HoloprosencephalyEXOMEDIANENCT04691414
Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.
An observational study of Holoprosencephaly, run by Rennes University Hospital at 1 site in France.
Trial summary
Holoprosencephaly, or HPE, is the most common congenital cerebral malformation in humans and the most severe of a group of pathologies related to a deficiency of the SHH signalling pathway (Sonic Hedgehog SHH-D). It is characterized by severe cerebral and craniofacial abnormalities. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Holoprosencephaly
- What is being tested?
- NGS
- How many people
- 33 participants
- Where
- 1 siteFrance
- Study dates
- 10 Feb 2021to 6 Dec 2021
- Phase
- Observational
- 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
Study population: 17 Trios : 17 patient with Craniofacial Midline Facial Anomalies and both parents already diagnosed in routine care. Blood samples for all trio must be available in the biobank and parents and patient if he's not a minor have to accept genetic analyses.
Who may be able to join
- Patients with Craniofacial Midline Facial Anomalies (CMFLA) collected for genetic analysis
- Patients and relatives for whom consent for research-related genetic testing is available. A "trio" - patient and both parents is required for analysis of variant segregation and determination of mode of transmission.
- For patients who are minors, parental authority(ies) who have given consent for research genetic testing.
- Affiliation to a social security scheme
- Patient and parents do not object to their participation in the research.
- In the case of a patient who has reached the age of majority since the initial consent was obtained, a patient who has given consent to proceed with genetic analyses for research purposes.
Who cannot join
- adults subject to legal protection (safeguard of justice, curatorship, guardianship), persons deprived of liberty.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: EXOMEDIANE - Retrospective Study Using High Throughput Sequencing (HTS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.
Holoprosencephaly, or HPE, is the most common congenital cerebral malformation in humans and the most severe of a group of pathologies related to a deficiency of the SHH signalling pathway (Sonic Hedgehog SHH-D). It is characterized by severe cerebral and craniofacial abnormalities.
The regulation of SHH concentration is therefore crucial for correct craniofacial development.
Read more
Despite the recent identification of about 20 genes, 70% of cases of EHPE and craniofacial midline abnormalities of genetic origin do not have a molecular diagnosis. It is therefore important to continue the search for new candidate genes to improve the understanding of brain and facial development and to improve genetic counseling for these families.
The development of Next-Generation Sequencing (NGS) technologies opens up the possibility of studying the exome or even the genome in a single manipulation. The latter type of analysis is particularly well suited to the discovery of new genes and will therefore improve the care of patients and their families.
- Conditions
- Holoprosencephaly
- Being tested
- NGS
- Medical subject headings
- Holoprosencephaly
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NGSGenetic
next-generation sequencing on preexisting samples
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients with an identified genetic abnormality
Number of patients with an identified genetic abnormality
Measured: 6 months
Secondary outcomes (3)
Number of new genes identified
Number of new genes identified, and possible recurrence of variants in one or more new genes of interest.
Measured: 6 months
Pathogenic variants
Percentage of pathogenic variants identified in genes of the SHH pathway
Measured: 6 months
Modes of transmission of pathogenic variants
Percentage of variants identified according to the different modes of transmission (de novo, autosomal dominant, X-linked, autosomal recessive, oligogenism)
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Dec 2020
- Study start10 Feb 2021
- Primary completion1 Dec 2021
- Study completion6 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HoloprosencephalyStudies of the same condition, open and under way.
- 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
- Retrospective
- Enrolment
- 33 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rennes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Alinoë LAVILLAUREIX, Principal investigator, Rennes University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04691414
- Sponsor's protocol ID
- 35RC20_8894_EXOMEDIANE
- Acronym
- EXOMEDIANE
- Status last verified
- Dec 2021
- First submitted
- 28 Dec 2020
- Last updated
- 7 Dec 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Dec 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- EXOMEDIANE - Retrospective Study Using High Throughput Sequencing (HTS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.
- ClinicalTrials.gov ID
- NCT04691414
- Acronym / sponsor ID
- EXOMEDIANE / 35RC20_8894_EXOMEDIANE
- Conditions
- Holoprosencephaly
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 33 participants (actual)
- Lead sponsor
- Rennes University HospitalUniversity, hospital or other
- Study start
- 10 Feb 2021 (actual)
- Primary completion
- 1 Dec 2021 (actual)
- Study completion
- 6 Dec 2021 (actual)
- First posted
- 31 Dec 2020 (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.
Holoprosencephaly, or HPE, is the most common congenital cerebral malformation in humans and the most severe of a group of pathologies related to a deficiency of the SHH signalling pathway (Sonic Hedgehog SHH-D). It is characterized by severe cerebral and craniofacial abnormalities.
The regulation of SHH concentration is therefore crucial for correct craniofacial development.
Despite the recent identification of about 20 genes, 70% of cases of EHPE and craniofacial midline abnormalities of genetic origin do not have a molecular diagnosis. It is therefore important to continue the search for new candidate genes to improve the understanding of brain and facial development and to improve genetic counseling for these families.
The development of Next-Generation Sequencing (NGS) technologies opens up the possibility of studying the exome or even the genome in a single manipulation. The latter type of analysis is particularly well suited to the discovery of new genes and will therefore improve the care of patients and their families.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 17 Trios : 17 patient with Craniofacial Midline Facial Anomalies and both parents already diagnosed in routine care. Blood samples for all trio must be available in the biobank and parents and patient if he's not a minor have to accept genetic analyses.
Key inclusion criteria (6 listed)
- Patients with Craniofacial Midline Facial Anomalies (CMFLA) collected for genetic analysis
- Patients and relatives for whom consent for research-related genetic testing is available. A "trio" - patient and both parents is required for analysis of variant segregation and determination of mode of transmission.
- For patients who are minors, parental authority(ies) who have given consent for research genetic testing.
- Affiliation to a social security scheme
- Patient and parents do not object to their participation in the research.
Key exclusion criteria (1 listed)
- adults subject to legal protection (safeguard of justice, curatorship, guardianship), persons deprived of liberty.
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 |
|---|---|---|
| NGSnext-generation sequencing on preexisting samples | Genetic | – |
Primary outcome
Number of patients with an identified genetic abnormality
Time frame: 6 months
Number of patients with an identified genetic abnormality
3 secondary outcomes
Number of new genes identified
Time frame: 6 months
Pathogenic variants
Time frame: 6 months
Modes of transmission of pathogenic variants
Time frame: 6 months
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 7 Dec 2021.
- Individual participant dataSharing planned: No
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.
Alinoë LAVILLAUREIX principal investigator
Rennes University Hospital
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 Holoprosencephaly, run by Rennes University Hospital 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 6 inclusion and 1 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 7 Dec 2021. 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?
Number of patients with an identified genetic abnormality (time frame: 6 months). 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 7 Dec 2021; AzTrials last refreshed its copy on 28 Oct 2026.