[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"telomere-biology-disorder\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:telomere-biology-disorder":30},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,47],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100330256","phase-2-alphabeta-tcd-hct-in-patients-with-inherited-bmf-disorders-100330256",false,"NCT03579875","Alpha\u002FBeta TCD HCT in Patients With Inherited BMF Disorders","MT2017-17:T Cell Receptor Alpha\u002FBeta T Cell Depleted Hematopoietic Cell Transplantation in Patients With Inherited Bone Marrow Failure (BMF) Disorders","Patient Selection:\n\nInclusion Criteria:\n\nFor FA patients:\n\n* Diagnosis of Fanconi anemia\n\n  * Age \\\u003C65 years of age\n* Has one of the following risk factors:\n\n  * Severe aplastic anemia (SAA)\n  * Myelodysplastic features\n  * High risk genotype\n  * Immunodeficiency associated with history of recurrent infections\n* Karnofsky performance status ≥ 70% if ≥ 16 years of age or Lansky play score ≥ 50% for patients \\\u003C16 years of age\n\n  * Adequate pulmonary, cardiac and liver function\n  * Voluntary written consent (minor assent if appropriate) prior to the performance of any study related procedures not part of standard medical care\n\nFor TBD patients:\n\n• Diagnosis of TBD\n\n* Age \\\u003C70 years of age\n* Has one of the following risk factors:\n* Severe aplastic anemia (SAA)\n* Myelodysplastic features\n* Karnofsky performance status ≥ 70% if ≥ 16 years of age or Lansky play score\n\n  ≥ 50% for patients \\\u003C16 years of age\n* Adequate pulmonary, cardiac and liver function\n* Voluntary written consent (minor assent if appropriate) prior to the performance of any study related procedures not part of standard medical care\n\nExclusion Criteria:\n\n* Pregnant or breastfeeding as the treatment used in this study are Pregnancy Category D. Females of childbearing potential must have a negative pregnancy test (serum or urine) within 14 days of study registration\n* Active, uncontrolled infection within 1 week prior to starting study therapy\n* Malignant solid tumor cancer within previous 2 years\n\nDonor Selection (Inclusion Criteria): meets one of the following match criteria:\n\n* an HLA-A, B, DRB1 matched sibling donor (matched sibling)\n* an HLA-A, B, DRB1 matched related donor (other than sibling)\n* a related donor mismatched at 1 HLA-A, B, C and DRB1 antigen\n* 7-8\u002F8 HLA-A,B,C,DRB1 allele matched unrelated donor per current institutional guidelines Patients and donors are typed for HLA-A and B using serological or molecular techniques and for DRB1 using high resolution molecular typing. If a donor has been selected on the basis of HLA-A, B, C and DRB1 typing as above, preference will be made for donors matched at the HLA-C locus.\n* Body weight of at least 40 kilograms and at least 12 years of age\n* Willing and able to undergo mobilized peripheral blood apheresis\n* In general good health as determined by the medical provider\n* Adequate organ function defined as:\n\n  * Hematologic: hemoglobin, WBC, platelet within 10% of upper and lower limit of normal range of test (gender based for hemoglobin)\n  * Hepatic: ALT \\\u003C 2 x upper limit of normal\n  * Renal: serum creatinine \\\u003C 1.8 mg\u002Fdl\n* Performance of a donor infectious disease screen panel including CMV Antibody, Hepatitis B Surface Antigen, Hepatitis B Core Antibody, Hepatitis C Antibody, HIV 1\u002F2 Antibody, HTLVA 1\u002F2 Antibody, Treponema, and Trypanosoma Cruzi (T. Cruzi) plus HBV, HCV, WNV, HIV by nucleic acid testing (NAT); and screening for evidence of and risks factors for infection with Zika virus, or per current standard institutional donor screen - must be negative for HIV and active hepatitis B\n* Not pregnant - females of childbearing potential must have a negative pregnancy test within 7 days of mobilization start\n* Voluntary written consent (parent\u002Fguardian and minor assent, if \\\u003C 18 years) prior to the performance of any research related procedure","ALL","65 Years",{"count":19,"type":20},48,"ESTIMATED","INTERVENTIONAL",[23],"PHASE2","This is a phase II trial of T cell receptor alpha\u002Fbeta depletion (α\u002Fβ TCD) peripheral blood stem cell (PBSC) transplantation in patients with inherited bone marrow failure (BMF) disorders to eliminate the need for routine graft-versus-host disease (GVHD) immune suppression leading to earlier immune recovery and potentially a reduction in the risk of severe infections after transplantation.",[26,27,28,29,30,31,32,33],"Fanconi Anemia","Severe Aplastic Anemia","Myelodysplastic Syndromes","T Cell Receptor Alpha\u002FBeta Depletion","Telomere Biology Disorder","Bone Marrow Failure","Dyskeratosis Congenita","Telomere Biology Disorders","RECRUITING","2026-01-29",{"date":37,"type":38},"2026-01-30","ACTUAL",{"date":40,"type":38},"2018-11-13",{"date":42,"type":20},"2029-01-05",{"name":44,"class":45},"Masonic Cancer Center, University of Minnesota","OTHER",1,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":51,"acronym":4,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":16,"minAge":53,"maxAge":54,"enrollmentInfo":55,"targetDuration":4,"studyType":21,"phases":57,"briefSummary":58,"conditions":59,"keywords":66,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":68,"lastUpdatePostDateStruct":69,"startDateStruct":71,"completionDateStruct":73,"leadSponsor":75,"locationsCount":46},"100380322","phase-2-regenerative-medicine-to-restore-hematopoiesis-and-immune-function-in-immunodeficiencies-and-inherited-bone-marrow-failures-100380322","NCT04232085","Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures","Inclusion Criteria\n\nCohort A:\n\nPrimary Immune Deficiencies with indication for HCT:\n\n* Chronic granulomatous disease (CGD)\n* Wiskott-Aldrich syndrome (WAS)\n* Hyper-IgM syndrome\n* Common variable immunodeficiency (CVID)\n* Leukocyte adhesion deficiency-1 (LAD-1)\n* Severe Combined Immunodeficiency (SCID)\n* CTLA-4 deficiency\n* CARD9 deficiency\n* DOCK8 deficiency\n\nImmune Dysregulatory Syndromes:\n\n* Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome\n* Hemophagocytic lymphohistiocytosis (HLH) or related disorder with indication for transplant\n* CAEBV: Patients with chronic EBV infection (CAEBV) with indication for BMT:\n\nInherited Bone marrow failure disorders\n\n* Congenital amegakaryocytic thrombocytopenia (CAMT)\n* Diamond Blackfan anemia (DBA)\n* Shwachman Diamond Syndrome (SDS)\n* Thrombocytopenia Absent Radii (TAR)\n* Glanzmans thrombasthenia (GT)\n* Kostmann syndrome\n* Other indications and\u002For other PID, IDS, and IBMFS diagnoses as deemed appropriate by the PI.\n\nCohort B: Short telomere syndrome\n\nCohort C: Confirmed diagnosis of Fanconi anemia or non-Fanconi DNA-dsb repair disorders\n\n* Fanconi anemia\n* Non-Fanconi DNA-dsb repair disorders\n* Cerunnos-XRCC4-like factor deficiency (XLF or NHEJ1)\n* DNA ligase IV deficiency (LIG4)\n* Nijmegen breakage syndrome (NBS)\n* Increased DNA breakage after exposure of patient cells to DNA cross-linking agents such as diepoxybutane or mitomycin C and germline mutation(s) in an identified Fanconi pathway gene.\n\nAvailable donor as follows:\n\n* Fully HLA matched sibling or other first-degree family member.\n* Fully HLA matched unrelated 10\u002F10 donor using high-resolution DNA-based typing at the following genetic loci: HLA-A, -B, -C, DRB1, and DQB1.\n* Mismatched unrelated donor at 8 or 9\u002F10 alleles, using high-resolution typing as above.\n* HLA-haploidentical family members of any degree who match at least one allele of each of the following genetic loci: HLA-A, -B, -C, DRB1, and DQB1. A minimum match of 5\u002F10 is therefore required, and will be considered sufficient evidence that the donor and recipient share one HLA haplotype.\n* The patient and\u002For legal guardian must sign informed consent for BMT.\n* Patients with adequate organ function as measured by\n* Cardiac: Left ventricular ejection fraction (LVEF) at rest must be ≥ 35%. For patients aged \\\u003C13 years, shortening fraction (SF) \\> 25% by echocardiogram or LVEF by MUGA may be used.\n* Hepatic: Bilirubin ≤ 3.0 mg\u002FdL; and ALT, AST, and Alkaline Phosphatase \\\u003C 5 x ULN.\n* Renal: Serum creatinine within normal range for age, or if serum creatinine outside normal range for age, then renal function (creatinine clearance or GFR) \\> 40 mL\u002Fmin\u002F1.73m2.\n* Pulmonary: PFT with FEV1 and FVC \\>\u002F= 50% of normal and DLCO corrected for Hgb \\>\u002F= 40% of normal. Patients unable to undergo PFTs should have stable resp status with SaO2 \\>90% on a max of 2L\u002Fmin supplemental O2.\n* Karnofsky or Lansky performance status ≥70%\n* Females and males of childbearing potential must agree to practice 2 effective methods of contraception at the same time, or agree to abstinence.\n\nExclusion criteria\n\n* Patients will not be excluded on the basis of sex, racial or ethnic background.\n* Positive leukocytotoxic crossmatch.\n* Prior allogeneic stem cell transplant.\n* Uncontrolled bacterial, viral, or fungal infection at the time of enrollment. Uncontrolled is defined as currently taking medication and with progression or no clinical improvement on adequate medical treatment. The investigators recognize that patients with CAEBV may have ongoing EBV viremia at the time of initiating pre-transplant therapy, but other patients should have no uncontrolled bacterial, viral, or fungal infections.\n* Diagnosis of idiopathic aplastic anemia\n* Seropositivity for the human immunodeficiency virus (HIV)\n* Active Hepatitis B or C determined by serology and\u002For NAT\n* Female patients who are diagnosed as pregnant by beta bHCG testing (per institutional practice) or who are breast-feeding.\n* Active malignancy or within the timeframe for significant concern for relapse of prior malignancy\n* For Cohort B and C: liver biopsy (if performed, not required) with moderate-severe fibrosis\u002Fcirrhosis\n\nDonor Eligibility\n\n* Donor must be medically, socially, and psychologically fit to donate\n* Bone marrow is the preferred graft source, however, PBSCs may be requested. In particular, PBSCs may be preferred for patients with active viral reactivations and\u002For for patients who would benefit from a higher count in the graft. Cord blood is not permitted.\n* First-degree relatives should be tested for degree of HLA match, CMV serology, ABO type, and complete blood count (CBC). An unrelated donor search should be initiated at the time the patient is referred for BMT.\n* Age ≥5 years\n* Donors must meet the selection criteria as defined by the Foundation for the Accreditation of Hematopoietic Cell Therapy (FACT).\n* Lack of recipient anti-donor HLA antibody in recipient\n* Note: In some instances, low level, non-cytotoxic HLA specific antibodies may be permissible if found to be at a level well below that detectable by flow cytometry. This will be decided on a case-by-case basis by the PI and one of the immunogenetics directors.\n* In inherited disorders, family members must be tested for carrier and disease status of the underlying disorders. In the event that family members are unaffected carriers, eligibility as donors will be decided upon by the PI on a case-by-case basis\n* In the event that two or more eligible donors are identified, the donor will be selected per institutional standards. Suggested criteria include the following:\n* Related is preferred over unrelated.\n* The potential donor that is youngest in age is preferred.\n* For CMV seronegative patients, a CMV seronegative donor is preferred. For CMV seropositive patients, a CMV seropositive donor is preferred.\n* Red blood cell compatibility, in order of preference:\n* RBC cross match compatible Minor ABO incompatibility, Major ABO incompatibility\n* If the patient is male, male donors are preferred.","4 Months","50 Years",{"count":56,"type":20},27,[23],"Phase II prospective trial to assess the rates of donor engraftment using reduced intensity conditioning (RIC) hematopoietic stem cell transplant (HSCT) and post-transplant cyclophosphamide (PTCy) for patients with primary immune deficiencies (PID), immune dysregulatory syndromes (IDS), inherited bone marrow failure syndromes (IBMFS), short telomere syndromes, Fanconi anemia, and non-Fanconi DNA double-strand break (DNA-dsb) repair disorder.",[60,61,31,62,26,63,64,32,30,65],"Primary Immune Deficiency Disorder","Immune Deficiency Disease","Short Telomere Length","Non Fanconi DNA-DSB Repair Disorder","Hoyeraal-Hreidarsson Syndrome","Short Telomere Syndrome",[67],"Bone Marrow Transplantation","2025-11-21",{"date":70,"type":38},"2025-11-28",{"date":72,"type":38},"2020-02-12",{"date":74,"type":20},"2028-12-31",{"name":76,"class":45},"Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins"]