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Article ; Online: Parvovirus B19-associated graft failure after allogeneic hematopoietic stem cell transplantation.

Rattani, Nabila / Matheny, Christina / Eckrich, Michael J / Madden, Lisa M / Quigg, Troy C

Cancer reports (Hoboken, N.J.)

2021 Volume 5, Issue 1, Page(s) e1403

Abstract: Background: Parvovirus B19 (PVB19) infection has been implicated in allograft failure or dysfunction in solid organ transplantation (SOT) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), but the literature is limited.: Case: Two ... ...

Abstract	Background: Parvovirus B19 (PVB19) infection has been implicated in allograft failure or dysfunction in solid organ transplantation (SOT) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), but the literature is limited. Case: Two pediatric patients were diagnosed with PVB19 infection around the time of allo-HSCT graft failure. Both cases were secondary graft failure and required second allo-HSCT. Conclusion: There are many risk factors and potential confounders in determining the exact etiology of graft failure after allo-HSCT. These two cases highlight the importance of including PVB19 in the diagnostic evaluation for graft failure. PVB19 infection may be an important risk factor for allo-HSCT graft failure.
MeSH term(s)	Adolescent ; Graft Rejection/etiology ; Hematopoietic Stem Cell Transplantation/adverse effects ; Humans ; Infant ; Male ; Parvoviridae Infections/etiology ; Parvovirus B19, Human ; Risk Factors
Language	English
Publishing date	2021-05-01
Publishing country	United States
Document type	Case Reports ; Journal Article
ISSN	2573-8348
ISSN (online)	2573-8348
DOI	10.1002/cnr2.1403
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Article ; Online: Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome.

Mull, Jamie L / Madden, Lisa M / Bayliss, Susan J

Pediatric dermatology

2016 Volume 33, Issue 4, Page(s) e256–7

Abstract: We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He ... ...

Abstract	We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Secondary hematologic malignancies are a known complication of certain chemotherapeutics, although whether a patient with Gorlin syndrome has a greater propensity for the development of such malignancies is unclear.
MeSH term(s)	Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Basal Cell Nevus Syndrome/complications ; Basal Cell Nevus Syndrome/therapy ; Bone Marrow Transplantation ; Child ; Fatal Outcome ; Humans ; Male ; Mutation ; Myelodysplastic Syndromes/etiology ; Myelodysplastic Syndromes/therapy ; Patched-1 Receptor/genetics
Chemical Substances	PTCH1 protein, human ; Patched-1 Receptor
Language	English
Publishing date	2016-05-31
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	605539-4
ISSN	1525-1470 ; 0736-8046
ISSN (online)	1525-1470
ISSN	0736-8046
DOI	10.1111/pde.12880
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Article ; Online: Prospective PTCTC trial of myeloablative haplo-BMT with posttransplant cyclophosphamide for pediatric acute leukemias.

Blood advances

2023 Volume 7, Issue 18, Page(s) 5639–5648

Abstract: Promising results have been reported for adult patients with high-risk hematologic malignancies undergoing haploidentical bone marrow transplant (haploBMT) with posttransplant cyclophosphamide (PTCy). To our knowledge, we report results from the first ... ...

Abstract	Promising results have been reported for adult patients with high-risk hematologic malignancies undergoing haploidentical bone marrow transplant (haploBMT) with posttransplant cyclophosphamide (PTCy). To our knowledge, we report results from the first multicenter trial for pediatric and young adult patients with high-risk acute leukemias and myelodysplastic syndrome (MDS) in the Pediatric Transplantation and Cellular Therapy Consortium. Nine centers performed transplants in 32 patients having acute leukemias or MDS, with myeloablative conditioning (MAC), haploBMT with PTCy, mycophenolate mofetil, and tacrolimus. The median patient age was 12 years. Diagnoses included AML (15), ALL (11), mixed-lineage leukemia (1), and MDS (5). Transplant-related mortality (TRM) at 180 days was 0%. The cumulative incidence (CuI) of grade 2 acute graft-versus-host disease (aGVHD) on day 100 was 13%. No patients developed grades 3-4 aGVHD. The CuI of moderate-to-severe chronic GVHD (cGVHD) at 1 year was 4%. Donor engraftment occurred in 27 patients (84%). Primary graft failures included 3 patients who received suboptimal bone marrow grafts; all successfully engrafted after second transplants. The CuI of relapse at 1 year was 32%, with more relapse among patients MRD positive pre-BMT vs MRD negative. Overall survival rates at 1 and 2 years were 77% and 73%, and event-free survival rate at 1 and 2 years were 68% and 64%. There was no TRM or severe aGVHD, low cGVHD, and favorable relapse and survival rates. This successful pilot trial has led to a phase 3 trial comparing MAC haploBMT vs HLA-matched unrelated donor BMT in the Children's Oncology Group. This trial was registered at www.clinicaltrials.gov as #NCT02120157.
MeSH term(s)	Young Adult ; Humans ; Child ; Prospective Studies ; Cyclophosphamide/therapeutic use ; Bone Marrow Transplantation/adverse effects ; Graft vs Host Disease/etiology ; Leukemia/complications ; Acute Disease ; Myelodysplastic Syndromes/therapy ; Myelodysplastic Syndromes/complications ; Recurrence
Chemical Substances	Cyclophosphamide (8N3DW7272P)
Language	English
Publishing date	2023-05-02
Publishing country	United States
Document type	Multicenter Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2023010281
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Article ; Online: Late toxicity of a novel allogeneic stem cell transplant using single fraction total body irradiation for hematologic malignancies in children.

Madden, Lisa M / Ngwube, Alexander I / Shenoy, Shalini / Druley, Todd E / Hayashi, Robert J

Journal of pediatric hematology/oncology

2014 Volume 37, Issue 2, Page(s) e94–e101

Abstract: Single fraction total body irradiation (SFTBI) as part of a myeloablative preparative regimen in allogeneic hematopoietic stem cell transplantation (HSCT) for hematopoietic malignancies was shown to have similar survival compared with fractionated total ... ...

Abstract	Single fraction total body irradiation (SFTBI) as part of a myeloablative preparative regimen in allogeneic hematopoietic stem cell transplantation (HSCT) for hematopoietic malignancies was shown to have similar survival compared with fractionated total body irradiation (FTBI)-containing regimens, with less acute toxicity. The objective of this study was to determine long-term toxicity >2 years following SFTBI-based HSCT. Twenty-one patients were evaluated at a median follow-up of 6.8 years. Thyroid dysfunction was found in 21% of patients, 1 of whom (5.2%) was symptomatic; 23% had gonadal failure; 50% of patients with growth potential had linear growth disturbance; 27% had mild to moderate pulmonary disease; and 25% had cataracts. Intelligence quotient was stable. cGVHD was present in 28%, and 4 patients (19%) were on immune suppression 2 years posttransplant. Overall survival subsequent to 2 years posttransplant was 76% in this cohort of patients. No secondary malignancies were observed. In conclusion, the toxicities of SFTBI occurred at similar or reduced frequency compared with FTBI. SFTBI should be considered for patients who may benefit from a radiation-containing HSCT preparative regimen.
MeSH term(s)	Adolescent ; Adult ; Antineoplastic Agents, Alkylating/adverse effects ; Child ; Child, Preschool ; Combined Modality Therapy ; Cyclophosphamide/adverse effects ; Female ; Follow-Up Studies ; Graft vs Host Disease/diagnosis ; Graft vs Host Disease/etiology ; Graft vs Host Disease/mortality ; Hematologic Neoplasms/complications ; Hematologic Neoplasms/mortality ; Hematologic Neoplasms/therapy ; Hematopoietic Stem Cell Transplantation/adverse effects ; Humans ; Infant ; Male ; Prognosis ; Survival Rate ; Transplantation Conditioning ; Transplantation, Homologous ; Whole-Body Irradiation/adverse effects ; Young Adult
Chemical Substances	Antineoplastic Agents, Alkylating ; Cyclophosphamide (8N3DW7272P)
Language	English
Publishing date	2014-09-29
Publishing country	United States
Document type	Comparative Study ; Journal Article
ZDB-ID	1231152-2
ISSN	1536-3678 ; 1077-4114 ; 0192-8562
ISSN (online)	1536-3678
ISSN	1077-4114 ; 0192-8562
DOI	10.1097/MPH.0000000000000272
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Article ; Online: Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.

Abraham, Roshini S / Basu, Amrita / Heimall, Jennifer R / Dunn, Elizabeth / Yip, Alison / Kapadia, Malika / Kapoor, Neena / Satter, Lisa Forbes / Buckley, Rebecca / O'Reilly, Richard / Cuvelier, Geoffrey D E / Chandra, Sharat / Bednarski, Jeffrey / Chaudhury, Sonali / Moore, Theodore B / Haines, Hilary / Dávila Saldaña, Blachy J / Chellapandian, Deepakbabu / Rayes, Ahmad /

Chen, Karin / Caywood, Emi / Chandrakasan, Shanmuganathan / Lugt, Mark Thomas Vander / Ebens, Christen / Teira, Pierre / Shereck, Evan / Miller, Holly / Aquino, Victor / Eissa, Hesham / Yu, Lolie C / Gillio, Alfred / Madden, Lisa / Knutsen, Alan / Shah, Ami J / DeSantes, Kenneth / Barnum, Jessie / Broglie, Larisa / Joshi, Avni Y / Kleiner, Gary / Dara, Jasmeen / Prockop, Susan / Martinez, Caridad / Mousallem, Talal / Oved, Joseph / Burroughs, Lauri / Marsh, Rebecca / Torgerson, Troy R / Leiding, Jennifer W / Pai, Sung Yun / Kohn, Donald B / Pulsipher, Michael A / Griffith, Linda M / Notarangelo, Luigi D / Cowan, Morton J / Puck, Jennifer / Dvorak, Christopher C / Haddad, Elie

Clinical immunology (Orlando, Fla.)

2024 Volume 261, Page(s) 109942

Abstract: Severe combined immunodeficiency (SCID) is characterized by a severe deficiency in T cell numbers. We analyzed data collected (n = 307) for PHA-based T cell proliferation from the PIDTC SCID protocol 6901, using either a radioactive or flow cytometry ... ...

Abstract	Severe combined immunodeficiency (SCID) is characterized by a severe deficiency in T cell numbers. We analyzed data collected (n = 307) for PHA-based T cell proliferation from the PIDTC SCID protocol 6901, using either a radioactive or flow cytometry method. In comparing the two groups, a smaller number of the patients tested by flow cytometry had <10% of the lower limit of normal proliferation as compared to the radioactive method (p = 0.02). Further, in patients with CD3+ T cell counts between 51 and 300 cells/μL, there was a higher proliferative response with the PHA flow assay compared to the
MeSH term(s)	Infant, Newborn ; Humans ; Severe Combined Immunodeficiency/diagnosis ; Lymphopenia/diagnosis ; Neonatal Screening/methods ; T-Lymphocytes ; Cell Proliferation
Language	English
Publishing date	2024-02-15
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1459903-x
ISSN	1521-7035 ; 1521-6616
ISSN (online)	1521-7035
ISSN	1521-6616
DOI	10.1016/j.clim.2024.109942
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Article ; Online: Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD.

Leiding, Jennifer W / Arnold, Danielle E / Parikh, Suhag / Logan, Brent / Marsh, Rebecca A / Griffith, Linda M / Wu, Ruizhe / Kidd, Sharon / Mallhi, Kanwaldeep / Chellapandian, Deepak / Si Lim, Stephanie J / Grunebaum, Eyal / Falcone, E Liana / Murguia-Favela, Luis / Grossman, Debbi / Prasad, Vinod K / Heimall, Jennifer R / Touzot, Fabien / Burroughs, Lauri M /

Bleesing, Jack / Kapoor, Neena / Dara, Jasmeen / Williams, Olatundun / Kapadia, Malika / Oshrine, Benjamin R / Bednarski, Jeffrey J / Rayes, Ahmad / Chong, Hey / Cuvelier, Geoffrey D E / Forbes Satter, Lisa R / Martinez, Caridad / Vander Lugt, Mark T / Yu, Lolie C / Chandrakasan, Shanmuganathan / Joshi, Avni / Prockop, Susan E / Dávila Saldaña, Blachy J / Aquino, Victor / Broglie, Larisa A / Ebens, Christen L / Madden, Lisa M / DeSantes, Kenneth / Milner, Jordan / Rangarajan, Hemalatha G / Shah, Ami J / Gillio, Alfred P / Knutsen, Alan P / Miller, Holly K / Moore, Theodore B / Graham, Pamela / Bauchat, Andrea / Bunin, Nancy J / Teira, Pierre / Petrovic, Aleksandra / Chandra, Sharat / Abdel-Azim, Hisham / Dorsey, Morna J / Birbrayer, Olga / Cowan, Morton J / Dvorak, Christopher C / Haddad, Elie / Kohn, Donald B / Notarangelo, Luigi D / Pai, Sung-Yun / Puck, Jennifer M / Pulsipher, Michael A / Torgerson, Troy R / Malech, Harry L / Kang, Elizabeth M

Blood

2024 Volume 142, Issue 24, Page(s) 2105–2118

Abstract: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by life-threatening infections and inflammatory conditions. Hematopoietic cell transplantation (HCT) is the definitive treatment for CGD, but questions remain regarding ... ...

Abstract	Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by life-threatening infections and inflammatory conditions. Hematopoietic cell transplantation (HCT) is the definitive treatment for CGD, but questions remain regarding patient selection and impact of active disease on transplant outcomes. We performed a multi-institutional retrospective and prospective study of 391 patients with CGD treated either conventionally (non-HCT) enrolled from 2004 to 2018 or with HCT from 1996 to 2018. Median follow-up after HCT was 3.7 years with a 3-year overall survival of 82% and event-free survival of 69%. In a multivariate analysis, a Lansky/Karnofsky score <90 and use of HLA-mismatched donors negatively affected survival. Age, genotype, and oxidase status did not affect outcomes. Before HCT, patients had higher infection density, higher frequency of noninfectious lung and liver diseases, and more steroid use than conventionally treated patients; however, these issues did not adversely affect HCT survival. Presence of pre-HCT inflammatory conditions was associated with chronic graft-versus-host disease. Graft failure or receipt of a second HCT occurred in 17.6% of the patients and was associated with melphalan-based conditioning and/or early mixed chimerism. At 3 to 5 years after HCT, patients had improved growth and nutrition, resolved infections and inflammatory disease, and lower rates of antimicrobial prophylaxis or corticosteroid use compared with both their baseline and those of conventionally treated patients. HCT leads to durable resolution of CGD symptoms and lowers the burden of the disease. Patients with active infection or inflammation are candidates for transplants; HCT should be considered before the development of comorbidities that could affect performance status. This trial was registered at www.clinicaltrials.gov as #NCT02082353.
MeSH term(s)	Humans ; Granulomatous Disease, Chronic/genetics ; Granulomatous Disease, Chronic/therapy ; Retrospective Studies ; Prospective Studies ; Transplantation, Homologous ; Hematopoietic Stem Cell Transplantation/adverse effects ; Genotype ; Transplantation Conditioning/adverse effects ; Graft vs Host Disease/prevention & control
Language	English
Publishing date	2024-01-25
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2022019586
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Article ; Online: Long-Term Follow-Up after Reduced-Intensity Conditioning and Stem Cell Transplantation for Childhood Nonmalignant Disorders.

Madden, Lisa M / Hayashi, Robert J / Chan, Ka Wah / Pulsipher, Michael A / Douglas, Dorothea / Hale, Gregory A / Chaudhury, Sonali / Haut, Paul / Kasow, Kimberly A / Gilman, Andrew L / Murray, Lisa M / Shenoy, Shalini

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation

2016 Volume 22, Issue 8, Page(s) 1467–1472

Abstract: Reduced-intensity conditioning (RIC) before hematopoietic stem cell transplantation (HCT) in children could result in fewer complications during follow-up compared with myeloablative regimens. Hence, many RIC regimens are under investigation, but long- ... ...

Abstract	Reduced-intensity conditioning (RIC) before hematopoietic stem cell transplantation (HCT) in children could result in fewer complications during follow-up compared with myeloablative regimens. Hence, many RIC regimens are under investigation, but long-term follow-up is essential. We describe late follow-up beyond 2 years post-HCT in 43 children with nonmalignant disorders who underwent related or unrelated donor (56%) HCT on a multicenter study using a RIC regimen (alemtuzumab, fludarabine, and melphalan) followed by bone marrow (n = 30), peripheral blood (n = 3), or umbilical cord blood (n = 10) HCT for immune dysfunction, bone marrow failure, metabolic disorders, or hemoglobinopathy. Recipients (median age, 7.5 years; range, 3 to 26) underwent HCT 2 to 8 years (median, 3.1 years) before this report. Full donor (67%) or stable mixed chimerism (33%) was noted without late graft rejection. Five patients (12%) required systemic immunosuppression therapy (IST) beyond 2 years post-HCT for graft-versus-host disease (GVHD); 2 patients died 38 and 79 months later, whereas the others improved, enabling an IST wean. Overall, 17 complications were documented in 10 patients (23%). Complications not related to GVHD included hypothyroidism (n = 2), low grade neoplasms (n = 2), and delayed puberty (n = 1). One patient with GVHD had ovarian failure; all other postpubertal females resumed normal ovarian function. Twenty-seven of 28 school-age recipients were functioning at grade level. RIC HCT recipients thus had few regimen-related toxicities during long-term follow-up. However, objective long-term follow-up is still necessary to identify complications so timely intervention may be planned.
Language	English
Publishing date	2016-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	1474865-4
ISSN	1523-6536 ; 1083-8791
ISSN (online)	1523-6536
ISSN	1083-8791
DOI	10.1016/j.bbmt.2016.04.025
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Article ; Online: Response to: "Technology and Long-Term Health-Related Quality-of-Life Outcomes in Children with Nonmalignant Disorders after Reduced-Intensity Conditioning and Stem Cell Transplantation".

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation

2016 Volume 22, Issue 9, Page(s) 1734

Language	English
Publishing date	2016-09
Publishing country	United States
Document type	Letter
ZDB-ID	1474865-4
ISSN	1523-6536 ; 1083-8791
ISSN (online)	1523-6536
ISSN	1083-8791
DOI	10.1016/j.bbmt.2016.06.013
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Article ; Online: Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.

Thakar, Monica S / Logan, Brent R / Puck, Jennifer M / Dunn, Elizabeth A / Buckley, Rebecca H / Cowan, Morton J / O'Reilly, Richard J / Kapoor, Neena / Satter, Lisa Forbes / Pai, Sung-Yun / Heimall, Jennifer / Chandra, Sharat / Ebens, Christen L / Chellapandian, Deepak / Williams, Olatundun / Burroughs, Lauri M / Saldana, Blachy Davila / Rayes, Ahmad / Madden, Lisa M /

Chandrakasan, Shanmuganathan / Bednarski, Jeffrey J / DeSantes, Kenneth B / Cuvelier, Geoffrey D E / Teira, Pierre / Gillio, Alfred P / Eissa, Hesham / Knutsen, Alan P / Goldman, Frederick D / Aquino, Victor M / Shereck, Evan B / Moore, Theodore B / Caywood, Emi H / Lugt, Mark T Vander / Rozmus, Jacob / Broglie, Larisa / Yu, Lolie C / Shah, Ami J / Andolina, Jeffrey R / Liu, Xuerong / Parrott, Roberta E / Dara, Jasmeen / Prockop, Susan / Martinez, Caridad A / Kapadia, Malika / Jyonouchi, Soma C / Sullivan, Kathleen E / Bleesing, Jack J / Chaudhury, Sonali / Petrovic, Aleksandra / Keller, Michael D / Quigg, Troy C / Parikh, Suhag / Shenoy, Shalini / Seroogy, Christine / Rubin, Tamar / Decaluwe, Hélène / Routes, John M / Torgerson, Troy R / Leiding, Jennifer W / Pulsipher, Michael A / Kohn, Donald B / Griffith, Linda M / Haddad, Elie / Dvorak, Christopher C / Notarangelo, Luigi D

Lancet (London, England)

2023 Volume 402, Issue 10396, Page(s) 129–140

Abstract: Background: Severe combined immunodeficiency (SCID) is fatal unless durable adaptive immunity is established, most commonly through allogeneic haematopoietic cell transplantation (HCT). The Primary Immune Deficiency Treatment Consortium (PIDTC) explored ...

Abstract	Background: Severe combined immunodeficiency (SCID) is fatal unless durable adaptive immunity is established, most commonly through allogeneic haematopoietic cell transplantation (HCT). The Primary Immune Deficiency Treatment Consortium (PIDTC) explored factors affecting the survival of individuals with SCID over almost four decades, focusing on the effects of population-based newborn screening for SCID that was initiated in 2008 and expanded during 2010-18. Methods: We analysed transplantation-related data from children with SCID treated at 34 PIDTC sites in the USA and Canada, using the calendar time intervals 1982-89, 1990-99, 2000-09, and 2010-18. Categorical variables were compared by χ Findings: For 902 children with confirmed SCID, 5-year overall survival remained unchanged at 72%-73% for 28 years until 2010-18, when it increased to 87% (95% CI 82·1-90·6; n=268; p=0·0005). For children identified as having SCID by newborn screening since 2010, 5-year overall survival was 92·5% (95% CI 85·8-96·1), better than that of children identified by clinical illness or family history in the same interval (79·9% [69·5-87·0] and 85·4% [71·8-92·8], respectively [p=0·043]). Multivariable analysis demonstrated that the factors of active infection (hazard ratio [HR] 2·41, 95% CI 1·56-3·72; p<0·0001), age 3·5 months or older at HCT (2·12, 1·38-3·24; p=0·001), Black or African-American race (2·33, 1·56-3·46; p<0·0001), and certain SCID genotypes to be associated with lower overall survival during all time intervals. Moreover, after adjusting for several factors in this multivariable analysis, HCT after 2010 no longer conveyed a survival advantage over earlier time intervals studied (HR 0·73, 95% CI 0·43-1·26; p=0·097). This indicated that younger age and freedom from infections at HCT, both directly driven by newborn screening, were the main drivers for recent improvement in overall survival. Interpretation: Population-based newborn screening has facilitated the identification of infants with SCID early in life, in turn leading to prompt HCT while avoiding infections. Public health programmes worldwide can benefit from this definitive demonstration of the value of newborn screening for SCID. Funding: National Institute of Allergy and Infectious Diseases, Office of Rare Diseases Research, and National Center for Advancing Translational Sciences.
MeSH term(s)	Humans ; Infant, Newborn ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation/methods ; Longitudinal Studies ; Neonatal Screening ; Proportional Hazards Models ; Severe Combined Immunodeficiency/diagnosis ; Severe Combined Immunodeficiency/therapy ; Severe Combined Immunodeficiency/genetics
Language	English
Publishing date	2023-06-20
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	3306-6
ISSN	1474-547X ; 0023-7507 ; 0140-6736
ISSN (online)	1474-547X
ISSN	0023-7507 ; 0140-6736
DOI	10.1016/S0140-6736(23)00731-6
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Article ; Online: Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.

Cuvelier, Geoffrey D E / Logan, Brent R / Prockop, Susan E / Buckley, Rebecca H / Kuo, Caroline Y / Griffith, Linda M / Liu, Xuerong / Yip, Alison / Hershfield, Michael S / Ayoub, Paul G / Moore, Theodore B / Dorsey, Morna J / O'Reilly, Richard J / Kapoor, Neena / Pai, Sung-Yun / Kapadia, Malika / Ebens, Christen L / Forbes Satter, Lisa R / Burroughs, Lauri M /

Petrovic, Aleksandra / Chellapandian, Deepak / Heimall, Jennifer / Shyr, David C / Rayes, Ahmad / Bednarski, Jeffrey J / Chandra, Sharat / Chandrakasan, Shanmuganathan / Gillio, Alfred P / Madden, Lisa / Quigg, Troy C / Caywood, Emi H / Dávila Saldaña, Blachy J / DeSantes, Kenneth / Eissa, Hesham / Goldman, Frederick D / Rozmus, Jacob / Shah, Ami J / Vander Lugt, Mark T / Thakar, Monica S / Parrott, Roberta E / Martinez, Caridad / Leiding, Jennifer W / Torgerson, Troy R / Pulsipher, Michael A / Notarangelo, Luigi D / Cowan, Morton J / Dvorak, Christopher C / Haddad, Elie / Puck, Jennifer M / Kohn, Donald B

Blood

2022 Volume 140, Issue 7, Page(s) 685–705

Abstract: Adenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT), hematopoietic cell transplant (HCT), and gene therapy (GT). We evaluated 131 patients with ADA- ... ...

Abstract	Adenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT), hematopoietic cell transplant (HCT), and gene therapy (GT). We evaluated 131 patients with ADA-SCID diagnosed between 1982 and 2017 who were enrolled in the Primary Immune Deficiency Treatment Consortium SCID studies. Baseline clinical, immunologic, genetic characteristics, and treatment outcomes were analyzed. First definitive cellular therapy (FDCT) included 56 receiving HCT without preceding ERT (HCT); 31 HCT preceded by ERT (ERT-HCT); and 33 GT preceded by ERT (ERT-GT). Five-year event-free survival (EFS, alive, no need for further ERT or cellular therapy) was 49.5% (HCT), 73% (ERT-HCT), and 75.3% (ERT-GT; P < .01). Overall survival (OS) at 5 years after FDCT was 72.5% (HCT), 79.6% (ERT-HCT), and 100% (ERT-GT; P = .01). Five-year OS was superior for patients undergoing HCT at <3.5 months of age (91.6% vs 68% if ≥3.5 months, P = .02). Active infection at the time of HCT (regardless of ERT) decreased 5-year EFS (33.1% vs 68.2%, P < .01) and OS (64.7% vs 82.3%, P = .02). Five-year EFS (90.5%) and OS (100%) were best for matched sibling and matched family donors (MSD/MFD). For patients treated after the year 2000 and without active infection at the time of FDCT, no difference in 5-year EFS or OS was found between HCT using a variety of transplant approaches and ERT-GT. This suggests alternative donor HCT may be considered when MSD/MFD HCT and GT are not available, particularly when newborn screening identifies patients with ADA-SCID soon after birth and before the onset of infections. This trial was registered at www.clinicaltrials.gov as #NCT01186913 and #NCT01346150.
MeSH term(s)	Adenosine Deaminase ; Agammaglobulinemia/genetics ; Child, Preschool ; Hematopoietic Stem Cell Transplantation ; Humans ; Infant ; Infant, Newborn ; Severe Combined Immunodeficiency/genetics ; Severe Combined Immunodeficiency/therapy
Chemical Substances	Adenosine Deaminase (EC 3.5.4.4)
Language	English
Publishing date	2022-06-03
Publishing country	United States
Document type	Clinical Trial ; Journal Article
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2022016196
Database	MEDical Literature Analysis and Retrieval System OnLINE

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