Thymus Transplantation in DiGeorge Syndrome #668

Descriptive Information
Brief Title † Thymus Transplantation in DiGeorge Syndrome #668
Official Title † Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668
Brief Summary The study purpose is to determine whether thymus transplantation without immunosuppression is effective in treating typical complete DiGeorge syndrome.
Detailed Description There is no safe and effective treatment for DiGeorge syndrome and most patients die by the age of two. Complete DiGeorge syndrome is characterized by very low T cell or very low naïve T cell numbers. In this study, typical complete DiGeorge syndrome subjects received human postnatal cultured thymus tissue transplants. Thymus tissue that would otherwise be discarded was transplanted into DiGeorge subjects in the operating room. At the time of transplantation, a skin biopsy was obtained to look for any preexisting T cells. After transplantation, subjects were followed by routine research immune evaluations, using blood samples obtained every 2-4 weeks. At approximately 2-3 months post-transplantation subjects underwent an open biopsy of the allograft. The biopsy was done under general anesthesia in the operating room. At the time of the graft biopsy, another skin biopsy was obtained to look for clonal populations of T cells. The protocol aims include: assessing thymopoiesis in the allograft biopsy; assessing immunoreconstitution of complete DiGeorge syndrome subjects after postnatal allogeneic thymus transplantation; assessing minimally invasive methods of assessing thymopoiesis (flow cytometry and polymerase chain reaction (PCR); assessing pre-transplant T cells which do not proliferate in response to mitogens (focusing on NK-T cells); and, assessing thymus transplantation safety and toxicity.
Study Phase Phase 2
Study Type † Interventional
Study Design † Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
Primary Outcome Measure † Survival rate at one year post-transplantation.
Secondary Outcome Measure † T cell proliferative response to tetanus toxoid
Condition † DiGeorge Syndrome Complete Typical DiGeorge Anomaly
Intervention † BiologicalThymus Tissue for Transplantation
Study Arms / Comparison Groups 1 Thymus Tissue for Transplantation in Complete DiGeorge Syndrome
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status † Biological
Estimated Enrollment † 26
Start Date † November 2001
Completion Date June 2027
Primary Completion Date February 2008
Eligibility Criteria † Inclusion Criteria: - Diagnosis of complete DiGeorge syndrome which is either: T cells with 5,000 cpm, whichever is higher, may be enrolled in another thymus transplant protocol.} - Must have heart disease; hypocalcemia requiring replacement; 22q11 or 10p13 hemizygosity; CHARGE association; or must be child of diabetic mother and have abnormal ears. Exclusion Criteria: - Those who do not meet inclusion criteria - Atypical DiGeorge syndrome phenotype - Rash indicating atypical DiGeorge syndrome phenotype. Transplant Exclusion: - Heart surgery
Gender Both
Ages N/A - N/A
Accepts Healthy Volunteers No
Contacts ††
Location Countries † United States
Administrative Information
NCT ID † NCT00576407
Organization ID Pro00009955
Secondary IDs †† 2R01AI047040-11A2, R56 Bridge R01AI4704011A1, 5K12HD043494-09, R01AI047040, 3R56AI047040-11A1S1, R01AI054843, #668
Responsible Party Sponsor-Investigator
Study Sponsor † M. Louise Markert
Collaborators †† National Institutes of Health (NIH)
Investigators † Principal Investigator: M. Louise Markert, MD, PhD, Duke University Medical Center, Pediatrics, Allergy & Immunology
Information Provided By
Verification Date August 2014
First Received Date † December 17, 2007
Last Updated Date August 21, 2014
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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