HTSquantitive study: 500 patients likely to be candidates for HTS at CR in Dijon and Lyon, that is to say patients with development anomalies and/or intellectual deficiency with no etiological diagnosis. |
| qualitative study: 30 patients who have benefited from HTS and | Experimental | Other: qualitative study: 30 patients who have benefited from HTSqualitative study: 30 patients who have benefited from HTS and the medical geneticists who accompanied them in this approach. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (16 listed)
- NON-INCLUSION CRITERIA
- Qualitative study
- NON-INCLUSION CRITERIA
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| quantitive study: 500 patients likely to be candidates for HTS | Other | quantitive study: 500 patients likely to be candidates for HTS |
| qualitative study: 30 patients who have benefited from HTS | Other | qualitative study: 30 patients who have benefited from HTS and |
Primary outcome
Preferences of families of patients concerning the diffusion of incidental results with uncertain interpretation from high-throughput sequencing prior to whole exome analyses
Time frame: day one
1 secondary outcome
Questionnaire on the experiences, expectations and reactions of families and geneticists with regard to the moment the results are announced
Time frame: day one
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Feb 2026.
- Results publication: PubMed 30710147Chassagne A, Pelissier A, Houdayer F, Cretin E, Gautier E, Salvi D, Kidri S, Godard A, Thauvin-Robinet C, Masurel A, Lehalle D, Jean-Marcais N, Thevenon J, Lesca G, Putoux A, Cordier MP, Dupuis-Girod S, Till M, Duffourd Y, Riviere JB, Joly L, Juif C, Putois O, Ancet P, Lapointe AS, Morin P, Edery P, Rossi M, Sanlaville D, Bejean S, Peyron C, Faivre L. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study). Eur J Hum Genet. 2019 May;27(5):701-710. doi: 10.1038/s41431-018-0332-y. Epub 2019 Feb 1.
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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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing quantitive study: 500 patients likely to be candidates for HTS and qualitative study: 30 patients who have benefited from HTS in people with Rare Diseases, 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 16 inclusion and 0 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: finished, as of the sponsor's last update on 6 Feb 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Preferences of families of patients concerning the diffusion of incidental results with uncertain interpretation from high-throughput sequencing prior to whole exome analyses (time frame: day one). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02814747, which also lists 1 linked publication.
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 6 Feb 2026.