Evaluation of the Efficacy of the Sequencing Method by Gene-panel (Génétique-DIH)
Primary Purpose
Primary Immuno-Deficiencies
Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Blood sampling
Sponsored by
About this trial
This is an interventional diagnostic trial for Primary Immuno-Deficiencies
Eligibility Criteria
Inclusion Criteria:
- Patient who need a genetic diagnosis of PID done at Necker's CEDI (Center for Immuno-Deficiencies Explorations), in the frame of an initial causal mutation identification
- Patient having signed an informed consent form (or parents for minor patients)
- Patient affiliated to National Health Care Insurance
Exclusion Criteria:
- Patient refusing to participate
- Patient under legal guardianship
- Patient that can't fulfill the study requirements, for any geographic, social or psychic reason
Sites / Locations
- Necker - Enfants Malades hospital
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
Patient with PID
Arm Description
For patient with clinical diagnosis of PID, an additional blood sampling will be taken. The genetic diagnosis will be done via the method of gene-panel in the frame of the study. A genetic confirmation will, in any case, be done via the reference method (Sanger), in order to establish a final diagnosis for these patients.
Outcomes
Primary Outcome Measures
Comparison of the 2 sequencing methods
Assess the efficacy of the identification of the genetic cause of PID, via the high throughput gene panel sequencing method, compared to the reference Sanger method, on patients with no identified mutation after analyzes done by available technics on hospital laboratories.
Secondary Outcome Measures
Full Information
NCT ID
NCT02954640
First Posted
November 2, 2016
Last Updated
March 13, 2018
Sponsor
Imagine Institute
Collaborators
Assistance Publique - Hôpitaux de Paris
1. Study Identification
Unique Protocol Identification Number
NCT02954640
Brief Title
Evaluation of the Efficacy of the Sequencing Method by Gene-panel
Acronym
Génétique-DIH
Official Title
Evaluation of the Efficacy of the Sequencing Method by Gene-panel, Compared to the Reference Sanger Method, on Patients With Primary Immuno-deficiencies, and Who Need a Genetic Diagnosis.
Study Type
Interventional
2. Study Status
Record Verification Date
March 2018
Overall Recruitment Status
Completed
Study Start Date
February 2016 (undefined)
Primary Completion Date
September 8, 2017 (Actual)
Study Completion Date
September 8, 2017 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Imagine Institute
Collaborators
Assistance Publique - Hôpitaux de Paris
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief Summary
In order to accelerate the identification of genes responsibles of PID, and to improve the diagnosis of PID, the research team would like to validate a rapid and targeted method of high-throughput sequencing, on 301 genes, known to be involved in PID.
Detailed Description
The Primary Immuno-Deficiencies (PID) are a set of rare diseases (estimated incidence of 1/5000). Today, more than 320 PID are described, and for 301 of them, the genetic cause has been identified, which underlines the huge diversity of all PID.
The genetic diagnosis of PID is very important for the comprehension of PID physiopathology, their treatment and the genetic patient information.
The characterisation of the clinical and immunological phenotype of patients allowed to identify a known morbid gene in 30% of cases, but for other patients, the genetic cause remains unknown, due to, inter alia, the lack of efficient tools for genetic exploration.
In this context, each year, around 600 French and foreign patients are explored at the Necker hospital CEDI (Center for Immuno-Deficiencies Explorations), for whom are identified, in 30% of cases, a known genetic cause.
Their treatment and the diagnosis of these patients is slow, partially because these studies are dependants of research fundings. In addition, in the current practice, the investigators sometimes discover incidental findings via the non-targeted high throughput genetic analyzes.
The aim of the gene-panel is to improve the diagnosis procedures of these known diseases, by generalizing a rapid and targeted method of sequencing, on 301 genes, known to be involved in PID.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Primary Immuno-Deficiencies
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
115 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Patient with PID
Arm Type
Other
Arm Description
For patient with clinical diagnosis of PID, an additional blood sampling will be taken.
The genetic diagnosis will be done via the method of gene-panel in the frame of the study.
A genetic confirmation will, in any case, be done via the reference method (Sanger), in order to establish a final diagnosis for these patients.
Intervention Type
Biological
Intervention Name(s)
Blood sampling
Intervention Description
Additional blood sampling for the realization of the test on the gene panel
Primary Outcome Measure Information:
Title
Comparison of the 2 sequencing methods
Description
Assess the efficacy of the identification of the genetic cause of PID, via the high throughput gene panel sequencing method, compared to the reference Sanger method, on patients with no identified mutation after analyzes done by available technics on hospital laboratories.
Time Frame
2 years
10. Eligibility
Sex
All
Maximum Age & Unit of Time
70 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Patient who need a genetic diagnosis of PID done at Necker's CEDI (Center for Immuno-Deficiencies Explorations), in the frame of an initial causal mutation identification
Patient having signed an informed consent form (or parents for minor patients)
Patient affiliated to National Health Care Insurance
Exclusion Criteria:
Patient refusing to participate
Patient under legal guardianship
Patient that can't fulfill the study requirements, for any geographic, social or psychic reason
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Alain Fischer
Organizational Affiliation
Imagine Institute
Official's Role
Study Chair
First Name & Middle Initial & Last Name & Degree
Alexandre Alcais
Organizational Affiliation
Imagine Institute
Official's Role
Study Chair
Facility Information:
Facility Name
Necker - Enfants Malades hospital
City
Paris
ZIP/Postal Code
75015
Country
France
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
Evaluation of the Efficacy of the Sequencing Method by Gene-panel
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