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A G E N D a Cibmtr Working Committee for Primary Not for publication or presentation A G E N D A CIBMTR WORKING COMMITTEE FOR PRIMARY IMMUNE DEFICIENCIES, INBORN ERRORS OF METABOLISM AND OTHER NON-MALIGNANT MARROW DISORDERS Honolulu, Hawaii Thursday, February 18, 2016, 12:15 – 2:15 pm Co-Chair: Paolo Anderlini, MD, MD Anderson Cancer Center, Houston, TX; Telephone: 713-745-4367; E-mail: [email protected] Co-Chair: Neena Kapoor, MD, Children’s Hospital of Los Angeles, Los Angeles, CA; Telephone: 323-361-2546; E-mail: [email protected] Co-Chair: Jaap Jan Boelens, MD, PhD, University Medical Center Utrecht, Utrecht, Netherlands; Telephone: +31 8875 54003; E-mail: [email protected] Co-Chair: Vikram Mathews, MD, DM, MBBS, Christian Medical College Hospital, Vellore, India; Telephone: +011 91 416 228 2891; E-mail: [email protected] Scientific Director: Mary Eapen, MBBS, MS, CIBMTR Statistical Center, Milwaukee, WI; Telephone: 414-805-0700; E-mail: [email protected] Statistical Ruta Brazauskas, PhD, CIBMTR Statistical Center, Milwaukee, WI; Directors: Telephone: 414-456-8687; E-mail: [email protected] Soyoung Kim, PhD, CIBMTR Statistical Center, Milwaukee Telephone: 414-955-8271; E-mail: [email protected] 1. Introduction a. Minutes and Overview Plan from February 2015 meeting (Attachment 1) 2. Accrual summary (Attachment 2) 3. Presentations, published or submitted papers a. AA12-01 Ayas M, Eapen M, Le-Rademacher J, Carreras J, Abdel-Azim H, Alter BP, Anderlini P, Battiwalla M, Bierings M, Buchbinder DK, Bonfim C, Camitta BM, Fasth AL, Gale RP, Lee MA, Lund TC, Myers KC, Olsson RF, Page KM, Prestidge TD, Radhi M, Shah AJ, Schultz KR, Wirk B, Wagner JE, Deeg HJ. Second Allogeneic Hematopoietic Cell Transplantation for Patients with Fanconi Anemia and Bone Marrow Failure. Biol Blood Marrow Transplant 2015 Oct;21(10):1790-5. b. ID98-05 Orchard PJ, Fasth AL, Le Rademacher J, He W, Boelens JJ, Horwitz EM, Al-Seraihy A, Ayas M,Bonfim CM, Boulad F, Lund T, Buchbinder DK, Kapoor N, O'Brien TA, Perez MA, Veys PA,Eapen M. Hematopoietic stem cell transplantation for infantile osteopetrosis. Blood. 2015 Jul 9;126(2):270-6. c. ID09-02 Veys PA, Nanduri V, Baker KS, He W, Bandini G, Biondi A, Dalissier A, Davis JH, Eames GM,Egeler RM, Filipovich AH, Fischer A, Jürgens H, Krance R, Lanino E, Leung WH, Matthes S, Michel G, Orchard PJ, Pieczonka A, Ringdén O, Schlegel PG, Sirvent A, Vettenranta K, Eapen M. Haematopoietic stem cell transplantation for refractory Langerhans cell histiocytosis: outcome by intensity of conditioning. Br J Haematol. 2015 Jun;169(5):711-8. 1 Not for publication or presentation d. ID10-02 Gennery A et. al. International study on outcomes of hematopoietic stem cell transplant for DNA DSB repair defects. Submitted 4. Studies in progress (Attachment 3) a. ID11-01 Outcomes in allogeneic hematopoietic cell transplantation for adrenoleukodystrophy (P Orchard) Manuscript Preparation b. AA13-01 Correlation of levels of donor cell chimerism with hemoglobinopathy symptoms following allogeneic hematopoietic cell transplantation (A Abraham) Analysis c. AA13-02 Malignancies in patients with fanconi anemia (J Wagner) Data File Preparation d. ID12-01 Allogeneic hematopoietic cell transplantation for combined immunodeficiency and common variable immunodeficiency (G Cuvelier/G Guilcher/N Wright) Data Collection e. ID13-01 Second and subsequent hematopoietic cell transplants for congenital neutropenia/kostmann agranulocytosis (S Keogh/P Shaw/J Levine/J Connelly) Analysis f. NM14-01 An investigation of the long term neurological outcomes of Hematopoietic Stem Cell Transplant (HCT) in boys with X-linked Adrenoleukodystrophy (X-ALD) (R Wynn/J Boelens/P Orchard) Protocol Development g. NM14-02 Outcomes of allogeneic hematopoietic cell transplant in patients with Shwachman diamond syndrome (K Myers) Protocol Development h. NM15-01 Outcome of Allogeneic Hematopoietic Cell Transplant in Erythropoietic Porphyria (A Saad/H Abdel-Azim/J Bloomer) Protocol Development 5. Future/proposed studies a. PROP 1505-03/1511-25 Outcomes Of Allogeneic Stem Cell Transplantation In Patients (Above 18 Years Of Age Or Older) With Paroxysmal Nocturnal Hemoglobinuria (Pnh): A Cibmtr Analysis (S Ganguly/P Mehta) (Attachment 4) b. PROP 1510-18 Outcomes for adults with hemophagocytic lymphohistiocytosis requiring HSCT (BKN Tomlinson) (Attachment 5) c. PROP 1511-09 Clinical course and outcome of allogeneic hematopoietic stem cell transplantation in Glanzmann thrombasthenia (S Savasan) (Attachment 6) d. PROP 1511-13 Allogeneic Hematopoietic Cell Transplantation for Primary Immune Deficiencies: Current Patterns of Practice and Change over the last 10 years (R Marsh) (Attachment 7) f. PROP 1511-44 Pulmonary complications of hematopoietic cell transplantation in sickle cell disease (J Dill) (Attachment 8) g. PROP 1511-71 The effect of Conditioning Regimen on Clinical Outcomes of Allogeneic Hematopoietic Cell Transplantation in Severe Aplastic Anemia (N Bejanyan) (Attachment 9) h. PROP 1511-82 Second Allogeneic Hematopoietic Cell Transplantation (HCT) for Hemoglobin Disorders (NR Lalefar) (Attachment 10) i. PROP 1511-101 Evaluation of the impact of changing clinical profile, transplant conditioning regimens and stem cell source on clinical outcome in patients with Thalassemia major (V Mathews) (Attachment 11) j. PROP 1511-110 Unrelated donor marrow transplantation for children, adolescents and young adults with relapsed or refractory severe aplastic anemia (S Arnold) (Attachment 12) k. PROP 1511-131 Results of transplants from genetically-identical twin donors in persons with aplastic anaemia (RP Gale) (Attachment 13) l. PROP 1512-01 Non-interventional prospective study request proposal for severe aplastic anemia: a joint EBMT/CIBMTR proposals (J Marsh) (Attachment 14) 2 Not for publication or presentation Dropped proposed studies a. PROP 1509-01 Review of Allogenic Stem Cell Transplantation for severe congenital Neutropenia: CIBMTR experience. Dropped due to overlap with ID13-01 7. Other Business 3 Not for publication or presentation Attachment 1 MINUTES AND OVERVIEW PLAN CIBMTR WORKING COMMITTEE FOR PRIMARY IMMUNE DEFICIENCIES, INBORN ERRORS OF METABOLISM AND OTHER NON-MALIGNANT MARROW DISORDERS San Diego, CA Friday, February 13, 2015, 12:15 – 2:15 pm Co-Chair: Harry Malech, MD, National Institute of Allergy and Infectious Diseases, Bethesda, MD; Telephone: 301-480-6916; Fax: 301-402-0789; E-mail: [email protected] Co-Chair: Shalini Shenoy, MD, Washington University/St. Louis Children’s Hospital, St. Louis, MO; Telephone: 314-454-6018; Fax: 314-454-2780; E-mail: [email protected] Co-Chair: Paolo Anderlini, MD, MD Anderson Cancer Center, Houston, TX; Telephone: 713-745-4367; Fax: 713-794-4902; E-mail: [email protected] Co-Chair: Neena Kapoor, MD, Children’s Hospital of Los Angeles, Los Angeles, CA; Telephone: 323-361-2546; Fax: 323-361-8068; E-mail: [email protected] Co-Chair: Jaap Jan Boelens, MD, PhD, University Medical Center Utrecht, Utrecht, Netherlands; Telephone: +31 8875 54003; Fax: +31 6140 26510; E-mail: [email protected] Co-Chair: Vikram Mathews, MD, DM, MBBS, Christian Medical College Hospital, Vellore, India; Telephone: +011 91 416 228 2891; Fax: +011 91 416 222 6449; E-mail: [email protected] Statisticians: Jennifer Le-Rademacher, PhD, CIBMTR Statistical Center, Milwaukee, WI; Telephone: 414-955-4849; Fax: 414-955-6513; E-mail: [email protected] Wensheng He, MS, CIBMTR Statistical Center, Milwaukee, WI; Telephone: 414-805-0670; Fax: 414-805-0714; E-mail: [email protected] Scientific Director: Mary Eapen, MBBS, MS, CIBMTR Statistical Center, Milwaukee, WI; Telephone: 414-805-0700; Fax: 414-805-0714; E-mail: [email protected] 1. Introduction The CIBMTR Working Committee for Primary Immune Deficiencies, Inborn Errors of Metabolism and other Non-Malignant Disorders met on Friday, February 13, 2015 at 12:15 pm. Minutes from the 2014 Tandem meeting in Grapevine, TX were approved. Dr. Kapoor welcomed the audience and introduced the working committee leadership. Drs. Malech and Shenoy were acknowledged for their efforts for the past 5 years. Dr. Malech reviewed the CIBMTR guidelines for assigning priority/scientific merit for study proposals, and rules of authorship. 2. Accrual Summary The accrual tables were referenced for review but not formally presented. 3. Presentations, published or submitted papers Publications for year 2014 were briefly reviewed. The committee had 3 publications and 1 manuscript is under review. These are listed below: 4 Not for publication or presentation Attachment 1 a . AA10-02 Kim SY, Le Rademacher J, Antin JH, Anderlini P, Ayas M, Battiwalla M, Carreras J, Kurtzberg J, Nakamura R, Eapen M, Deeg HJ. Myelodysplastic syndrome evolving from aplastic anemia treated with immunosuppressive therapy: efficacy of hematopoietic stem cell transplantation. Haematologica 2014 Dec;99(12):1868-75. b . ID11-02 Lund TC, Cathey SS, Miller WP, Eapen M, Andreansky M, Dvorak CC, Davis JH, Dalal JD, Devine SM, Eames GM, Ferguson WS, Giller RH, He W, Kurtzberg J, Krance R, Katsanis E, Lewis VA, Sahdev I, Orchard PJ. Outcomes after hematopoietic stem cell transplant for children with I-cell disease. Biol Blood Marrow Transplant 2014 Nov;20(11):1847-51. c . ID99-02 Veys PA, Nanduri V, Baker KS, He W, Bandini G, Biondi A, Dalissier A, Davis JH, Eames GM, Egeler RM, Filipovich AH, Fischer A, Jürgens H, Krance R, Lanino E, Leung WH, Matthes S, Michel G , Orchard PJ, Pieczonka A, Ringdén O, Schlegel PG, Sirvent A, Vettenranta K, Eapen M. Hematopoietic Stem Cell Transplantation for Refractory Langerhans Cell Histiocytosis: Outcome by Intensity of Conditioning. B J Haematol (In press; 2015). Presented at the 30th Annual Meeting of the Histiocyte Society, Toronto, Canada. October 2014. Awarded the President's prize (The Nesbit award) for the best clinical presentation. d. ID98-05 Orchard PJ, Fasth A, Le Rademacher J, He W, Horwitz E, Boelens JJ, Ayas MF, Al-Seraihy A, Buchbinder D, Bonfim C, Boulad F, O’Brien T, Kapoor N, Diaz Perez MD, Veys P, Eapen M. Hematopoietic stem cell transplantation for osteopetrosis. Submitted. 4. S tudies in progress a . ID10-02 Outcome of HCT for DNA repair disorders (A Gennery).
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