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| Sponsors and Collaborators: |
Duke University National Institutes of Health (NIH) |
|---|---|
| Information provided by: | Duke University |
| ClinicalTrials.gov Identifier: | NCT00579709 |
Purpose
The purpose of this research is to determine if thymus transplantation with immunosuppression is a safe and effective treatment for complete DiGeorge syndrome. The research will include studies to evaluate whether this procedure will result in complete DiGeorge syndrome infants developing a normal immune system.
| Condition | Intervention | Phase |
|---|---|---|
|
DiGeorge Syndrome |
Other: Thymus Transplantation |
Phase I |
| Study Type: | Interventional |
| Study Design: | Treatment, Non-Randomized, Open Label, Active Control, Single Group Assignment, Safety/Efficacy Study |
| Official Title: | Thymus Transplantation With Immunosuppression |
| Enrollment: | 15 |
| Study Start Date: | July 2002 |
| Estimated Study Completion Date: | June 2027 |
| Estimated Primary Completion Date: | December 2007 (Final data collection date for primary outcome measure) |
| Arms | Assigned Interventions |
|---|---|
|
1: Experimental
Thymus Transplantation
|
Other: Thymus Transplantation
3 Thymoglobulin doses given prior to thymus tx. Atypical subjects given Cyclosporine (Csa) pre-tx. Desired Csa concentration 180-300ng/ml. If post-tx T cell count remained <4000/cumm Csa weaned over 8 weeks. If T cell >4,000/cumm, Csa held at 180-300ng/ml. Thymus tissue, donor, & mother of donor were screened for transplant safety. In operating room, thymic slices were transplanted into quadriceps muscle in 1 or both legs. Subjects had routine blood research immune evaluations approximately every other week. 2-3 months post-tx, open biopsy of allograft. Immune blood studies continue on surviving subjects. Biological Mother: Mother provided blood sample used for DNA extraction, to identify/look for maternal T cell presence in recipient pre-tx, and/or for immune testing post-tx. |
DiGeorge Syndrome is a complex of cardiac defects, parathyroid deficiency, thymus absence, resulting in profound T-cell deficiency. There is a spectrum of disease in DiGeorge Syndrome with respect to all three defects. For complete DiGeorge subjects with severe T cell defect, the PI has shown that thymus transplantation is safe and efficacious without pretransplantation immunosuppression and with pretransplantation Thymoglobulin and cyclosporine.
Some DiGeorge patients have very poor T cell function and are at risk of death from infection or other immune problems; however, they have enough T cell function to reject grafts. This protocol is designed for them.
Atypical and some typical DiGeorge subjects will be included in this protocol: atypical and typical DiGeorge
Atypical complete DiGeorge syndrome patients have rash, lymphadenopathy, and oligoclonal T cell proliferations.
The T cells have no markers of thymic function (they do not co-express CD45RA and CD62L; they do not contain T cell receptor rearrangement excision circles, TRECs). Typical complete DiGeorge syndrome patients who enroll in this protocol are those whose PHA response >20 fold. Although these patients have very low T cell function, it may be enough to reject a transplant, so Thymoglobulin is used.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Transplant Inclusion
DiGeorge diagnosis - must have 1 symptom from the following list:
Atypical Diagnosis:
Typical Diagnosis:
Transplant Exclusion:
Contacts and Locations| United States, North Carolina | |
| Duke University Medical Center | |
| Durham, North Carolina, United States, 27710 | |
| Principal Investigator: | M. Louise Markert, MD, PhD | Duke University Medical Center, Pediatrics, Allergy & Immunology |
More Information
| Responsible Party: | Duke University Medical Center, Pediatric Allergy & Immunology ( M. Louise Markert, MD, PhD, Director, Laboratory of T Cell Reconstitution; Associate Professor ) |
| Study ID Numbers: | IRB# 3359 DCRU# 884, NIH RO1 AI 47040, NIH R01 AI 54843, Grants do not fund tx. |
| Study First Received: | December 20, 2007 |
| Last Updated: | December 20, 2007 |
| ClinicalTrials.gov Identifier: | NCT00579709 History of Changes |
| Health Authority: | United States: Food and Drug Administration; United States: Institutional Review Board |
|
Thymus Transplantation DiGeorge Syndrome Athymia |
Low T cell numbers Immunoreconstitution Immunodeficiency |
|
Parathyroid Diseases 22q11.2 Deletion Syndrome Cyclosporine Conotruncal Anomaly Face Syndrome Velocardiofacial Syndrome Endocrine System Diseases |
Endocrinopathy Hypoparathyroidism Congenital Abnormalities Cyclosporins Immunologic Deficiency Syndromes DiGeorge Syndrome |
|
Parathyroid Diseases Pathologic Processes Disease Immune System Diseases Syndrome |
Endocrine System Diseases Hypoparathyroidism Congenital Abnormalities Immunologic Deficiency Syndromes DiGeorge Syndrome |
