Retrospective Study Using Next Generation Sequencing (NGS... | NCT04691414

Status Module

Record Verification Date

Dec 2021

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 10, 2021Actual

Primary Completion Date

Dec 1, 2021Actual

Completion Date

Dec 6, 2021Actual

First Submitted Date

Dec 28, 2020

First Submission Date that Met QC Criteria

Dec 30, 2020

First Posted Date

Dec 31, 2020Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Dec 6, 2021

Last Update Posted Date

Dec 7, 2021Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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.

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

33Actual

Name	Type	Description	Arm Group Labels	Other Names
NGS	Genetic	next-generation sequencing on preexisting samples

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Number of patients with an identified genetic abnormality	Number of patients with an identified genetic abnormality	6 months

Secondary Outcomes

Measure	Description	Time Frame
Number of new genes identified	Number of new genes identified, and possible recurrence of variants in one or more new genes of interest.	6 months
Pathogenic variants	Percentage of pathogenic variants identified in genes of the SHH pathway

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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.

Exclusion Criteria:

adults subject to legal protection (safeguard of justice, curatorship, guardianship), persons deprived of liberty.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder 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.

Sampling Method

Non-Probability Sample

Name	Affiliation	Role
Alinoë LAVILLAUREIX	Rennes University Hospital	Principal Investigator

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

ID	Term
D016142	Holoprosencephaly

Ancestor Terms

ID	Term
D019465	Craniofacial Abnormalities
D009139	Musculoskeletal Abnormalities
D009140	Musculoskeletal Diseases
D061085	Agenesis of Corpus Callosum
D009421	Nervous System Malformations
D009422	Nervous System Diseases
D000015	Abnormalities, Multiple
D000013	Congenital Abnormalities
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D025063	Chromosome Disorders
D030342	Genetic Diseases, Inborn