Sequential Transplantation of UCBSCs and Islet Cells in Children and Adolescents With Monogenic Immunodeficiency T1DM

• ClinicalTrials.gov Identifier: NCT03835312
• Recruitment Status: Recruiting
• First Posted: February 8, 2019
• Last Update Posted: August 5, 2022
• Sponsor: Children's Hospital of Fudan University
• Information provided by (Responsible Party): Children's Hospital of Fudan University

Study Description

Brief Summary:

This study evaluates the efficacy of sequential transplantation of umbilical cord blood stem cells and islet cells in children with monogenic immunodeficiency type 1 diabetes mellitus. Umbilical cord blood stem cell transplantation will be performed first. Children with stable immune reconstruction will than receive islet cell transplantation.

Condition or disease	Intervention/treatment	Phase
Diabetes Mellitus, Type 1; Immunologic Deficiency Syndromes	Procedure: Sequential transplantation	Not Applicable

Detailed Description:

Monogenic immunodeficiency type 1 diabetes mellitus (T1DM) usually onsets in early age and has a long course of treatment. Because of T cell deficiency, patients are prone to recurrent infection, hemorrhage, sepsis, colitis or complications of diabetes mellitus, which lead to early death.

New clinical treatment schemes have been explored and introduced around the world. Sequential transplantation of umbilical cord blood stem cells and islet cells is the latest treatment method for these children. Early treatment of monogenic immunodeficiency T1DM children can avoid disease-related organ toxicity, infection risk associated with chronic immunosuppression, and possible prevention of autoimmune endocrine organ damage. Thus, sequential transplantation of umbilical cord blood stem cells and islet cells is the only possible cure for those patients currently.

Study Design

• Study Type: Interventional (Clinical Trial)
• Estimated Enrollment: 50 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Treatment
• Official Title: Sequential Transplantation of Umbilical Cord Blood Stem Cells and Islet Cells in Children and Adolescents With Monogenic Immunodeficiency Type 1 Diabetes Mellitus
• Actual Study Start Date: February 20, 2019
• Estimated Primary Completion Date: December 31, 2024
• Estimated Study Completion Date: December 31, 2024

Arms and Interventions

Arm

Intervention/treatment

Experimental: Interventional; Sequential transplantation of umbilical cord blood stem cells and islet cells

Procedure: Sequential transplantation; After successful matching of umbilical cord blood stem cells, patients will receive pretreatment and chemotherapy under protective isolation, followed by thawing and reinfusion of umbilical cord blood stem cells. Immunosuppressive agents will be used for GVHD prevention and anti-infection support will be provided after reinfusion. The status of umbilical cord blood stem cell implantation, immune reconstruction and therapeutic effect will be evaluated. Islet transplantation will be performed in those who meet the conditions. The long-term prognosis will be observed by long-term follow-up.

Outcome Measures

Primary Outcome Measures :

1. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 3 months ]
   Islet function (concentration of serum C-peptide)
2. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 3 years ]
   Islet function (concentration of serum C-peptide)

Secondary Outcome Measures :

1. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 6 months ]
   Islet function (concentration of serum C-peptide)
2. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 9 months ]
   Islet function (concentration of serum C-peptide)
3. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 12 months ]
   Islet function (concentration of serum C-peptide)
4. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 15 months ]
   Islet function (concentration of serum C-peptide)
5. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 18 months ]
   Islet function (concentration of serum C-peptide)
6. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 21 months ]
   Islet function (concentration of serum C-peptide)
7. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 24 months ]
   Islet function (concentration of serum C-peptide)
8. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 27 months ]
   Islet function (concentration of serum C-peptide)
9. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 30 months ]
   Islet function (concentration of serum C-peptide)
10. Concentration of serum C-peptide [ Time Frame: from the completion of treatment to 33 months ]
    Islet function (concentration of serum C-peptide)
11. Concentration of serum insulin [ Time Frame: from the completion of treatment to 3 months ]
    Concentration of serum insulin
12. Concentration of serum insulin [ Time Frame: from the completion of treatment to 6 months ]
    Concentration of serum insulin
13. Concentration of serum insulin [ Time Frame: from the completion of treatment to 9 months ]
    Concentration of serum insulin
14. Concentration of serum insulin [ Time Frame: from the completion of treatment to 12 months ]
    Concentration of serum insulin
15. Concentration of serum insulin [ Time Frame: from the completion of treatment to 15 months ]
    Concentration of serum insulin
16. Concentration of serum insulin [ Time Frame: from the completion of treatment to 18 months ]
    Concentration of serum insulin
17. Concentration of serum insulin [ Time Frame: from the completion of treatment to 21 months ]
    Concentration of serum insulin
18. Concentration of serum insulin [ Time Frame: from the completion of treatment to 24 months ]
    Concentration of serum insulin
19. Concentration of serum insulin [ Time Frame: from the completion of treatment to 27 months ]
    Concentration of serum insulin
20. Concentration of serum insulin [ Time Frame: from the completion of treatment to 30 months ]
    Concentration of serum insulin
21. Concentration of serum insulin [ Time Frame: from the completion of treatment to 33 months ]
    Concentration of serum insulin
22. Concentration of serum insulin [ Time Frame: from the completion of treatment to 36 months ]
    Concentration of serum insulin
23. Fast blood glucose level [ Time Frame: from the completion of treatment to 3 months ]
    Fast blood glucose level
24. Fast blood glucose level [ Time Frame: from the completion of treatment to 6 months ]
    Fast blood glucose level
25. Fast blood glucose level [ Time Frame: from the completion of treatment to 9 months ]
    Fast blood glucose level
26. Fast blood glucose level [ Time Frame: from the completion of treatment to 12 months ]
    Fast blood glucose level
27. Fast blood glucose level [ Time Frame: from the completion of treatment to 15 months ]
    Fast blood glucose level
28. Fast blood glucose level [ Time Frame: from the completion of treatment to 18 months ]
    Fast blood glucose level
29. Fast blood glucose level [ Time Frame: from the completion of treatment to 21 months ]
    Fast blood glucose level
30. Fast blood glucose level [ Time Frame: from the completion of treatment to 24 months ]
    Fast blood glucose level
31. Fast blood glucose level [ Time Frame: from the completion of treatment to 27 months ]
    Fast blood glucose level
32. Fast blood glucose level [ Time Frame: from the completion of treatment to 30 months ]
    Fast blood glucose level
33. Fast blood glucose level [ Time Frame: from the completion of treatment to 33 months ]
    Fast blood glucose level
34. Fast blood glucose level [ Time Frame: from the completion of treatment to 36 months ]
    Fast blood glucose level
35. HbA1c level [ Time Frame: from the completion of treatment to 3 months ]
    HbA1c level
36. HbA1c level [ Time Frame: from the completion of treatment to 6 months ]
    HbA1c level
37. HbA1c level [ Time Frame: from the completion of treatment to 9 months ]
    HbA1c level
38. HbA1c level [ Time Frame: from the completion of treatment to 12 months ]
    HbA1c level
39. HbA1c level [ Time Frame: from the completion of treatment to 15 months ]
    HbA1c level
40. HbA1c level [ Time Frame: from the completion of treatment to 18 months ]
    HbA1c level
41. HbA1c level [ Time Frame: from the completion of treatment to 21 months ]
    HbA1c level
42. HbA1c level [ Time Frame: from the completion of treatment to 24 months ]
    HbA1c level
43. HbA1c level [ Time Frame: from the completion of treatment to 27 months ]
    HbA1c level
44. HbA1c level [ Time Frame: from the completion of treatment to 30 months ]
    HbA1c level
45. HbA1c level [ Time Frame: from the completion of treatment to 33 months ]
    HbA1c level
46. HbA1c level [ Time Frame: from the completion of treatment to 36 months ]
    HbA1c level
47. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 3 months ]
    occurrence of infection (number of infections)
48. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 6 months ]
    occurrence of infection (number of infections)
49. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 9 months ]
    occurrence of infection (number of infections)
50. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 12 months ]
    occurrence of infection (number of infections)
51. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 15 months ]
    occurrence of infection (number of infections)
52. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 18 months ]
    occurrence of infection (number of infections)
53. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 21 months ]
    occurrence of infection (number of infections)
54. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 24 months ]
    occurrence of infection (number of infections)
55. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 27 months ]
    occurrence of infection (number of infections)
56. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 30 months ]
    occurrence of infection (number of infections)
57. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 33 months ]
    occurrence of infection (number of infections)
58. occurrence of infection (number of infections) [ Time Frame: from the completion of treatment to 36 months ]
    occurrence of infection (number of infections)
59. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 3 months ]
    Concentration of blood immunoglobulin
60. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 6 months ]
    Concentration of blood immunoglobulin
61. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 9 months ]
    Concentration of blood immunoglobulin
62. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 12 months ]
    Concentration of blood immunoglobulin
63. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 15 months ]
    Concentration of blood immunoglobulin
64. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 18 months ]
    Concentration of blood immunoglobulin
65. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 21 months ]
    Concentration of blood immunoglobulin
66. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 24 months ]
    Concentration of blood immunoglobulin
67. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 27 months ]
    Concentration of blood immunoglobulin
68. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 30 months ]
    Concentration of blood immunoglobulin
69. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 33 months ]
    Concentration of blood immunoglobulin
70. Concentration of blood immunoglobulin [ Time Frame: from the completion of treatment to 36 months ]
    Concentration of blood immunoglobulin
71. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 3 months ]
    Concentration of T lymphocyte subsets
72. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 6 months ]
    Concentration of T lymphocyte subsets
73. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 9 months ]
    Concentration of T lymphocyte subsets
74. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 12 months ]
    Concentration of T lymphocyte subsets
75. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 15 months ]
    Concentration of T lymphocyte subsets
76. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 18 months ]
    Concentration of T lymphocyte subsets
77. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 21 months ]
    Concentration of T lymphocyte subsets
78. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 24 months ]
    Concentration of T lymphocyte subsets
79. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 27 months ]
    Concentration of T lymphocyte subsets
80. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 30 months ]
    Concentration of T lymphocyte subsets
81. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 33 months ]
    Concentration of T lymphocyte subsets
82. Concentration of T lymphocyte subsets [ Time Frame: from the completion of treatment to 36 months ]
    Concentration of T lymphocyte subsets
83. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 3 months ]
    Cytokines (concentraion of interleukin-2)
84. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 6 months ]
    Cytokines (concentraion of interleukin-2)
85. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 9 months ]
    Cytokines (concentraion of interleukin-2)
86. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 12 months ]
    Cytokines (concentraion of interleukin-2)
87. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 15 months ]
    Cytokines (concentraion of interleukin-2)
88. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 18 months ]
    Cytokines (concentraion of interleukin-2)
89. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 21 months ]
    Cytokines (concentraion of interleukin-2)
90. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 24 months ]
    Cytokines (concentraion of interleukin-2)
91. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 27 months ]
    Cytokines (concentraion of interleukin-2)
92. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 30 months ]
    Cytokines (concentraion of interleukin-2)
93. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 33 months ]
    Cytokines (concentraion of interleukin-2)
94. Concentraion of interleukin-2 [ Time Frame: from the completion of treatment to 36 months ]
    Cytokines (concentraion of interleukin-2)
95. Body height [ Time Frame: from the completion of treatment to 3 months ]
    Body height
96. Body height [ Time Frame: from the completion of treatment to 6 months ]
    Body height
97. Body height [ Time Frame: from the completion of treatment to 9 months ]
    Body height
98. Body height [ Time Frame: from the completion of treatment to 12 months ]
    Body height
99. Body height [ Time Frame: from the completion of treatment to 15 months ]
    Body height
100. Body height [ Time Frame: from the completion of treatment to 18 months ]
     Body height
101. Body height [ Time Frame: from the completion of treatment to 21 months ]
     Body height
102. Body height [ Time Frame: from the completion of treatment to 24 months ]
     Body height
103. Body height [ Time Frame: from the completion of treatment to 27 months ]
     Body height
104. Body height [ Time Frame: from the completion of treatment to 30 months ]
     Body height
105. Body height [ Time Frame: from the completion of treatment to 33 months ]
     Body height
106. Body height [ Time Frame: from the completion of treatment to 36 months ]
     Body height
107. Body weight [ Time Frame: from the completion of treatment to 3 months ]
     Body weight
108. Body weight [ Time Frame: from the completion of treatment to 6 months ]
     Body weight
109. Body weight [ Time Frame: from the completion of treatment to 9 months ]
     Body weight
110. Body weight [ Time Frame: from the completion of treatment to 12 months ]
     Body weight
111. Body weight [ Time Frame: from the completion of treatment to 15 months ]
     Body weight
112. Body weight [ Time Frame: from the completion of treatment to 18 months ]
     Body weight
113. Body weight [ Time Frame: from the completion of treatment to 21 months ]
     Body weight
114. Body weight [ Time Frame: from the completion of treatment to 24 months ]
     Body weight
115. Body weight [ Time Frame: from the completion of treatment to 27 months ]
     Body weight
116. Body weight [ Time Frame: from the completion of treatment to 30 months ]
     Body weight
117. Body weight [ Time Frame: from the completion of treatment to 33 months ]
     Body weight
118. Body weight [ Time Frame: from the completion of treatment to 36 months ]
     Body weight
119. Tanner stage [ Time Frame: from the completion of treatment to 3 months ]
     Puberty change (Tanner stage)
120. Tanner stage [ Time Frame: from the completion of treatment to 6 months ]
     Puberty change (Tanner stage)
121. Tanner stage [ Time Frame: from the completion of treatment to 9 months ]
     Puberty change (Tanner stage)
122. Tanner stage [ Time Frame: from the completion of treatment to 12 months ]
     Puberty change (Tanner stage)
123. Tanner stage [ Time Frame: from the completion of treatment to 15 months ]
     Puberty change (Tanner stage)
124. Tanner stage [ Time Frame: from the completion of treatment to 18 months ]
     Puberty change (Tanner stage)
125. Tanner stage [ Time Frame: from the completion of treatment to 21 months ]
     Puberty change (Tanner stage)
126. Tanner stage [ Time Frame: from the completion of treatment to 24 months ]
     Puberty change (Tanner stage)
127. Tanner stage [ Time Frame: from the completion of treatment to 27 months ]
     Puberty change (Tanner stage)
128. Tanner stage [ Time Frame: from the completion of treatment to 30 months ]
     Puberty change (Tanner stage)
129. Tanner stage [ Time Frame: from the completion of treatment to 33 months ]
     Puberty change (Tanner stage)
130. Tanner stage [ Time Frame: from the completion of treatment to 36 months ]
     Puberty change (Tanner stage)
131. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 3 months ]
     Occurrence of graft versus host disease
132. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 6 months ]
     Occurrence of graft versus host disease
133. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 9 months ]
     Occurrence of graft versus host disease
134. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 12 months ]
     Occurrence of graft versus host disease
135. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 15 months ]
     Occurrence of graft versus host disease
136. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 18 months ]
     Occurrence of graft versus host disease
137. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 21 months ]
     Occurrence of graft versus host disease
138. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 24 months ]
     Occurrence of graft versus host disease
139. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 27 months ]
     Occurrence of graft versus host disease
140. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 30 months ]
     Occurrence of graft versus host disease
141. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 33 months ]
     Occurrence of graft versus host disease
142. Occurrence of graft versus host disease [ Time Frame: from the completion of treatment to 36 months ]
     Occurrence of graft versus host disease

Eligibility Criteria

• Ages Eligible for Study: up to 18 Years (Child, Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Criteria

Inclusion Criteria:

1.Type 1 diabetes mellitus children with genetic immunodeficiency

1. Meet the diagnostic criteria of type 1 diabetes mellitus: clinical manifestations of typical diabetes mellitus include polyphagia, polyuria, weight loss, or diabetic ketoacidosis, confirmed by blood sugar level, islet function and autoimmune antibody.
2. Existence of extrapancreatic organ damage: (1) inflammatory bowel disease, (2) impairment of renal function, (3) repeated infection of mouth, skin, anus or whole body, (4) immune hepatitis, (5) persistent chronic immune iridocyclitis, (6) immune adrenalinitis leading to adrenocortical dysfunction, (7) pituitary inflammation leading to hypophysis, (8) rheumatoid disease, (9) immune vasculitis, (10) systemic lupus erythematosus, (11) other organs besides thyroid function damage. Suffering from one or more of above diseases. Recurrence after receiving regular clinical treatment, including symptomatic treatment of organ protective drugs.
3. Gene mutation was found according to gene diagnosis: gene mutation was found by gene sequencing. Literature searches at home and abroad confirmed that the defect of the gene resulted in autoimmune or immune dysfunction, resulting in multiple organ dysfunction and poor prognosis.

Exclusion Criteria:

1. Mature and effective treatment methods are available.
2. HIV, HBV and HCV were positive.
3. A the active period of infection.
4. At the active stage of malignant tumors.
5. Combination of other fatal diseases.
6. Existence of mental and psychological diseases.

Contacts and Locations

Contacts

Contact: Luo Feihong; +862164931226 ext +862164931226; luofh@fudan.edu.cn

Contact: Xu Zhenran; +862164931226 ext +862164931226; xu_zhenran@163.com

Locations

China, Shanghai

Children's Hospital of Fudan University; Recruiting

Shanghai, Shanghai, China

Contact: Luo Feihong +862164931226 ext +862164931226 luofh@fudan.edu.cn

Contact: Xu Zhenran +862164931226 ext +862164931226 xu_zhenran@fudan.edu.cn

Sponsors and Collaborators

Children's Hospital of Fudan University

Investigators

• Study Chair: Luo Feihong; Children's Hospital of Fudan University

  Study Documents (Full-Text)

Documents provided by Children's Hospital of Fudan University:

Study Protocol  [PDF] October 16, 2018

Statistical Analysis Plan  [PDF] October 16, 2018

Informed Consent Form  [PDF] October 16, 2018

More Information

Publications:

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Fu H, Shen SX, Chen ZW, Wang JJ, Ye TT, LaPorte RE, Tajima N. Shanghai, China, has the lowest confirmed incidence of childhood diabetes in the world. Diabetes Care. 1994 Oct;17(10):1206-8. doi: 10.2337/diacare.17.10.1206.

Zhao Z, Sun C, Wang C, Li P, Wang W, Ye J, Gu X, Wang X, Shen S, Zhi D, Lu Z, Ye R, Cheng R, Xi L, Li X, Zheng Z, Zhang M, Luo F. Rapidly rising incidence of childhood type 1 diabetes in Chinese population: epidemiology in Shanghai during 1997-2011. Acta Diabetol. 2014 Dec;51(6):947-53. doi: 10.1007/s00592-014-0590-2. Epub 2014 Apr 29.

Daniels M, DuBose SN, Maahs DM, Beck RW, Fox LA, Gubitosi-Klug R, Laffel LM, Miller KM, Speer H, Tamborlane WV, Tansey MJ; T1D Exchange Clinic Network. Factors associated with microalbuminuria in 7,549 children and adolescents with type 1 diabetes in the T1D Exchange clinic registry. Diabetes Care. 2013 Sep;36(9):2639-45. doi: 10.2337/dc12-2192. Epub 2013 Apr 22.

Amin R, Widmer B, Prevost AT, Schwarze P, Cooper J, Edge J, Marcovecchio L, Neil A, Dalton RN, Dunger DB. Risk of microalbuminuria and progression to macroalbuminuria in a cohort with childhood onset type 1 diabetes: prospective observational study. BMJ. 2008 Mar 29;336(7646):697-701. doi: 10.1136/bmj.39478.378241.BE. Epub 2008 Mar 18.

Mollsten A, Svensson M, Waernbaum I, Berhan Y, Schon S, Nystrom L, Arnqvist HJ, Dahlquist G; Swedish Childhood Diabetes Study Group; Diabetes Incidence Study in Sweden; Swedish Renal Registry. Cumulative risk, age at onset, and sex-specific differences for developing end-stage renal disease in young patients with type 1 diabetes: a nationwide population-based cohort study. Diabetes. 2010 Jul;59(7):1803-8. doi: 10.2337/db09-1744. Epub 2010 Apr 27.

American Diabetes Association. (2) Classification and diagnosis of diabetes. Diabetes Care. 2015 Jan;38 Suppl:S8-S16. doi: 10.2337/dc15-S005. No abstract available.

Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet. 2002 Aug;39(8):537-45. doi: 10.1136/jmg.39.8.537.

Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25.

Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 2001 Jan;27(1):20-1. doi: 10.1038/83713.

Rao A, Kamani N, Filipovich A, Lee SM, Davies SM, Dalal J, Shenoy S. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood. 2007 Jan 1;109(1):383-5. doi: 10.1182/blood-2006-05-025072. Epub 2006 Sep 21.

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• Responsible Party: Children's Hospital of Fudan University
• ClinicalTrials.gov Identifier: NCT03835312
• Other Study ID Numbers: SeqTranUCBC&IC-001
• First Posted: February 8, 2019
• Last Update Posted: August 5, 2022
• Last Verified: August 2022

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Children's Hospital of Fudan University:

Islets of Langerhans Transplantation; Cord Blood Stem Cell Transplantation

Additional relevant MeSH terms:

Diabetes Mellitus; Diabetes Mellitus, Type 1; Immunologic Deficiency Syndromes; Glucose Metabolism Disorders; Metabolic Diseases; Endocrine System Diseases; Immune System Diseases; Autoimmune Diseases