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

NCT02954640 | Completed

• 1 other identifier: IMIS2015-02
• Study Type: interventional
• Target: 115
• Locations: 1 country
• Sites: 1

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.

Conditions

Primary Immuno-Deficiencies

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

Patient with PID

OTHER

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

Interventions

Blood sampling BIOLOGICAL

Additional blood sampling for the realization of the test on the gene panel

Patient with PID

Eligibility Criteria

• Age: Up to 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• Patient refusing to participate
• Patient under legal guardianship
• Patient that can't fulfill the study requirements, for any geographic, social or psychic reason

Sponsors & Collaborators

• Imagine Institute: lead
• Assistance Publique - Hôpitaux de Paris: collaborator

Study Sites (1)

Necker - Enfants Malades hospital

Paris, 75015, France

Location

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Alain Fischer

  Imagine Institute

  STUDY CHAIR

• Alexandre Alcais

  Imagine Institute

  STUDY CHAIR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 2, 2016
• First Posted: November 3, 2016
• Study Start: February 1, 2016
• Primary Completion: September 8, 2017
• Study Completion: September 8, 2017
• Last Updated: March 15, 2018

Record last verified: 2018-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)