Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995

This study is a longitudinal and cross-sectional evaluation of patients with Chronic Granulomatous Disease (CGD) who received or are receiving hematopoietic cell transplantation (HCT) for their disease under a variety of protocols used by participating institutions compared to a control non-HCT group receiving standard care. Investigators at multiple centers caring for patients with CGD in North America and 3 centers in Europe will participate. Patients with CGD will have been treated according to institutional practice and protocols. Investigators will enroll these patients as subjects in this protocol. This study will investigate which patients benefit most from HCT, and what types of transplants are optimal for patients with CGD, in the context of overall outcomes in CGD patients with and without transplant.

Study Overview

• Status: Completed
• Conditions: Chronic Granulomatous Disease

Detailed Description

This study is a longitudinal and cross-sectional evaluation of patients with Chronic Granulomatous Disease (CGD) who received or are receiving hematopoietic cell transplantation (HCT) for their disease under a variety of protocols used by participating institutions compared to a control non-HCT group receiving standard care. Investigators at multiple centers caring for patients with CGD in North America and 3 centers in Europe will participate. Patients with CGD will have been treated according to institutional practice and protocols. Investigators will enroll these patients as subjects in this protocol. This study will investigate which patients benefit most from HCT, and what types of transplants are optimal for patients with CGD, in the context of overall outcomes in CGD patients with and without transplant.

• Study Type: Observational
• Enrollment (Actual): 137

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health Clinical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients diagnosed with CGD that will be or already Transplanted@@@@@@

Description

• Both HCT and non-HCT subjects must be over the age of 2 and actively enrolled and receiving treatment under a CGD protocol at NIAID.

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort
Cross Sectional; 3 years after Transplant
No Transplant; These patients were diagnosed with CGD but have not been transplanted
Prospective; Prior to Transplant Conditioning
Retrospective; 1 year after Transplant

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The primary objective of this protocol is to estimate the 1- year, 2-year and 3-year (and longer if possible) overall survival probabilities post-HCT of CGD subjects born on or after 1988 who receive HCTon or after 1995.	Clinical outcomes (survival, infection, autoimmune disease, chimerism, GVHD)	1, 2 or 3 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To compare overall survival from birth between patients born on or after 1988 who receive HCT on or after 1995 vs. those born on or after 1988 who receive conventional therapy, after adjusting for differences in year of birth and oxidase acti...	Clinical outcomes (survival, infection, autoimmune disease, chimerism, GVHD)	3 years post Transplant or Non Transplant

Collaborators and Investigators

• Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)
• Investigators: Principal Investigator: Elizabeth M Kang, M.D., National Institute of Allergy and Infectious Diseases (NIAID)

Publications and helpful links

General Publications

• Kuhns DB, Alvord WG, Heller T, Feld JJ, Pike KM, Marciano BE, Uzel G, DeRavin SS, Priel DA, Soule BP, Zarember KA, Malech HL, Holland SM, Gallin JI. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010 Dec 30;363(27):2600-10. doi: 10.1056/NEJMoa1007097.
• Kobayashi S, Murayama S, Takanashi S, Takahashi K, Miyatsuka S, Fujita T, Ichinohe S, Koike Y, Kohagizawa T, Mori H, Deguchi Y, Higuchi K, Wakasugi H, Sato T, Wada Y, Nagata M, Okabe N, Tatsuzawa O. Clinical features and prognoses of 23 patients with chronic granulomatous disease followed for 21 years by a single hospital in Japan. Eur J Pediatr. 2008 Dec;167(12):1389-94. doi: 10.1007/s00431-008-0680-7. Epub 2008 Mar 12.
• Gallin JI, Alling DW, Malech HL, Wesley R, Koziol D, Marciano B, Eisenstein EM, Turner ML, DeCarlo ES, Starling JM, Holland SM. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med. 2003 Jun 12;348(24):2416-22. doi: 10.1056/NEJMoa021931.

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): June 11, 2014
• Primary Completion (Actual): June 2, 2022
• Study Completion (Actual): June 2, 2022

Study Registration Dates

• First Submitted: April 15, 2014
• First Submitted That Met QC Criteria: April 15, 2014
• First Posted (Estimated): April 17, 2014

Study Record Updates

• Last Update Posted (Actual): March 28, 2024
• Last Update Submitted That Met QC Criteria: March 27, 2024
• Last Verified: March 26, 2024

More Information

Terms related to this study

• Keywords: Natural History; Rare Diseases; Retrospective; Primary Immune Deficiency Treatment Consortium
• Additional Relevant MeSH Terms: Pathologic Processes; Immunologic Deficiency Syndromes; Immune System Diseases; Lymphoproliferative Disorders; Lymphatic Diseases; Disease Attributes; Hematologic Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Leukocyte Disorders; Phagocyte Bactericidal Dysfunction; Chronic Disease; Granuloma; Granulomatous Disease, Chronic
• Other Study ID Numbers: 140091; 14-I-0091

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No