[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"inherited-metabolic-disorders-imd\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:inherited-metabolic-disorders-imd":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,74],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":31,"overallStatus":61,"whyStopped":4,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":66,"completionDateStruct":68,"leadSponsor":70,"locationsCount":73},"100403058","data-collection-study-of-patients-with-non-malignant-disorders-undergoing-ucbt-bmt-or-pbsct-with-ric-100403058",false,"NCT04528355","Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC","A Prospective Outcomes Study of Pediatric and Adult Patients With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation With a Reduced-Intensity Conditioning Regimen (PRO-RIC)","PRO-RIC","Inclusion Criteria:\n\n1. Patient, parent, or legal guardian must have given written informed consent.\n2. Patient must be 2 months to 60 years (inclusive) of age at time of consent for all diagnoses.\n3. Patients should have a non-malignant disorder amenable to treatment by stem cell transplantation, including but not limited to the following:\n\n   A. Primary Immunodeficiency Syndromes\n   * Severe Combined Immune Deficiency (SCID) with NK cell activity\n   * Omenn Syndrome\n   * Bare Lymphocyte Syndrome (BLS)\n   * Combined Immune Deficiency (CID) syndromes\n   * Combined Variable Immune Deficiency (CVID) syndrome\n   * Wiskott-Aldrich Syndrome\n   * Leukocyte adhesion deficiency\n   * Chronic granulomatous disease (CGD)\n   * Hyper IgM (XHIM) syndrome\n   * IPEX syndrome\n   * Chediak-Higashi Syndrome\n   * Autoimmune Lymphoproliferative Syndrome (ALPS)\n   * Hemophagocytic Lymphohistiocytosis (HLH) syndromes\n   * Lymphocyte Signaling defects\n\n   B. Congenital Bone Marrow Failure Syndromes\n   * Congenital Amegakaryocytic Thrombocytopenia (CAMT)\n   * Osteopetrosis\n\n   C. Inherited Metabolic Disorders (IMD)\n   * Mucopolysaccharidoses\n\n     * Hurler syndrome (MPS I)\n     * Hunter syndrome (MPS II)\n   * Leukodystrophies\n\n     * Krabbe Disease, also known as globoid cell leukodystrophy\n     * Metachromatic leukodystrophy (MLD)\n     * X-linked adrenoleukodystrophy (ALD)\n   * Other inherited metabolic disorders\n\n     * Alpha Mannosidosis\n     * Gaucher Disease\n     * Other inheritable metabolic diseases where HSCT may be beneficial\n\n   D. Hereditary Anemias\n   * Thalassemia major\n   * Sickle cell disease (SCD)\n   * Diamond Blackfan Anemia (DBA)\n\n   E. Inflammatory Conditions\n   * Crohn's Disease or Inflammatory Bowel Disease\n   * IPEX or IPEX-like Syndromes\n   * Rheumatoid Arthritis\n   * Other inflammatory conditions where HSCT may be beneficial\n4. Subjects receive either umbilical cord blood, bone marrow, or peripheral blood stem cell transplant with an alemtuzumab, melphalan, thiotepa, fludarabine and hydroxyurea-based, reduced-intensity conditioning regimen, according to clinical practice at UPMC Children's Hospital of Pittsburgh.\n\nThere are no exclusion criteria.","ALL","2 Months","60 Years",{"count":21,"type":22},50,"ESTIMATED","OBSERVATIONAL","This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft failure and to aid in immune reconstitution following hematopoietic stem cell transplantation.",[26,27,28,29,30],"Primary Immunodeficiency (PID)","Congenital Bone Marrow Failure Syndromes","Inherited Metabolic Disorders (IMD)","Hereditary Anemias","Inflammatory Conditions",[32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60],"Severe Combined Immune Deficiency (SCID) with NK cell activity","Omenn Syndrome","Bare Lymphocyte Syndrome (BLS)","Combined Immune Deficiency (CID) syndromes","Wiskott-Aldrich Syndrome","Leukocyte adhesion deficiency","Chronic granulomatous disease (CGD)","Hyper IgM (XHIM) syndrome","IPEX syndrome","Chediak-Higashi Syndrome","Autoimmune Lymphoproliferative Syndrome (ALPS)","Hemophagocytic Lymphohistiocytosis (HLH) syndromes","Lymphocyte Signaling defects","Congenital Amegakaryocytic Thrombocytopenia (CAMT)","Osteopetrosis","Hurler syndrome (MPS I)","Hurler syndrome (MPS II)","Krabbe Disease, also known as Globoid Cell Leukodystrophy","Metachromatic leukodystrophy (MLD)","X-linked adrenoleukodystrophy (ALD)","Alpha Mannosidosis","Gaucher Disease","Thalassemia major","Sickle cell disease (SCD)","Diamond Blackfan Anemia (DBA)","Crohn's Disease","Inflammatory Bowel Disease","IPEX or IPEX-like Syndromes","Rheumatoid Arthritis","RECRUITING","2026-01-12",{"date":64,"type":65},"2026-01-13","ACTUAL",{"date":67,"type":65},"2020-08-20",{"date":69,"type":22},"2028-06-30",{"name":71,"class":72},"Paul Szabolcs","OTHER",1,{"id":75,"slug":76,"hasResults":11,"nctId":77,"briefTitle":78,"officialTitle":79,"acronym":80,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":82,"enrollmentInfo":83,"targetDuration":4,"studyType":85,"phases":86,"briefSummary":88,"conditions":89,"keywords":92,"overallStatus":61,"whyStopped":4,"lastUpdateSubmitDate":107,"lastUpdatePostDateStruct":108,"startDateStruct":110,"completionDateStruct":112,"leadSponsor":114,"locationsCount":73},"100206313","phase-2-reduced-intensity-conditioning-for-non-malignant-disorders-undergoing-ucbt-bmt-or-pbsct-100206313","NCT01962415","Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT","A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation","HSCT+RIC","Inclusion:\n\n1. A 4\u002F6, 5\u002F6 or 6\u002F6 HLA matched related or unrelated UCB unit available that will deliver a pre-cryopreservation total nucleated cell dose of ≥ 3 x 10e7 cells\u002Fkg, or double unit grafts, each cord blood unit delivering at least 2 x 10e7 cells\u002Fkg OR an 8 of 8 or 7 of 8 HLA allele level matched unrelated donor bone marrow or peripheral blood progenitor graft.\n2. Adequate organ function as measured by:\n\n   1. Creatinine ≤ 2.0 mg\u002FdL and creatinine clearance ≥ 50 mL\u002Fmin\u002F1.73 m2.\n   2. Hepatic transaminases (ALT\u002FAST) ≤ 4 x upper limit of normal (ULN).\n   3. Adequate cardiac function by echocardiogram or radionuclide scan (shortening fraction \\> 26% or ejection fraction \\> 40% or \\> 80% of normal value for age).\n   4. Pulmonary evaluation testing demonstrating CVC or FEV1\u002FFVC of ≥ 50% of predicted for age and\u002For resting pulse oximeter ≥ 92% on room air or clearance by the pediatric or adult pulmonologist. For adult patients DLCO (corrected for hemoglobin) should be ≥ 50% of predicted if the DLCO can be obtained.\n3. Written informed consent and\u002For assent according to FDA guidelines.\n4. Negative pregnancy test if pubertal and\u002For menstruating.\n5. HIV negative.\n6. A non-malignant disorder amenable to treatment by stem cell transplantation, including but not limited to:\n\n   1. Primary Immunodeficiency syndromes including but not limited to:\n\n      * Severe Combined Immune Deficiency (SCID) with NK cell activity\n      * Omenn Syndrome\n      * Bare Lymphocyte Syndrome (BLS)\n      * Combined Immune Deficiency (CID) syndromes\n      * Combined Variable Immune Deficiency (CVID) syndrome\n      * Wiskott-Aldrich Syndrome\n      * Leukocyte adhesion deficiency\n      * Chronic granulomatous disease (CGD)\n      * X-linked Hyper IgM (XHIM) syndrome\n      * IPEX syndrome\n      * Chediak - Higashi Syndrome\n      * Autoimmune Lymphoproliferative Syndrome (ALPS)\n      * Hemophagocytic Lymphohistiocytosis (HLH) syndromes\n      * Lymphocyte Signaling defects\n      * Other primary immune defects where hematopoietic stem cell transplantation may be beneficial\n   2. Congenital bone marrow failure syndromes including but not limited to:\n\n      * Dyskeratosis Congenita (DC)\n      * Congenital Amegakaryocytic Thrombocytopenia (CAMT)\n      * Osteopetrosis\n   3. Inherited Metabolic Disorders (IMD) including but not limited to:\n\n      * Mucopolysaccharidoses\n\n        * Hurler syndrome (MPS I)\n        * Hunter syndrome (MPS II)\n      * Leukodystrophies\n\n        * Krabbe Disease, also known as globoid cell leukodystrophy\n        * Metachromatic leukodystrophy (MLD)\n        * X-linked adrenoleukodystrophy (ALD)\n        * Hereditary diffuse leukoencephalopathy with spheroids (HDLS)\n      * Other inherited metabolic disorders\n\n        * alpha mannosidosis\n        * Gaucher Disease\n      * Other inheritable metabolic diseases where hematopoietic stem cell transplantation may be beneficial.\n   4. Hereditary anemias\n\n      * Thalassemia major\n      * Sickle cell disease (SCD) - patients with sickle disease must have one or more of the following:\n\n        * Overt or silent stroke\n        * Pain crises ≥ 2 episodes per year for past year\n        * One or more episodes of acute chest syndrome\n        * Osteonecrosis involving ≥ 1 joints\n        * Priapism\n      * Diamond Blackfan Anemia (DBA)\n      * Other congenital transfusion dependent anemias\n   5. Inflammatory Conditions\n\n      * Crohn's Disease\u002FInflammatory Bowel Disease\n\nExclusion:\n\n1. Allogeneic hematopoietic stem cell transplant within the previous 6 months.\n2. Any active malignancy or MDS.\n3. Severe acquired aplastic anemia.\n4. Uncontrolled bacterial, viral or fungal infection (currently taking medication and with progression of clinical symptoms).\n5. Pregnancy or nursing mother.\n6. Poorly controlled pulmonary hypertension.\n7. Any condition that precludes serial follow-up.","55 Years",{"count":84,"type":22},100,"INTERVENTIONAL",[87],"PHASE2","The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). After transplant, subjects will be followed for late effects and for ongoing graft success.",[26,27,28,29,30,90,91],"Systemic Juvenile Idiopathic Arthritis (sJIA)","Juvenile Rheumatoid Arthritis (JRA)",[93,33,34,35,94,36,37,38,95,40,96,42,43,44,97,45,46,98,47,99,100,101,50,51,102,53,54,55,56,57,58,103,104,105,106,90,91],"Severe Combined Immune Deficiency (SCID)","Combined Variable Immune Deficiency (CVID) syndrome","X-linked Hyper IgM (XHIM) syndrome","Chediak - Higashi Syndrome","Dyskeratosis Congenita (DC)","Mucopolysaccharidoses","Hunter syndrome (MPS II)","Leukodystrophies","Krabbe Disease","Alpha mannosidosis","Hematopoietic Stem Cell Transplant (HSCT)","Congenital transfusion dependent anemias","Globoid cell leukodystrophy","Hereditary diffuse leukoencephalopathy with spheroids (HDLS)","2025-12-08",{"date":109,"type":65},"2025-12-15",{"date":111,"type":65},"2014-02-04",{"date":113,"type":22},"2027-11",{"name":71,"class":72}]