Evaluation of the Efficacy of the Sequencing Method by Gene-panel

Primary Immuno-Deficiencies Clinical Trial

— 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.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02954640
• Other study ID #: IMIS2015-02
• Status: Completed
• Phase: N/A
• First received: November 2, 2016
• Last updated: March 13, 2018
• Start date: February 2016
• Est. completion date: September 8, 2017

Study information

• Verified date: March 2018
• Source: Imagine Institute
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 115
• Est. completion date: September 8, 2017
• Est. primary completion date: September 8, 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 70 Years

Eligibility

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

Related Conditions & MeSH terms

• Immunologic Deficiency Syndromes
• Primary Immuno-Deficiencies

Intervention

Biological:
• Blood sampling
Additional blood sampling for the realization of the test on the gene panel

Locations

Country	Name	City	State
France	Necker - Enfants Malades hospital	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Imagine Institute	Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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