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Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease.

NCT02926963 · Status: TERMINATED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 3

Last updated 2017-09-29

No results posted yet for this study

Summary

Chronic granulomatous disease (CGD) is a rare genetic disease of innate immune due to the malfunction of phagocytic cells unable to destroy pathogens during infection. The four genes implicated are CYBB, CYBA, NCFA and NCF2 respectively encoding Nox2, p22phox, p47phox and p67phox. Nox2 analogs have recently been discovered in cells other than phagocytes. So the question arises on physiopathological impact of the absence of theses proteins not only in phagocytes but also in other cells types such as fibroblasts or neurons.

The principal objective is thus to study the impact of protein deficits Nox2 and p22phox, in the pathophysiology of neurons from inducible pluripotent bone marrow cells (iPSC).

For this purpose, a collection was built of fibroblasts and keratinocytes from patients with different forms of CGD to get iPSC similar to embryonic marrow cells and differentiable into several cell types (neurons, phagocytes).

Conditions

  • Chronic Granulomatous Disease

Interventions

OTHER

samples collection : hair and skin biopsy

Sponsors & Collaborators

  • University Hospital, Grenoble

    lead OTHER

Principal Investigators

  • Dominique PLANTAZ · University Hospital, Grenoble

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
6 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-10-31
Primary Completion
2017-06-30
Completion
2017-06-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02926963 on ClinicalTrials.gov