Development DisordersFINDNCT03288727
Secondary Findings From High-throughput Sequencing: How to Announce Them With Respect to the Patient's Needs
A study testing interviews with a psychologist in people with Development Disorders, run by Centre Hospitalier Universitaire Dijon at 3 sites in France.
Trial summary
High-throughput whole-genome sequencing (WGS) is bringing new opportunities in the diagnosis of rare diseases. It will more frequently lead to a primary diagnosis (aim of the genetic consultation), but it may also lead to the discovery of mutations not related to the patient's disease. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Development Disorders
- What is being tested?
- interviews with a psychologist
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 342 participants
- Where
- 3 sitesFrance
- Study dates
- 13 Nov 2017to 24 Nov 2021
- 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
- Adults or parents of of deceased foetuses/children (alive or deceased) or adults living under guardianship or deceased, with Development Disorders(DD) who will undergo WES for the first time for diagnostic purposes
- Consent to take part in the study
- Desire to screen for at least one group of IF
- Able to speak fluent French.
Who cannot join
- Patients withough national health insurance cover
- Absence of consent from the patient or his/her legal representative
Trial locations and contacts
3 sites in 1 country.
France3 sites
CHU Dijon Bourgogne
Dijon, 21079
Hospices Civils de Lyon
Lyon, 69000
Groupe Hospitalier Pitié-Salpêtrière
Paris, 75013
About this study
Official title: Incidental Findings Produced by Diagnostic HTS: From the Needs of Patients to Organisational Considerations
High-throughput whole-genome sequencing (WGS) is bringing new opportunities in the diagnosis of rare diseases. It will more frequently lead to a primary diagnosis (aim of the genetic consultation), but it may also lead to the discovery of mutations not related to the patient's disease. These findings are called "incidental findings" (IF) and may give rise to preventive or curative interventions in a personalised medicine approach.
The question of proposing to patients access to all or part of these findings is a matter of debate in France and elsewhere. This question has given rise to new challenges and new needs that professionals must respond to by implementing appropriate management and new skills. It raises specific ethical issues, which require precise understanding of the expectations and experiences of patients. Patients' diagnostic trajectories must also meet criteria for efficacy and financial and organisational sustainability for the healthcare establishments and, for the healthcare system. Our project aims to assess the expectations of patients/parents with regard to this opportunity, and to determine how information should be provided to patients and how they should be accompanied to ensure efficient and appropriate management.
- Conditions
- Development Disorders
- Being tested
- interviews with a psychologist
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
interviews with a psychologistOther
an interview with a psychologist / sociologist will take place after completion of the on-site questionnaires to find out the reasons for their choice of accessing their secondary data and their experiences with the secondary data reported.
| Study group | Role | What they receive |
|---|---|---|
| Negative IF result | Experimental | Not described Receives: Other: interviews with a psychologist |
| Positive IF result | Experimental | Not described Receives: Other: interviews with a psychologist |
What is being measured
The primary outcome is the main question the study is designed to answer.
Questionnaires on the expectations of patients/parents with regard to incidental findings (IF)
Measured: first day of the study
1) Questionnaires on their experience following the disclosure of IF (positive and negative), and their perception, needs and expectations with regard to the way the results are given.
Measured: at 6 months after the inclusion
2) Questionnaires on the repercussions of access to IF, in terms of experience/ appropriation of the results, needs and expectations in terms of accompaniment following disclosure of the results, and the recourse to care.
Measured: at 12 months after the inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Sep 2017
- Study start13 Nov 2017
- Primary completion24 Nov 2021
- Study completion24 Nov 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Development DisordersStudies 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
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 342 participants (actual)
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
- NCT03288727
- Sponsor's protocol ID
- OLIVIER-FAIVRE PREPS 2016
- Acronym
- FIND
- Status last verified
- Sep 2022
- First submitted
- 18 Sep 2017
- Last updated
- 14 Sep 2022
- 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 14 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Incidental Findings Produced by Diagnostic HTS: From the Needs of Patients to Organisational Considerations
- ClinicalTrials.gov ID
- NCT03288727
- Acronym / sponsor ID
- FIND / OLIVIER-FAIVRE PREPS 2016
- Conditions
- Development Disorders
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 342 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- 13 Nov 2017 (actual)
- Primary completion
- 24 Nov 2021 (actual)
- Study completion
- 24 Nov 2021 (actual)
- First posted
- 20 Sep 2017 (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.
High-throughput whole-genome sequencing (WGS) is bringing new opportunities in the diagnosis of rare diseases. It will more frequently lead to a primary diagnosis (aim of the genetic consultation), but it may also lead to the discovery of mutations not related to the patient's disease. These findings are called "incidental findings" (IF) and may give rise to preventive or curative interventions in a personalised medicine approach.
The question of proposing to patients access to all or part of these findings is a matter of debate in France and elsewhere. This question has given rise to new challenges and new needs that professionals must respond to by implementing appropriate management and new skills. It raises specific ethical issues, which require precise understanding of the expectations and experiences of patients. Patients' diagnostic trajectories must also meet criteria for efficacy and financial and organisational sustainability for the healthcare establishments and, for the healthcare system. Our project aims to assess the expectations of patients/parents with regard to this opportunity, and to determine how information should be provided to patients and how they should be accompanied to ensure efficient and appropriate management.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Negative IF result | Experimental | Other: interviews with a psychologist |
| Positive IF result | Experimental | Other: interviews with a psychologist |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Adults or parents of of deceased foetuses/children (alive or deceased) or adults living under guardianship or deceased, with Development Disorders(DD) who will undergo WES for the first time for diagnostic purposes
- Consent to take part in the study
- Desire to screen for at least one group of IF
- Able to speak fluent French.
Key exclusion criteria (2 listed)
- Patients withough national health insurance cover
- Absence of consent from the patient or his/her legal representative
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 |
|---|---|---|
| interviews with a psychologistan interview with a psychologist / sociologist will take place after completion of the on-site questionnaires to find out the reasons for their choice of accessing their secondary data and their experiences with the secondary data reported. | Other | Negative IF result, Positive IF result |
Primary outcome
Questionnaires on the expectations of patients/parents with regard to incidental findings (IF)
Time frame: first day of the study
1) Questionnaires on their experience following the disclosure of IF (positive and negative), and their perception, needs and expectations with regard to the way the results are given.
Time frame: at 6 months after the inclusion
2) Questionnaires on the repercussions of access to IF, in terms of experience/ appropriation of the results, needs and expectations in terms of accompaniment following disclosure of the results, and the recourse to care.
Time frame: at 12 months after the inclusion
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 14 Sep 2022.
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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.
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing interviews with a psychologist in people with Development Disorders, run by Centre Hospitalier Universitaire Dijon at 3 sites 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 4 inclusion and 2 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 14 Sep 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites 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?
Questionnaires on the expectations of patients/parents with regard to incidental findings (IF) (time frame: first day of the study). 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 14 Sep 2022.