Evaluation of the Efficacy of the Sequencing Method by Gene-panel (Génétique-DIH)

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.

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.

Study Overview

• Status: Completed
• Conditions: Primary Immuno-Deficiencies
• Intervention / Treatment: Biological: Blood sampling

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.

• Study Type: Interventional
• Enrollment (Actual): 115
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75015
    • Necker - Enfants Malades Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 70 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Patient with PID; 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.	Biological: Blood sampling; Additional blood sampling for the realization of the test on the gene panel

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	2 years

Collaborators and Investigators

• Sponsor: Imagine Institute
• Collaborators: Assistance Publique - Hôpitaux de Paris
• Investigators: Study Chair: Alexandre Alcais, Imagine Institute

Study record dates

Study Major Dates

• Study Start: February 1, 2016
• Primary Completion (Actual): September 8, 2017
• Study Completion (Actual): September 8, 2017

Study Registration Dates

• First Submitted: November 2, 2016
• First Submitted That Met QC Criteria: November 2, 2016
• First Posted (Estimate): November 3, 2016

Study Record Updates

• Last Update Posted (Actual): March 15, 2018
• Last Update Submitted That Met QC Criteria: March 13, 2018
• Last Verified: March 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Immune System Diseases; Genetic Diseases, Inborn; Immunologic Deficiency Syndromes; Primary Immunodeficiency Diseases
• Other Study ID Numbers: IMIS2015-02

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No