Thymus Transplantation Dose in DiGeorge #932

NCT ID: NCT00576836

Last Updated: 2022-03-25

Study Results

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE2

Total Enrollment

7 participants

Study Classification

INTERVENTIONAL

Study Start Date

2004-09-02

Study Completion Date

2019-12-31

Brief Summary

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One purpose of this study is to determine whether the amount of cultured thymus tissue implanted into DiGeorge anomaly infants has any effect on the immune outcome. Another purpose of this study is to determine whether parental parathyroid transplantation (in addition to cultured thymus tissue implantation (CTTI) can help both the immune and the calcium problems in DiGeorge infants with hypocalcemia. \[Funding Source - FDA Office of Orphan Products Development (OOPD)\]

Detailed Description

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DiGeorge anomaly is a congenital disorder in which infants are born with defects of the thymus, heart, and parathyroid gland. Complete DiGeorge Anomaly is usually fatal within the first two years of life. This trial evaluates the role of cultured thymus tissue dose in cultured thymus tissue implantation (CTTI) in complete (typical) DiGeorge anomaly infants, and continues safety assessments.

DiGeorge infants who have successful CTTIs but remain with hypoparathyroidism must go to the clinic for frequent calcium levels and to the hospital for calcium infusions; these infants are at risk for seizures from low calcium. Approximately ½ of infants with profound hypoparathyroidism will develop nephrocalcinosis. This protocol had a parental parathyroid transplant arm for complete DiGeorge infants with athymia and profound hypoparathyroidism.

Conditions

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DiGeorge Anomaly DiGeorge Syndrome Complete DiGeorge Anomaly Complete DiGeorge Syndrome

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Cultured Thymus Tissue Implantation w Parathyroid Transplant

Cultured Thymus Tissue Implantation With Parathyroid Tissue Transplantation. Subjects who were enrolled in this arm underwent cultured thymus tissue implantation with parathyroid transplantation, if eligible.

No specific dose was assigned. The thymus tissue dose was the number of grams of cultured thymus tissue divided by the weight of the recipient in kg or per square meter of body surface area of the recipient.

There was a one time administration of the cultured thymus tissue and parathyroid tissue.

Group Type EXPERIMENTAL

Cultured Thymus Tissue Implantation with Parathyroid Transplantation

Intervention Type OTHER

Parental parathyroid donors screened for eligibility and safety. If both parents meet eligibility criteria, the parathyroid will be harvested from parent who shares the most Human Leukocyte Antigens (HLA) alleles with thymus donor. Parathyroid harvest \& transplant preferably done at same time as CTTI. (If parathyroid transplant cannot be done at same time, then it is done within 3-8 weeks of CTTI.) Parathyroid harvest done under general anesthesia. One parathyroid gland is minced \& placed in quadriceps muscle; there is no dose in mg. No biopsy done of the parathyroid. Parathyroid donors are monitored as outpatients until recipients' discharge. Recipients' calcium and PTH levels are monitored indefinitely.

Cultured Thymus Tissue Implantation

Cultured Thymus Tissue Implantation. Subjects who were enrolled in this arm underwent cultured thymus tissue implantation (CTTI) only.

No specific dose was assigned. The thymus tissue dose was the number of grams of cultured thymus tissue divided by the weight of the recipient in kg or per square meter of body surface area of the recipient.

There was a one time administration of the cultured thymus tissue.

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Group Type EXPERIMENTAL

Cultured Thymus Tissue Implantation (CTTI)

Intervention Type BIOLOGICAL

Thymus tissue (from unrelated donor), thymus donor, and thymus donor's birth mother screened for safety. CTTI was done under general anesthesia. Cultured thymus tissue was implanted into quadriceps. Thymus dose at least 4grams/m2 body surface area (0.2 grams/kg body weight) and not \>18 grams/m2 body surface area (1.0 grams/kg body weight). At time of CTTI, skin biopsy was obtained to look for preexisting T cells. 2-3 months post-CTTI allograft biopsy was done to evaluate for thymopoiesis \& graft rejection. At time of biopsy, skin biopsy done to look for T cell clonal populations. (Allograft biopsy not done if subject medically unstable.) Post-CTTI, subjects followed by immune evaluations, using blood samples.

Interventions

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Cultured Thymus Tissue Implantation (CTTI)

Thymus tissue (from unrelated donor), thymus donor, and thymus donor's birth mother screened for safety. CTTI was done under general anesthesia. Cultured thymus tissue was implanted into quadriceps. Thymus dose at least 4grams/m2 body surface area (0.2 grams/kg body weight) and not \>18 grams/m2 body surface area (1.0 grams/kg body weight). At time of CTTI, skin biopsy was obtained to look for preexisting T cells. 2-3 months post-CTTI allograft biopsy was done to evaluate for thymopoiesis \& graft rejection. At time of biopsy, skin biopsy done to look for T cell clonal populations. (Allograft biopsy not done if subject medically unstable.) Post-CTTI, subjects followed by immune evaluations, using blood samples.

Intervention Type BIOLOGICAL

Cultured Thymus Tissue Implantation with Parathyroid Transplantation

Parental parathyroid donors screened for eligibility and safety. If both parents meet eligibility criteria, the parathyroid will be harvested from parent who shares the most Human Leukocyte Antigens (HLA) alleles with thymus donor. Parathyroid harvest \& transplant preferably done at same time as CTTI. (If parathyroid transplant cannot be done at same time, then it is done within 3-8 weeks of CTTI.) Parathyroid harvest done under general anesthesia. One parathyroid gland is minced \& placed in quadriceps muscle; there is no dose in mg. No biopsy done of the parathyroid. Parathyroid donors are monitored as outpatients until recipients' discharge. Recipients' calcium and PTH levels are monitored indefinitely.

Intervention Type OTHER

Other Intervention Names

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Thymus Tissue for Transplantation CTTI Thymus and Parathyroid Transplant CTTI and Parathyroid Transplant

Eligibility Criteria

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Inclusion Criteria

* A parent or guardian of the DGS subject signed the consent form.
* Medical screening was completed.
* For a diagnosis of DGS, the subject had to have one of the following:

* Congenital heart disease;
* Hypocalcemia requiring replacement;
* 22q11.2 hemizygosity or 10p13 hemizygosity;
* CHARGE association or CHD7 mutation;
* A subject with abnormal ears whose mother had diabetes (type I, type II, or gestational).
* To meet the criteria of typical complete DiGeorge Anomaly (cDGA), the subject had to have either:

* Circulating CD3+ T cell count by flow cytometry \< 50/mm3 OR
* Circulating CD3+ T cells that were also positive for Cluster of Differentiation 45RA (CD45RA)+ CD62L+ and were \< 50/mm3 or less than 5% of total T cells.


* 2 tests in patient showing: intact parathyroid hormone (PTH) \< 5 pg/ml when ionized calcium \< 1.1 mmol/L
* 2 involved parents

Exclusion for Parathyroid Transplant Recipient:

* Parents do not meet enrollment criteria.
* Parent(s) decline to be parathyroid donor(s).

Parental Parathyroid Donor Inclusion:

* \> 18 years old
* Answers all questionnaire items and meets safety screening criteria
* Normal serum calcium
* Normal PTH function
* HLA typing consistent with parentage
* Parent chosen for donation will share HLA-DR allele in thymus donor; if not applicable, then either parent will be selected (if meet all other criteria).
* Must not be on anticoagulation or can come off for donation/transplantation

Parental Parathyroid Donor Exclusion:

* Donor is only living involved parent or caretaker of the recipient
* Hypoparathyroidism - low parathyroid hormone (PTH) in presence of low serum calcium and high serum phosphate
* Hyperparathyroidism (or history of) - elevated PTH in presence of high serum calcium and low serum phosphate
* History of cancer
* Evidence of any of following: HIV-1, HIV-2, HTLV-1, HTLV-2, syphilis, hepatitis B, hepatitis C, West Nile virus, or Trypanosoma Cruzi (Chagas disease)
* Elevated AST, ALT, alkaline phosphatase \> 3 times upper limit of normal
* History including receipt of a xenograft or risk factors for SARS, Mad Cow - Disease or smallpox. Note: if parent has Mad Cow Disease risk factors (but not active disease), parent(s) may give permission for transplantation.
* CMV positive urine
* Positive CMV IgM antibodies
* Positive IgM anti-EBV VCA
* On blood thinners and cannot stop for the parathyroid donation
* Elevated PT or PTT (\> ULN)
* Platelets \< 100,000
* Positive Toxoplasma IgM
* The donor will receive a history and physical; may be excluded based on PI's medical judgment
* Hemoglobin \< 9 g/dl
* Infectious lesion on head or neck
* Goiter on ultrasound
* Abnormal fiberoptic laryngoscopy of vocal cords
* Pregnancy
* Positive HSV IgG is not an exclusion; however, post transplantation prophylaxis is needed
* Positive VZV IgG is not an exclusion; however, post transplantation prophylaxis is needed
* Medical concern of otolaryngologist
* Concern by medical psychologist or social worker. Parents are interviewed together and separately regarding following areas: medical history; health habits; substance use; relationships and support; education/work history; mental status/psychological history; readiness for donation.
* Questionnaire (safety screening) responses can lead to exclusion.


* Competent to provide consent
* Willing to provide blood for testing (No other inclusion/exclusion for mother)

Exclusion Criteria

* Had heart surgery less than 4 weeks prior to projected implant date;
* Heart surgery anticipated within 3 months after the proposed time of implantation;
* Present or past lymphadenopathy;
* Rash associated with T cell infiltration of the dermis and epidermis;
* Rejection by the surgeon or anesthesiologist as surgical candidate;
* Lack of sufficient muscle tissue to accept a transplant of 4 g/m2 body surface area (BSA) or 0.2 g/kg subject bodyweight;
* Had human immunodeficiency virus (HIV) infection;
* Had prior attempts at immune reconstitution, such as bone marrow transplant or previous thymus transplantation;
* Ventilator support or positive pressure support: Subjects had to be off ventilator or other pressure support such as continuous positive airway pressure (CPAP) or bi-level positive airway pressure (BiPAP) support for 2 weeks prior to enrollment. If the subject was enrolled and was placed back on ventilator or pressure support, the subject had to be able to be weaned off and remain off ventilator or pressure support for 2 weeks. If the subject could not be successfully weaned off ventilator or pressure support, the subject was to be withdrawn from the study.
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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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 BACKGROUND
PMID: 18155964 (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 BACKGROUND
PMID: 12702512 (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)

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)

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, 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 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

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, 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

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)

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 RESULT
PMID: 21565561 (View on PubMed)

Ciupe SM, Devlin BH, Markert ML, Kepler TB. Quantification of total T-cell receptor diversity by flow cytometry and spectratyping. BMC Immunol. 2013 Aug 6;14:35. doi: 10.1186/1471-2172-14-35.

Reference Type RESULT
PMID: 23914737 (View on PubMed)

Other Identifiers

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FDA-FD-R-002606

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

2R01AI047040-11A2

Identifier Type: NIH

Identifier Source: secondary_id

View Link

R56 Bridge R01AI4704011A1

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

5K12HD043494-09

Identifier Type: NIH

Identifier Source: secondary_id

View Link

R01AI054843

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

932

Identifier Type: OTHER

Identifier Source: secondary_id

Pro00016144

Identifier Type: -

Identifier Source: org_study_id

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