Protocol Details
Analysis of Autoinflammation in Chronic Granulomatous Disease Patients Undergoing Hematopoietic Cell Transplant or Gene Therapy RDCRN - PIDTC 6908
This study is currently recruiting participants.
Summary
Number |
001716-I |
Sponsoring Institute |
National Institute of Allergy and Infectious Diseases (NIAID) |
Recruitment Detail |
Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 4 Years
Max Age: 65 Years |
Referral Letter Required |
Yes |
Population Exclusion(s) |
Fetuses;
Pregnant Women |
Keywords |
Chronic Granulomatous Disease (CGD);
Hematopoietic Cell Transplantation (HCT);
Gene Therapy;
CGD Autoinflammation |
Recruitment Keyword(s) |
None |
Condition(s) |
Chronic Granulomatous Disease (CGD);
Hematopoietic Cell Transplantation (HCT);
CGD Autoinflammation;
Gene Therapy |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Institute of Allergy and Infectious Diseases |
Background:
Chronic granulomatous disease (CGD) is a rare disease that affects the immune system. People with CGD can develop many types of life threatening infections and inflammation. There are different forms of CGD. In this natural history study, researchers want to collect data on people with CGD who are treated with either a bone marrow transplant or receive gene therapy over time. Their goal is to find better ways to prevent or treat immune-related issues in people with GCD
Objective:
To collect data from people with CGD.
Eligibility:
People aged 7 years and older with CGD who will have a bone marrow transplant or undergo gene therapy.
Design:
Participants will be screened; they will have a physical exam. They may opt to answer questions about topics including their medications; medical test results; past and future treatments, education, zip code, and income; and quality of life. Adults may be asked about substance use.
As participants undergo their transplant or gene therapy, information collected for the study will continue to be updated for at least 5 years.
Participants may also opt to provide blood and stool samples up to 10 times after enrolling in the study.
Eligibility
INCLUSION CRITERIA:
There will be three (3) Cohorts:
-Cohort 1 will consist of confirmed CGD, planned to undergo HCT or GT within the coming year.
-Cohort 2 will consist of confirmed CGD previously enrolled on PIDTC Protocol #6903 prospective arm, and having undergone HCT or GT.
-Cohort 3 will consist of confirmed CGD not previously enrolled on PIDTC Protocols #6903, and having undergone HCT or GT.
EXCLUSION CRITERIA:
Patients with other primary immunodeficiency diseases who do not meet the strict entry criteria or patients with secondary immunodeficiency will be excluded from this study.
Citations:
Thomas DC, Charbonnier LM, Schejtman A, Aldhekri H, Coomber EL, Dufficy ER, Beenken AE, Lee JC, Clare S, Speak AO, Thrasher AJ, Santilli G, Al-Mousa H, Alkuraya FS, Chatila TA, Smith KGC. EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease. J Allergy Clin Immunol. 2019 Feb;143(2):782-785.e1. doi: 10.1016/j.jaci.2018.09.019. Epub 2018 Oct 9. PMID: 30312704; PMCID: PMC6490677.
Arnold DE, Seif AE, Jyonouchi S, Sullivan KE, Bunin NJ, Heimall JR. Allogeneic hematopoietic stem cell transplantation in adolescent patients with chronic granulomatous disease. J Allergy Clin Immunol Pract. 2019 Mar;7(3):1052-1054.e2. doi: 10.1016/j.jaip.2018.10.034. Epub 2018 Nov 2. PMID: 30391552.
Contacts: