Thymus Transplantation in DiGeorge Syndrome #668

NCT ID: NCT00576407

Last Updated: 2022-03-25

Study Results

Results available

Outcome measurements, participant flow, baseline characteristics, and adverse events have been published for this study.

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE2

Total Enrollment

26 participants

Study Classification

INTERVENTIONAL

Study Start Date

1991-10-31

Study Completion Date

2017-12-31

Brief Summary

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The study purpose is to determine whether cultured thymus tissue implantation (CTTI) is effective in treating typical complete DiGeorge syndrome.

Detailed Description

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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 underwent human postnatal cultured thymus tissue implantation (CTTI). Thymus tissue that would otherwise be discarded was processed and then implanted into complete DiGeorge subjects in the operating room. At the time of CTTI, a skin biopsy may have been obtained to look for any preexisting T cells. After CTTI, subjects were followed by routine research immune evaluations, using blood samples obtained approximately every 2-4 weeks. At approximately 2-3 months post-CTTI 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 cultured thymus tissue implantation; assessing minimally invasive methods of assessing thymopoiesis (flow cytometry and polymerase chain reaction (PCR); assessing pre-implant T cells which do not proliferate in response to mitogens (focusing on NK-T cells); and, assessing cultured thymus tissue implantation safety and toxicity.

Conditions

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DiGeorge Syndrome Complete Typical DiGeorge Anomaly

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Cultured Thymus Tissue Implantation in Complete DiGeorge

Participants with Complete DiGeorge Syndrome, who were eligible, received cultured thymus tissue implantation (CTTI).

No specific dose was assigned. There was a one time administration of the cultured thymus tissue.

Group Type EXPERIMENTAL

Cultured Thymus Tissue for Implantation (CTTI)

Intervention Type BIOLOGICAL

Cultured thymus tissue for implantation (CTTI) (previously described as transplantation) is done using allogeneic cultured postnatal tissue from unrelated thymus donors. Thymus tissue, the thymus donor, \& thymus donor's birth mother were screened for safety. Approximately 2-3 weeks post-harvest thymus slices were implanted into the recipient's quadriceps. Dose was number of grams of cultured thymus tissue divided by the recipient's weight in kilograms. Minimum dose was 4 g/m2. Maximum dose 18g/m2. At time of CTTI, a skin biopsy was obtained to look for preexisting T cells. 2-3 months post-CTTI allograft biopsy to evaluate for thymopoiesis \& graft rejection. At time of biopsy, skin biopsy done to look for T cell clonal populations. Post-CTTI, subjects followed by routine research immune evaluations, using blood samples for approximately 2 years.

Interventions

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Cultured Thymus Tissue for Implantation (CTTI)

Cultured thymus tissue for implantation (CTTI) (previously described as transplantation) is done using allogeneic cultured postnatal tissue from unrelated thymus donors. Thymus tissue, the thymus donor, \& thymus donor's birth mother were screened for safety. Approximately 2-3 weeks post-harvest thymus slices were implanted into the recipient's quadriceps. Dose was number of grams of cultured thymus tissue divided by the recipient's weight in kilograms. Minimum dose was 4 g/m2. Maximum dose 18g/m2. At time of CTTI, a skin biopsy was obtained to look for preexisting T cells. 2-3 months post-CTTI allograft biopsy to evaluate for thymopoiesis \& graft rejection. At time of biopsy, skin biopsy done to look for T cell clonal populations. Post-CTTI, subjects followed by routine research immune evaluations, using blood samples for approximately 2 years.

Intervention Type BIOLOGICAL

Other Intervention Names

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Thymus Tissue Thymus Tissue Transplantation Thymus Transplant CTTI

Eligibility Criteria

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Inclusion Criteria

* The subject's parent(s) signed the ICF.
* For a diagnosis of DiGeorge Syndrome (DGS), the subject had one of the following:

* Heart defect
* Hypoparathyroidism
* 22q11 hemizygosity
* 10p13 hemizygosity
* Coloboma, heart defect, choanal atresia, growth and development retardation, genital hypoplasia, ear anomalies/ deafness CHARGE association mutation (CHD7 deletion);
* PHA proliferative responses less than 20-fold above background.
* Subjects with typical Complete DiGeorge Anomaly (cDGA) had to have one of the following on 2 separate occasions:
* Circulating CD3+ T cells by flow cytometry \< 50/mm3 or PHA \< 20-fold over background

* If CD3+ were \> 50/mm3, then CD45RA+ (cluster of differentiation 45RA) CD62L+ had to be \< 50/mm3
* Or T cell receptor rearrangement excision circles (TRECs) by PCR had to be \< 100 per 100,000 CD3+ cells.
* Subjects with atypical cDGA had to have both of the following with 2 studies each:

* Circulating CD3+ T cells by flow cytometry \> 500/mm3 and CD45RA+ CD62L+ CD3+ T cells \< 50/mm3 and TRECs less than 100 per 100,000 CD3+ cells.
* T cell proliferative response to PHA more than 20-fold over background. Circulating CD3+ T cells by flow cytometry \> 500/mm3 and CD45RA+ CD62L+ CD3+ T cells \< 50/mm3 and TRECs less than 100 per 100,000 CD3+ cells.
* T cell proliferative response to PHA more than 20-fold over background. While T cell response to PHA might have been seen, eligible subjects were to have no T cell proliferative response to antigens (less than 20-fold response) and were to have serious clinical problems related to immunodeficiency, such as opportunistic infection or failure to thrive.

Exclusion Criteria

* Subjects on ventilators, with tracheostomies, with cytomegalovirus (CMV) infections, or requiring ongoing steroids could still be enrolled, but their data were to be analyzed separately
* Subjects who had heart surgery \< 4 weeks prior to transplant
* Heart surgery anticipated within 3 months of the proposed time of transplantation
* Ongoing parenteral steroid therapy between enrollment and transplantation
* Present or past lymphadenopathy
* Rash associated with T cell infiltration of the dermis and epidermis
* Rejection by the surgeon or anesthesiologist as surgical candidates
* Lack of sufficient muscle tissue to accept a transplant of 4 g/m2 body surface area (BSA) of the recipient
* Prior attempts at immune reconstitution, such as bone marrow transplantation or previous thymus transplantation
* Human immunodeficiency virus (HIV) infection
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institutes of Health (NIH)

NIH

Sponsor Role collaborator

National Institute of Allergy and Infectious Diseases (NIAID)

NIH

Sponsor Role collaborator

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

NIH

Sponsor Role collaborator

Sumitomo Pharma Switzerland GmbH

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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M. Louise Markert, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Duke University Medical Center, Pediatrics, Allergy & Immunology

Locations

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Duke University Medical Center

Durham, North Carolina, United States

Site Status

Countries

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United States

References

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Li B, Li J, Devlin BH, Markert ML. Thymic microenvironment reconstitution after postnatal human thymus transplantation. Clin Immunol. 2011 Sep;140(3):244-59. doi: 10.1016/j.clim.2011.04.004. Epub 2011 Apr 16.

Reference Type BACKGROUND
PMID: 21565561 (View on PubMed)

Chinn IK, Olson JA, Skinner MA, McCarthy EA, Gupton SE, Chen DF, Bonilla FA, Roberts RL, Kanariou MG, Devlin BH, Markert ML. Mechanisms of tolerance to parental parathyroid tissue when combined with human allogeneic thymus transplantation. J Allergy Clin Immunol. 2010 Oct;126(4):814-820.e8. doi: 10.1016/j.jaci.2010.07.016. Epub 2010 Sep 15.

Reference Type BACKGROUND
PMID: 20832849 (View on PubMed)

Chinn IK, Milner JD, Scheinberg P, Douek DC, Markert ML. Thymus transplantation restores the repertoires of forkhead box protein 3 (FoxP3)+ and FoxP3- T cells in complete DiGeorge anomaly. Clin Exp Immunol. 2013 Jul;173(1):140-9. doi: 10.1111/cei.12088.

Reference Type BACKGROUND
PMID: 23607606 (View on PubMed)

Markert ML, Sarzotti M, Ozaki DA, Sempowski GD, Rhein ME, Hale LP, Le Deist F, Alexieff MJ, Li J, Hauser ER, Haynes BF, Rice HE, Skinner MA, Mahaffey SM, Jaggers J, Stein LD, Mill MR. Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood. 2003 Aug 1;102(3):1121-30. doi: 10.1182/blood-2002-08-2545. Epub 2003 Apr 17.

Reference Type RESULT
PMID: 12702512 (View on PubMed)

Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, Chinn IK, Hale LP, Kepler TB, He M, Sarzotti M, Skinner MA, Rice HE, Hoehner JC. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007 May 15;109(10):4539-47. doi: 10.1182/blood-2006-10-048652. Epub 2007 Feb 6.

Reference Type RESULT
PMID: 17284531 (View on PubMed)

Markert ML, Devlin BH, McCarthy EA. Thymus transplantation. Clin Immunol. 2010 May;135(2):236-46. doi: 10.1016/j.clim.2010.02.007. Epub 2010 Mar 16.

Reference Type RESULT
PMID: 20236866 (View on PubMed)

Markert ML and Devlin BH. Thymic reconstitution (in Rich RR, Shearer WT, Fleischer T, Schroeder HW, Weyand CM, Frew A, eds., Clinical Immunology 3rd edn., Elsevier, Edinburgh) p 1253-1262, 2008.

Reference Type RESULT

Chinn IK, Devlin BH, Li YJ, Markert ML. Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly. Clin Immunol. 2008 Mar;126(3):277-81. doi: 10.1016/j.clim.2007.11.009. Epub 2007 Dec 26.

Reference Type RESULT
PMID: 18155964 (View on PubMed)

Markert ML, Li J, Devlin BH, Hoehner JC, Rice HE, Skinner MA, Li YJ, Hale LP. Use of allograft biopsies to assess thymopoiesis after thymus transplantation. J Immunol. 2008 May 1;180(9):6354-64. doi: 10.4049/jimmunol.180.9.6354.

Reference Type RESULT
PMID: 18424759 (View on PubMed)

Hudson LL, Louise Markert M, Devlin BH, Haynes BF, Sempowski GD. Human T cell reconstitution in DiGeorge syndrome and HIV-1 infection. Semin Immunol. 2007 Oct;19(5):297-309. doi: 10.1016/j.smim.2007.10.002. Epub 2007 Nov 26.

Reference Type RESULT
PMID: 18035553 (View on PubMed)

Markert ML, Devlin BH, Chinn IK, McCarthy EA, Li YJ. Factors affecting success of thymus transplantation for complete DiGeorge anomaly. Am J Transplant. 2008 Aug;8(8):1729-36. doi: 10.1111/j.1600-6143.2008.02301.x. Epub 2008 Jun 28.

Reference Type RESULT
PMID: 18557726 (View on PubMed)

Markert ML, Devlin BH, Chinn IK, McCarthy EA. Thymus transplantation in complete DiGeorge anomaly. Immunol Res. 2009;44(1-3):61-70. doi: 10.1007/s12026-008-8082-5.

Reference Type RESULT
PMID: 19066739 (View on PubMed)

Markert ML, Marques JG, Neven B, Devlin BH, McCarthy EA, Chinn IK, Albuquerque AS, Silva SL, Pignata C, de Saint Basile G, Victorino RM, Picard C, Debre M, Mahlaoui N, Fischer A, Sousa AE. First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases. Blood. 2011 Jan 13;117(2):688-96. doi: 10.1182/blood-2010-06-292490. Epub 2010 Oct 26.

Reference Type RESULT
PMID: 20978268 (View on PubMed)

Markert ML, Devlin BH, McCarthy EA, Chinn IK, Hale LP. Thymus Transplantation in Thymus Gland Pathology: Clinical, Diagnostic, and Therapeutic Features. Eds Lavinin C, Moran CA, Morandi U, Schoenhuber R. Springer-Verlag Italia, Milan, 2008, pp 255-267.

Reference Type RESULT

Other Identifiers

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2R01AI047040-11A2

Identifier Type: NIH

Identifier Source: secondary_id

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R56 Bridge R01AI4704011A1

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

5K12HD043494-09

Identifier Type: NIH

Identifier Source: secondary_id

View Link

R01AI047040

Identifier Type: NIH

Identifier Source: secondary_id

View Link

3R56AI047040-11A1S1

Identifier Type: NIH

Identifier Source: secondary_id

View Link

R01AI054843

Identifier Type: NIH

Identifier Source: secondary_id

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#668

Identifier Type: OTHER

Identifier Source: secondary_id

Pro00009955

Identifier Type: -

Identifier Source: org_study_id

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