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High Dose Peripheral Blood Stem Cell Transplantation With Post Transplant Cyclophosphamide for Patients With Chronic Granulomatous Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02629120
Recruitment Status : Recruiting
First Posted : December 14, 2015
Last Update Posted : April 2, 2020
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )

Brief Summary:
Chronic granulomatous disease (CGD) affects white blood cell function. Currently, the only curative treatment is bone marrow transplant to replace the abnormal stem cells with new ones (donor cells) capable of making a normal immune system. Transplant problems include graft versus host disease (GvHD) and graft rejection. With GvHD, donor cells attack the recipient s normal tissue. Researchers want to use preparation drugs and a high cell dose to increase graft success. They want to use 2 immunosuppressive drugs (cyclophosphamide and sirolimus) to lessen the risk of GvHD.

Condition or disease Intervention/treatment Phase
Chronic Granulomatous Disease Transplant Drug: Campath Drug: Busulfan IV Drug: Sirolimus Drug: cyclophosphamide Phase 1 Phase 2

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 50 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: High Dose Peripheral Blood Stem Cell Transplantation With Post Transplant Cyclophosphamide for Patients With Chronic Granulomatous Disease
Actual Study Start Date : December 17, 2015
Estimated Primary Completion Date : December 31, 2025
Estimated Study Completion Date : December 31, 2025

Arm Intervention/treatment
Active Comparator: 1
There is only one treatment arm for this study
Drug: Campath
a humanized monoclonal antibody directed against CD52 (which is abundantly expressed on all human lymphocytes), and causes T cell activation in vitro as well as complementmediated lysis and antibodydependent cellular toxicity. for this study, being used as part of the conditioning regimen. Given IV (dose escalation) over 5 days per package insert and and standard of practice

Drug: Busulfan IV
an alkylating chemotherapeutic agent determined to have broad myelosuppressive effects. On this study is being used as part of the conditioning regimen for its myelosuppressive properties. Given IV over 2 or 3 days depending on donor cells (sibling vs. unrelated donors) per package insert and standard of practice

Drug: Sirolimus
Drug: cyclophosphamide
Cyclophosphamide is an antineoplastic and for this study being used for its immunosuppresive mechanism of action. Patient will be given Cyclophosphamide 50 mg/kg/d IV per package insert and standand of care on Day +3 and 4 after receiving the cells

Primary Outcome Measures :
  1. To determine engraftment rates with the use of high cell doses, without increasing the risk of GvHD by using post- transplant cyclophosphamide and sirolimus in conjunction with a busulfan- based conditioning regimen. We will compare the incidenc... [ Time Frame: 5 years ]
    This study is still recruiting patients.

Secondary Outcome Measures :
  1. To measure the engraftment rate and the engraftment kinetics using such a regimen [ Time Frame: 5 years ]
    This study is still recruiting patients

  2. To assess the level and kinetics of immune reconstitution (via chimerism) when using post- transplant cyclophosphamide [ Time Frame: 5 years ]
    This study is still recruiting patients

  3. To further elucidate the factors involved in the development of GvHD and graft rejection/failure [ Time Frame: 5 years ]
    This study is still recruiting patients

  4. To evaluate the risk of viral infections in the setting of , Alemtuzumab (Campath-1H) and post-transplant cyclophosphamide [ Time Frame: 5 years ]
    This study is still recruiting patients

  5. To assess overall survival [ Time Frame: 5 years ]
    This study is still recruiting patients

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   4 Years to 65 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • Must have confirmed Chronic Granulomatous Disease.
  • Must have sufficient complications from underlying disease to warrant undergoing transplantation (either a history of or ongoing inflammation/CGD related autoimmunity OR a CGD related infection while on prophylaxis) OR or have a Quartile 1 and/or 2 residual oxidase production level.
  • Ages 4 years - 65 years
  • HLA-matched family donor graft or an HLA matched unrelated peripheral blood stem cell (PBSC) graft (10/10 or 9/10 mismatch) available
  • Must be HIV negative
  • Must be able to stay within one hour s travel of the NIH for the first 3 months after transplantation and have a family member or other designated companion to stay with during the post transplant period.
  • Must provide a durable power of attorney for health care decisions to an appropriate adult relative or guardian in accordance to NIH -200 NIH Durable Power of Attorney for Health Care Decision Making .
  • If of child-bearing potential, must agree to consistently use contraception from one month prior to, and throughout, study participation, and for 3 months post-study. Acceptable forms of contraception are:

    • Contraceptive pills or patch, Norplant , Depo-Provera , or other FDA-approved contraceptive method
    • Male partner has previously undergone a vasectomy.
    • Male participants will be advised to consistently use contraception throughout study participation and for 3 months post-transplant.


  • Eastern Cooperative Oncology Group (ECOG) or equivalent performance status greater than or equal to 3 (See Supportive Care guidelines, available at
  • Left ventricular ejection fraction < 40%
  • Transaminases > 5x upper limit of normal based on the participant s clinical situation and at the discretion of the investigator
  • Psychiatric disorder or mental deficiency severe enough as to make compliance with the HSCT treatment unlikely, and/or making regulatorily and legally effective informed consent impossible
  • Major anticipated illness or organ failure incompatible with survival from AlloPBSC transplant
  • Pregnant or lactating
  • HIV positive
  • Uncontrolled seizure disorder
  • Individuals older than 65 are excluded. It is known from standard transplantation that these participants have a higher risk of morbidity and mortality related to transplantation. Given the investigational nature of this protocol, the risk benefit ratio is not warranted to include these participants at this time.
  • Any condition or circumstance which the PI feels would create difficulty in maintaining compliance with the requirements of this protocol.
  • Individuals who are not willing to submit their information as part of the Alemtuzumab (Campath) Distribution Program application or participants whom the Distribution Program committee has determined are not qualified to receive alemtuzumab.
  • Patients with a CRP greater than 100 mg/L within 30 days of anticipated transplant.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02629120

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Contact: Corin Kelly, R.N. (301) 451-7906

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
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Principal Investigator: Elizabeth M Kang, M.D. National Institute of Allergy and Infectious Diseases (NIAID)

Additional Information:
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Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID) Identifier: NCT02629120    
Other Study ID Numbers: 160032
First Posted: December 14, 2015    Key Record Dates
Last Update Posted: April 2, 2020
Last Verified: March 26, 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):
The National Marrow Donor Program (NMDP)
Matched Unrelated Donor (MUD)
HLA Matched Related Donor
Additional relevant MeSH terms:
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Granulomatous Disease, Chronic
Lymphoproliferative Disorders
Lymphatic Diseases
Pathologic Processes
Phagocyte Bactericidal Dysfunction
Leukocyte Disorders
Hematologic Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Immunologic Deficiency Syndromes
Immune System Diseases
Immunosuppressive Agents
Immunologic Factors
Physiological Effects of Drugs
Antirheumatic Agents
Antineoplastic Agents, Alkylating
Alkylating Agents
Molecular Mechanisms of Pharmacological Action
Antineoplastic Agents
Myeloablative Agonists
Anti-Bacterial Agents
Anti-Infective Agents
Antibiotics, Antineoplastic
Antifungal Agents