[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"severe-combined-immunodeficiency\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:severe-combined-immunodeficiency":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,41,65,94],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":26,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":4,"leadSponsor":37,"locationsCount":40},"100062089","genetic-basis-of-immunodeficiency-100062089",false,"NCT00055172","Genetic Basis of Immunodeficiency","The Determination of Genetic Basis Of Immunodeficiency","* INCLUSION CRITERIA:\n\nIndex cases to be included are those with diminished numbers of T cells and\u002For NK cells and\u002For B cells or other immune cells or those who have normal numbers of T cell, B cells, NK cells and other immune cells but diminished function of one or more immune cells. Relatives of affected individuals may also be studied\n\n* Patients (index cases): 6 months of age and older\n* Siblings: 6 months of age and older\n* Non-sibling relatives (biological parent, aunt, uncle or grandparent): 18 years or older\n\nEXCLUSION CRITERIA:\n\n* Patients with a known diagnosis\n* Patients with a particular immunological phenotype that is not of interest to the research conducted under this study.\n* Pregnancy or lactation\n* Adults with current decisional impairment","ALL","6 Months","99 Years",{"count":20,"type":21},100,"ESTIMATED","OBSERVATIONAL","This study will examine the role of hereditary factors in different forms of severe combined immunodeficiency (SCID).\n\nPatients with immunodeficiencies may be eligible for this study. Candidates include:\n\n* Patients with diminished numbers of T cells or NK cells or both, or\n* Patients with normal T cell and NK cell numbers but diminished T cell, B cell, or NK cell function.\n\nRelatives of patients will also be studied.\n\nParticipants will have blood samples collected for genetic analysis in studies related to SCID at the National Institutes of Health and other institutions.",[25],"Severe Combined Immunodeficiency",[27,28,29],"Cytokines","Inherited Immunodeficiency","Natural History","RECRUITING","2026-06-17",{"date":33,"type":34},"2026-06-18","ACTUAL",{"date":36,"type":34},"2004-04-05",{"name":38,"class":39},"National Heart, Lung, and Blood Institute (NHLBI)","NIH",1,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":46,"acronym":4,"eligibilityCriteria":47,"healthyVolunteers":11,"sex":16,"minAge":48,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":49,"phases":4,"briefSummary":50,"conditions":51,"keywords":55,"overallStatus":58,"whyStopped":4,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":62,"locationsCount":4},"100572266","expanded-access-to-cd34-selection-utilizing-miltenyi-clinimacs-prodigy-for-patients-receiving-peripheral-blood-stem-cell-transplantations-and-stem-cell-boosts-100572266","NCT06731036","Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts","A Compassionate Release Protocol: Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts","Inclusion Criteria:\n\n* Patients over 1 month of age\n* The following category of patients is eligible for this protocol:\n\n  a. Patients undergoing allogeneic transplantation for the following indications:\n\n  i. Non-malignant disorders where graft versus host disease is detrimental:\n* Severe combined immune deficiency\n* Fanconi Anemia\n* Dyskeratosis Congenita\n* Sickle Cell Disease\n\nor\n\nb. Patients undergoing autologous transplantation intended for hematopoietic\u002Fimmunologic reconstitution\n\nor\n\nc. Patients with poor graft function defined as persistent cytopenia following stem cell transplant without evidence of recurrent disease\n\n* Subjects must not have more than one active malignancy at the time of enrollment (Subjects with a prior or concurrent malignancy whose natural history or treatment does not have the potential to interfere with the safety or efficacy assessment of the investigational regimen \\[as determined by the treating physician and approved by the PI\\] may be included).\n* Written informed consent obtained from the subject and the subject agrees to comply with all the study-related procedures.\n* Women of childbearing potential (WOCBP) must be using an adequate method of contraception to avoid pregnancy throughout participation at least 1 year after the stem cell infusion to minimize the risk of pregnancy. Prior to protocol enrollment, women of childbearing potential must be advised of the importance of avoiding pregnancy during trial participation and the potential risk factors for an unintentional pregnancy. WOCBP includes any woman who has experienced menarche and who has not undergone successful surgical sterilization (hysterectomy, bilateral tubal ligation, or bilateral oophorectomy) or who is not post-menopausal. Post-menopause is defined as:\n\n  1. Amenorrhea that has lasted for ≥ 12 consecutive months without another cause, or\n  2. For women with irregular menstrual periods who are taking hormone replacement therapy (HRT), a documented serum follicle-stimulating hormone (FSH) level of greater than 35 mIU\u002FmL.\n\n     * Males with female partners of child-bearing potential must agree to use physician-approved contraceptive methods (e.g., abstinence, condoms, vasectomy) throughout participation and should avoid conceiving children for 1 year following infusion of the stem cells.\n\nExclusion Criteria:\n\n* Patients with a fully HLA matched sibling donor\n* Patients with active graft versus host disease\n* Patient with uncontrollable transplant associated thrombotic microangiopathy\n* Patient not cleared by transplant provider to process\n* Donor unable to donate peripheral blood stem cells\n* Females or males of childbearing potential who are unwilling or unable to use an acceptable method to avoid pregnancy for the entire participation period and for at least 1 year after stem cell infusion.\n* Females who are known to be pregnant or breastfeeding.\n* Prisoners or subjects who are involuntarily incarcerated, or subjects who are compulsorily detained for treatment of either a psychiatric or physical illness.","1 Month","EXPANDED_ACCESS","Allogeneic stem cell transplantation (alloSCT) is utilized for various underlying diseases. AlloSCT is limited by graft versus host disease (GVHD), graft rejection, viral infections, and post-transplant lymphoproliferative disorders. To mitigate graft versus host disease, graft manipulation has been taking place with CD34+ selection to decrease T-cells entering into the patient, thus lowering the risk of GVHD.\n\nHistorically CD34+ manipulation has been performed under a humanitarian use device by utilizing the Miltenyi CliniMACs CD34 Reagent System. This was used for patients with AML in first remission. This approach has additionally been used for patients with sickle cell disease, immune deficiencies, and poor graft function with excellent efficiency. The purpose of this protocol is to create expanded access of CD34+ manipulation for various underlying diseases utilizing the Miltenyi CliniMACS Prodigy® device.",[25,52,53,54],"Fanconi Anemia","Dyskeratosis Congenita","Sickle Cell Disease",[56,57],"stem cell transplantation","graft manipulation","AVAILABLE","2026-02-16",{"date":61,"type":34},"2026-02-18",{"name":63,"class":64},"University of Florida","OTHER",{"id":66,"slug":67,"hasResults":11,"nctId":68,"briefTitle":69,"officialTitle":70,"acronym":4,"eligibilityCriteria":71,"healthyVolunteers":11,"sex":16,"minAge":72,"maxAge":4,"enrollmentInfo":73,"targetDuration":4,"studyType":75,"phases":76,"briefSummary":79,"conditions":80,"keywords":81,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":85,"lastUpdatePostDateStruct":86,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":40},"100327116","phase-1-autologous-gene-therapy-for-artemis-deficient-scid-100327116","NCT03538899","Autologous Gene Therapy for Artemis-Deficient SCID","Phase I\u002FII Safety and Efficacy Study of Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID) in Newly Diagnosed Patients Using Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Cells","Inclusion Criteria:\n\n* ≥2.0 months of age at initiation of busulfan conditioning\n* New diagnosis of typical or minimally leaky ART-SCID, as defined by the criteria below:\n* Artemis deficiency with bi-allelic pathogenic or likely pathogenic mutations in DCLRE1C; AND\n* CD3 count \\\u003C 50 autologous cells\u002FµL (typical ART-SCID) OR spontaneous maternal chimerism, OR CD3 count \\>50\u002FµL and \\\u003C300\u002FuL and with restricted T cell receptor Vb diversity; AND\n* CD45 cell response to mitogens (PHA) \\\u003C 50% of the lower limit of normal range for the lab (leaky ART-SCID).\n* No medically eligible HLA-identical sibling with a normal immune system who could serve as an allogeneic bone marrow donor (applies to newly diagnosed patients only).\n\nExclusion Criteria:\n\n* Presence of a medically eligible HLA-matched sibling\n* Evidence of HIV infection by polymerase chain reaction or p24 antigen testing.\n* Unable to tolerate general anesthesia and\u002For marrow harvest or insertion of central venous catheter.\n* Any one of liver function tests AST, ALT, gamma-glutamyl transpeptidase (GGT) \\>5X the upper limit of normal for lab and\u002For total bilirubin \\>2.0 mg\u002Fdl (not due to Gilbert's) at the time of planned initiation of busulfan conditioning unless the elevated LFTs are considered to be due to medication, a viral infection for which there is no treatment other than reconstituting T cell immunity, or maternal GVHD.\n* Presence of any severe medical conditions making a patient unsuitable for busulfan administration\n* Presence of a recognized second gene mutation that results in an autosomal dominant or recessive disorder intrinsic to hematopoietic cells and that could be treated by an allogeneic HCT.\n* Presence of a medical condition indicating that survival is predicted to be less than 4 months, such as the requirement for mechanical ventilation, severe failure of a major organ system, or evidence of a serious, progressive infection that is refractory to medical therapy.\n* A social situation indicating that the family may not be able to comply with protocol procedures and recommended medical care and follow-up.\n* Other conditions which in the opinion of the Principal Investigator and\u002For co-investigators, contra-indicate the infusion of transduced cells or study participation.","2 Months",{"count":74,"type":21},24,"INTERVENTIONAL",[77,78],"PHASE1","PHASE2","This study aims to determine if a new method can be used to treat Artemis-deficient Severe Combined Immunodeficiency (ART-SCID), a severe form of primary immunodeficiency caused by mutations in the DCLRE1C gene. This method involves transferring a normal copy of the DCLRE1C gene into stem cells of an affected patient. Participants will receive an infusion of stem cells transduced with a self-inactivating lentiviral vector that contains a normal copy of the DCLRE1C gene. Prior to the infusion they will receive sub-ablative, dose-targeted busulfan conditioning. The study will investigate if the procedure is safe, whether it can be done according to the methods described in the protocol, and whether the procedure will provide a normal immune system for the patient. A total of 24 newly diagnosed patients will be enrolled at the University of California San Francisco in this single-site trial and will be followed for 15 years post-infusion. It is hoped that this type of gene transfer may offer improved outcomes for ART-SCID patients who lack a brother or sister who can be used as a donor for stem cell transplantation or who have failed to develop a functioning immune system after a previous stem cell transplant.",[25],[82,83,84],"Artemis-deficient Severe Combined Immunodeficiency","gene therapy","autologous stem cell transplant","2026-02-11",{"date":87,"type":34},"2026-02-13",{"date":89,"type":34},"2018-05-31",{"date":91,"type":21},"2038-06",{"name":93,"class":64},"University of California, San Francisco",{"id":95,"slug":96,"hasResults":11,"nctId":97,"briefTitle":98,"officialTitle":99,"acronym":4,"eligibilityCriteria":100,"healthyVolunteers":101,"sex":16,"minAge":102,"maxAge":4,"enrollmentInfo":103,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":105,"conditions":106,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":107,"lastUpdatePostDateStruct":108,"startDateStruct":110,"completionDateStruct":112,"leadSponsor":114,"locationsCount":40},"100489284","the-experience-of-screening-for-scid-100489284","NCT05651113","The Experience of Screening for SCID","Exploring Parents' and Health Professionals' Experiences of Screening for Severe Combined Immunodeficiency","Inclusion Criteria:\n\nParticipants must be at least 18 years of age. Participants must be able to understand the purpose and implications of the research study.\n\nWhere participants are speakers of languages other than English, the research team will arrange a translator.\n\nExclusion Criteria:\n\nWhere a child dies after recruitment to the project the team will sensitively check whether the parents wish to continue participation to enable their views to be included.",true,"18 Years",{"count":104,"type":21},90,"This project will evaluate the impact of including Severe Combined Immunodeficiency into the newborn bloodspot screening panel. It will recruit parents and health professionals primarily from the sites where this new form of screening is being trialled well as additional sites where clinicians will be involved in the care of these babies and comparator groups are needed.\n\nThe proposed work will consist of two work packages. The first, a mixed-methods study conducted with families from the point of screening information being returned through to the child's fifth birthday. The second, a qualitative interview study conducted with health professionals during the clinical evaluation phase of the national pilot programme.",[25],"2022-12-06",{"date":109,"type":34},"2022-12-14",{"date":111,"type":34},"2022-11-09",{"date":113,"type":21},"2029-03-31",{"name":115,"class":64},"King's College London"]