[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"dyskeratosis-congenita\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:dyskeratosis-congenita":33},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,8,0,[8,92,125,158,182,224,245,272],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":69,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":84,"completionDateStruct":86,"leadSponsor":88,"locationsCount":91},"100289631","familial-investigations-of-childhood-cancer-predisposition-100289631",false,"NCT03050268","Familial Investigations of Childhood Cancer Predisposition","SJFAMILY","NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown below, you may enroll regardless of the results of your clinical genetic testing.\n\nDEFINITION OF FAMILIAR CANCER FOR THIS PROTOCOL:\n\nIn this protocol, the definition of \"Familial Cancer\" is met if any of the following is present:\n\n* An individual with a history of cancer diagnosed under 26 years of age who has at least one first, second or third degree relative with a history of cancer diagnosed under 51 years of age; OR\n* An individual who has been diagnosed with more than one cancer, at least one of which was diagnosed under 26 years of age; OR\n* An individual with a clinical or molecular diagnosis of a known cancer predisposition syndrome; OR\n* An individual with a congenital cancer diagnosed before 6 months of age; OR\n* An individual with a rare pediatric cancer or tumor diagnosed before 26 years of age\n\nº Excluding human papilloma virus-associated cervical cancer and non-melanoma skin cancer occurring in adults.\n\nINCLUSION CRITERIA:\n\n* An individual who meets this protocol's definition of \"Familial Cancer,\" as above.\n* Biologic relatives of an individual meeting this protocol's definition of \"Familial Cancer,\" who are either affected or unaffected by cancer.\n\nEXCLUSION CRITERIA:\n\n* An inability or unwillingness of the research participant or his\u002Fher legally authorized representative (LAR) to provide written informed consent.\n* The participant has received allogeneic bone marrow transplantation and has NO pre-transplant germline (cancer-unaffected) DNA available AND is unwilling to provide a skin sample.","ALL",{"count":18,"type":19},1500,"ESTIMATED","OBSERVATIONAL","NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing.\n\nWhile it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition.\n\nThe purpose of this protocol is to identify novel cancer predisposing genes and\u002For genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer.\n\nPRIMARY OBJECTIVE:\n\n* Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members.\n\nSECONDARY OBJECTIVE:\n\n* Identify novel cancer predisposing genes and\u002For genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.",[23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68],"Acute Leukemia","Adenomatous Polyposis","Adrenocortical Carcinoma","AML","BAP1 Tumor Predisposition Syndrome","Carney Complex","Choroid Plexus Carcinoma","Constitutional Mismatch Repair Deficiency Syndrome","Diamond-Blackfan Anemia","DICER1 Syndrome","Dyskeratosis Congenita","Emberger Syndrome","Familial Acute Myeloid Leukemia","Familial Adenomatous Polyposis","Fanconi Anemia","Familial Cancer","Familial Wilms Tumor","Familial Neuroblastoma","GIST","Hereditary Breast and Ovarian Cancer","Hereditary Paraganglioma-Pheochromocytoma Syndrome","Hodgkin Lymphoma","Juvenile Polyposis","Li-Fraumeni Syndrome","Lynch Syndrome","MDS","Melanoma Syndrome","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Neuroblastoma","Neurofibromatosis Type 1","Neurofibromatosis Type II","Nevoid Basal Cell Carcinoma Syndrome","Non Hodgkin Lymphoma","Noonan Syndrome and Other Rasopathy","Overgrowth Syndromes","Pancreatic Cancer","Peutz-Jeghers Syndrome","Pheochromocytoma\u002FParaganglioma","PTEN Hamartoma Tumor Syndrome","Retinoblastoma","Rhabdoid Tumor Predisposition Syndrome","Rhabdomyosarcoma","Rothmund-Thomson Syndrome","Tuberous Sclerosis","Von Hippel-Lindau Disease",[70,71,72,73,74,75,76,77,78],"Familial cancer","Genetic predisposition","Heritable disease","Cancer risk","Genome analysis","Genetic modifiers","Next generation sequencing (NGS)","Genetic counseling","DNA","RECRUITING","2026-06-15",{"date":82,"type":83},"2026-06-17","ACTUAL",{"date":85,"type":83},"2017-04-06",{"date":87,"type":19},"2037-03-31",{"name":89,"class":90},"St. Jude Children's Research Hospital","OTHER",1,{"id":93,"slug":94,"hasResults":11,"nctId":95,"briefTitle":96,"officialTitle":97,"acronym":4,"eligibilityCriteria":98,"healthyVolunteers":99,"sex":16,"minAge":100,"maxAge":101,"enrollmentInfo":102,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":104,"conditions":105,"keywords":109,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":116,"lastUpdatePostDateStruct":117,"startDateStruct":119,"completionDateStruct":4,"leadSponsor":121,"locationsCount":124},"100060136","cancer-in-inherited-bone-marrow-failure-syndromes-100060136","NCT00027274","Cancer in Inherited Bone Marrow Failure Syndromes","Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study","* INCLUSION CRITERIA:\n\nThe participants will be affected by an IBMFS, or be members of a family with an IBMFS, and be at risk of being affected or carriers of the syndrome. Except for the rare X-linked recessive disorder (e.g. some dyskeratosis congenita patients), there should be equal numbers of male and female probands and family members. These IBMFS have been reported in most racial and ethnic groups, and thus all such groups will be included. The age range will be from birth to old age (grandparents of probands). The majority of the probands will be children (10-20% will be adults), and their parents and grandparents will be adults. All racial\u002Fethnic groups are eligible.\n\nINCLUSION CRITERIA for Patients:\n\n* Fanconi s anemia.\n* Diamond Blackfan anemia.\n* Dyskeratosis congenita.\n* Shwachman Diamond Syndrome.\n* Amegakaryocytic thrombocytopenia.\n* Thrombocytopenia absent radii.\n* Severe Congenital Neutropenia.\n* Pearson Syndrome.\n* Other bone marrow failure syndromes.\n\nFamily Members of IBMFS - Affected Subjects:\n\n-Family members include first degree relatives of IBMFS-affected subjects as defined here, i.e. siblings (half or full), biologic parents, and children. Grandparents of IBMFS-affected subjects are also included, specifically for Hypothesis 4. The age range will be from birth to old age (grandparents of probands).\n\nPatients in the general population:\n\n-Patients in the general population with sporadic tumors of the types seen in the IBMFS (head and neck, gastrointestinal, and anogenital cancer), with none of the usual risk factors for those tumors (e.g. smoking, drinking, HPV). These patients will be further evaluated for an IBMFS by the referring physician under the guidance of the study investigators and if diagnosed with an IBMFS or if not diagnosed but highly suspicious for an IBMFS, would be eligible for inclusion in the Field and Clinic Center cohorts.\n\nEXCLUSION CRITERIA:\n\n-Affected: An individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Evidence that the hematologic disorder is acquired rather than genetic. Such evidence includes temporal relation of the aplastic anemia to known marrow suppressant drugs, chemicals, toxins, or viruses (in the absence of evidence indicative of an inherited marrow failure disorder).\n* Known causes of cytopenias such as autoantibodies to red cells, platelets, or neutrophils, viruses (especially hepatitis), micronutrient deficiencies, transient erythroblastopenia of childhood, and cyclic neutropenia.\n* Assignment of the patient s physical findings to other syndromes or causes that are not part of the IBMFS disease spectrum.\n* Inability of the participant or LAR to understand and be willing to sign a written informed consent document.\n* Unwillingness to permit access to medical records and pathology specimens.\n\nThere are no other exclusion parameters not related to the primary disease.\n\n-Unaffected\u002FFamily Members: An individual who meets any of the following criteria will be excluded from participation in this study:\n\n* If there is no affected individual in the family who meets the inclusion criteria\n* Inability of the participant or LAR to understand and be willing to sign a written informed consent document.\n* Unwillingness to permit access to medical records and pathology specimens.",true,"1 Day","100 Years",{"count":103,"type":19},4000,"Background:\n\nA prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.\n\nPathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers.\n\nPatients with IBMFS who develop cancer differ in their genetic and\u002For environmental features from patients with IBMFS who do not develop cancer.\n\nThese cancer-prone families are well suited for cancer screening and prevention trials targeting those at increased genetic risk of cancer.\n\nCarriers of IBMFS pathogenic variant(s) are at increased risk of cancer.\n\nThe prototype disorder is Fanconi's Anemia (FA); other IBMFS will also be studied.\n\nObjectives:\n\nTo determine the types and incidence of specific cancers in patients with an IBMFS.\n\nTo investigate the relevance of IBMFS pathogenic variant(s) in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers.\n\nTo identify risk factors for IBMFS-related cancers in addition to the primary germline pathogenic variant(s).\n\nTo determine the risk of cancer in IBMFS carriers.\n\nEligibility:\n\nNorth American families with a proband with an IBMFS.\n\nIBMFS suspected by phenotype, confirmed by pathogenic variant(s) in an IBMFS gene, or by clinical diagnostic test.\n\nFanconi's anemia: birth defects, marrow failure, early onset malignancy; positive chromosome breakage result.\n\nDiamond-Blackfan anemia: pure red cell aplasia; elevated red cell adenosine deaminase.\n\nDyskeratosis congenita: dysplastic nails, lacey pigmentation, leukoplakia; marrow failure.\n\nShwachman-Diamond Syndrome: malabsorption; neutropenia.\n\nAmegakaryocytic thrombocytopenia: early onset thrombocytopenia.\n\nThrombocytopenia absent radii: absent radii; early onset thrombocytopenia.\n\nSevere Congenital Neutropenia: neutropenia, pyogenic infections, bone marrow maturation arrest.\n\nPearson's Syndrome: malabsorption, neutropenia, marrow failure, metabolic acidosis; ringed sideroblasts.\n\nOther bone marrow failure syndromes: e.g. Revesz Syndrome, WT, IVIC, radio-ulnar synostosis, ataxia-pancytopenia.\n\nFirst degree relatives of IBMFS-affected subjects as defined here, i.e. siblings (half or full), biologic parents, and children.\n\nGrandparents of IBMFS-affected subjects.\n\nPatients in the general population with sporadic tumors of the types seen in the IBMFS (head and neck, gastrointestinal, and anogenital cancer), with none of the usual risk factors (e.g. smoking, drinking, HPV).\n\nDesign:\n\nNatural history study, with questionnaires, clinical evaluations, clinical and research laboratory test, review of medical records, cancer surveillance.\n\nPrimary endpoints are all cancers, solid tumors, and cancers specific to each type of IBMFS.\n\nSecondary endpoints are markers of pre-malignant conditions, such as leukoplakia, serum or tissue evidence of carcinogenic viruses, and bone marrow morphologic myelodyplastic syndrome or cytogenetic clones.",[106,33,37,107,108],"Diamond Blackfan Anemia","Shwachman Diamond Syndrome","Inherited Bone Marrow Failure Syndrome, Aplastic Anemia",[37,106,33,107,110,111,112,113,114,115,38],"Hereditary","Natural History","Fanconi's Anemia","Bone Marrow","Inherited Bone Marrow Failure Syndromes","IBMFS","2026-06-11",{"date":118,"type":83},"2026-06-12",{"date":120,"type":83},"2001-11-28",{"name":122,"class":123},"National Cancer Institute (NCI)","NIH",2,{"id":126,"slug":127,"hasResults":11,"nctId":128,"briefTitle":129,"officialTitle":129,"acronym":4,"eligibilityCriteria":130,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":131,"targetDuration":133,"studyType":20,"phases":4,"briefSummary":134,"conditions":135,"keywords":146,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":150,"lastUpdatePostDateStruct":151,"startDateStruct":153,"completionDateStruct":155,"leadSponsor":157,"locationsCount":91},"100264360","investigation-of-the-genetics-of-hematologic-diseases-100264360","NCT02720679","Investigation of the Genetics of Hematologic Diseases","Inclusion Criteria:\n\n* An individual (proband) receiving therapy or expert consultation regarding a non-malignant hematologic disorder, MDS or MPN.\n* A biologically-related individual to the identified proband to include: first, second or third degree relatives.\n\nExclusion Criteria:\n\n* None",{"count":132,"type":19},1716,"10 Years","The purpose of this study is to collect and store samples and health information for current and future research to learn more about the causes and treatment of blood diseases. This is not a therapeutic or diagnostic protocol for clinical purposes. Blood, bone marrow, hair follicles, nail clippings, urine, saliva and buccal swabs, left over tissue, as well as health information will be used to study and learn about blood diseases by using genetic and\u002For genomic research. In general, genetic research studies specific genes of an individual; genomic research studies the complete genetic makeup of an individual.\n\nIt is not known why many people have blood diseases, because not all genes causing these diseases have been found. It is also not known why some people with the same disease are sicker than others, but this may be related to their genes. By studying the genomes in individuals with blood diseases and their family members, the investigators hope to learn more about how diseases develop and respond to treatment which may provide new and better ways to diagnose and treat blood diseases.\n\nPrimary Objective:\n\n* Establish a repository of DNA and cryopreserved blood cells with linked clinical information from individuals with non-malignant blood diseases and biologically-related family members, in conjunction with the existing St. Jude biorepository, to conduct genomic and functional studies to facilitate secondary objectives.\n\nSecondary Objectives:\n\n* Utilize next generation genomic sequencing technologies to Identify novel genetic alternations that associate with disease status in individuals with unexplained non-malignant blood diseases.\n* Use genomic approaches to identify modifier genes in individuals with defined monogenic non-malignant blood diseases.\n* Use genomic approaches to identify genetic variants associated with treatment outcomes and toxicities for individuals with non-malignant blood disease.\n* Use single cell genomics, transcriptomics, proteomics and metabolomics to investigate biomarkers for disease progression, sickle cell disease (SCD) pain events and the long-term cellular and molecular effects of hydroxyurea therapy.\n* Using longitudinal assessment of clinical and genetic, study the long-term outcomes and evolving genetic changes in non-malignant blood diseases.\n\nExploratory Objectives\n\n* Determine whether analysis of select patient-derived bone marrow hematopoietic progenitor\u002Fstem (HSPC) cells or induced pluripotent stem (iPS) cells can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms.\n* Determine whether analysis of circulating mature blood cells and their progenitors from selected patients with suspected or proven genetic hematological disorders can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms.",[136,137,138,139,140,141,33,31,142,143,37,144,145],"Bone Marrow Failure Syndromes","Erythrocyte Disorder","Leukocyte Disorder","Hemostasis","Blood Coagulation Disorder","Sickle Cell Disease","Congenital Thrombocytopenia","Severe Congenital Neutropenia","Myelodysplastic Syndromes","Myeloproliferative Diseases",[147,148,149],"Genetics","Whole genome sequencing","Pediatrics and hematology","2026-06-05",{"date":152,"type":83},"2026-06-09",{"date":154,"type":83},"2016-06-17",{"date":156,"type":19},"2050-07",{"name":89,"class":90},{"id":159,"slug":160,"hasResults":11,"nctId":161,"briefTitle":162,"officialTitle":163,"acronym":4,"eligibilityCriteria":164,"healthyVolunteers":11,"sex":16,"minAge":165,"maxAge":4,"enrollmentInfo":166,"targetDuration":4,"studyType":168,"phases":169,"briefSummary":171,"conditions":172,"keywords":4,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":174,"lastUpdatePostDateStruct":175,"startDateStruct":176,"completionDateStruct":178,"leadSponsor":180,"locationsCount":91},"100640754","phase-1-quercetin-dyskeratosis-congenita-dctelomere-biology-disorders-tbd-100640754","NCT07628972","Quercetin Dyskeratosis Congenita (DC)\u002FTelomere Biology Disorders (TBD)","Pilot Study of Quercetin Patients With Dyskeratosis Congenita\u002FTelomere Biology Disorders","Inclusion Criteria:\n\n1. Diagnosis of DC\u002FTBD deficiency as defined by at least one of the following:\n\n   * Age adjusted mean-telomere length of \\\u003C1 percentile in all tested peripheral blood cells such as granulocytes, lymphocytes, B-cells, naïve T-cells, memory T-cells, and NK cells\n   * A pathogenic or likely pathogenic mutation in DKC1, TERC, TERT, NOP10, NHP2, TINF2, CTC1, PARN, RTEL1, ACD, NAF1, ZCCHC8, or WRAP53\n2. Patients ≥ 2.0 years of age\\*\n\n   * The first three enrolled patients must be ≥ 10.0 years of age\n3. Able to take medication orally\n\nExclusion Criteria:\n\n1. Renal failure requiring dialysis\n2. Total bilirubin \\>3 mg\u002Fdl and\u002For SGPT \\>300 at time of enrollment, unless elevation thought to be related to DC\u002FTBD\n3. Patients who have received quercetin or any over-the-counter antioxidant supplementation within last 1 month\n4. Patients currently taking androgen therapy\n5. Patients receiving digoxin therapy, who are unable to discontinue treatment due to medical reasons\n6. Patients receiving fluoroquinolone therapy, who are unable to discontinue treatment due to medical reasons\n7. Patients who are pregnant or breastfeeding or are at risk of pregnancy and are unable to use acceptable methods of birth control during the length of the study\n8. Patients with morphologic or cytogenetic evidence of myelodysplasia or leukemia.\n9. Patients needing to start or actively receiving radiation therapy, chemotherapy or immunotherapy for treatment of SCC or other cancers.\n10. Patients with unstable disease status or other medical issues requiring hospitalization or rapid escalation of medical care\n11. Participating in another therapeutic study for DC\u002FTBD\n12. Patients who are in the early post-stem cell transplant period (i.e. first 6 months post-transplant)","2 Years",{"count":167,"type":19},12,"INTERVENTIONAL",[170],"PHASE1","The purpose of this study is to see if a vitamin-like substance called quercetin is safe for people who have a rare condition called Dyskeratosis congenita (DC) or telomere biology disorders (TBD).",[33,173],"Telomere Disease","2026-06-01",{"date":150,"type":83},{"date":177,"type":83},"2026-05-29",{"date":179,"type":19},"2028-09",{"name":181,"class":90},"Children's Hospital Medical Center, Cincinnati",{"id":183,"slug":184,"hasResults":11,"nctId":185,"briefTitle":186,"officialTitle":186,"acronym":4,"eligibilityCriteria":187,"healthyVolunteers":11,"sex":16,"minAge":188,"maxAge":189,"enrollmentInfo":190,"targetDuration":4,"studyType":168,"phases":192,"briefSummary":193,"conditions":194,"keywords":201,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":215,"lastUpdatePostDateStruct":216,"startDateStruct":218,"completionDateStruct":220,"leadSponsor":222,"locationsCount":91},"100578922","phase-1-nucleoside-therapy-in-patients-with-telomere-biology-disorders-100578922","NCT06817590","Nucleoside Therapy in Patients With Telomere Biology Disorders","Inclusion Criteria:\n\n* Age ≥ 1 year and ≤ 70 years\n* Karnofsky performance status ≥ 50 for participants ≥16 years of age and Lansky performance status ≥ 50 for participants \\\u003C16 years of age\n* Diagnosis requirement. Participants must meet at least one of the following requirements for a diagnosis of a telomere biology disorder:\n\n  1. Age-adjusted mean telomere length \\\u003C 1%ile in peripheral blood lymphocytes by flow cytometry-fluorescence in situ hybridization (flow-FISH), as reported by a Clinical Laboratory Improvement Amendments (CLIA)-approved laboratory\n\n     OR\n  2. Pathogenic or likely pathogenic variant(s) in one of the follow telomere biology associated genes: DKC1, TERC, TERT, NOP10, NHP2, WRAP53\u002FTCAB1, TINF2, CTC1, RTEL1, ACD, PARN, NAF1, STN1, ZCCHC8, POT1, RPA1, DCLRE1B, TYMS, as reported by a CLIA-approved laboratory.\n* Participants must exhibit at least one active clinical manifestation associated with a telomere biology disorder, in the judgment of the PI, which includes but is not limited to the following: one or more peripheral blood cytopenias, bone marrow hypocellular for age, pulmonary abnormalities, liver abnormalities, gastrointestinal bleeding, immunodeficiency or immune dysregulation, ophthalmologic abnormalities, or neurologic abnormalities.\n* Participants must be able to take enteral liquids by mouth or enteral feeding tube.\n* Female participants who are sexually active and could become pregnant must use two effective methods of contraception, at least one of which must be considered a highly effective method.\n* Participants (or parent\u002Flegally authorized representative for minors) must demonstrate the ability to understand and willingness to provide informed consent, which will be documented using an institutionally approved informed consent procedure.\n\nExclusion Criteria:\n\n* Participants must not have very severe aplastic anemia necessitating bone marrow transplant at the time of enrollment. Very severe aplastic anemia is defined by the presence of at least 2 of the following: ANC \\\u003C200 cells\u002Fmicroliter, platelets \\\u003C20,000 cells\u002Fmicroliter, absolute reticulocyte count \\\u003C40,000 cells\u002Fmicroliter. If individuals with very severe aplastic anemia are not expected to undergo bone marrow transplant either due to the lack of an acceptable donor or medical co-morbidities and otherwise meet the inclusion\u002Fexclusion criteria, then they would be eligible for enrollment in this trial.\n* Participants must not otherwise be expected to undergo bone marrow transplantation within 6 months of enrollment.\n* Participants must not be taking concurrent medications intended to improve hematopoiesis such as androgens or growth factors, including granulocyte colony stimulating factor, erythropoietin, or thrombopoietin mimetics. If any of these therapies were taken previously, patients must wait 30 days after cessation of the therapy before enrollment on this trial.\n* Participants must not have chronic diarrhea or an average baseline stool output of more than 4 stools per day.\n* Participants must not have gastrointestinal disorders that may impair enteral absorption of dC\u002FdT, such as inflammatory bowel disease or short bowel syndrome.\n* Participants must not have chronic kidney disease with an estimated glomerular filtration rate \\\u003C 60 mL\u002Fmin\u002F1.73 m2.\n* Participants must not be on other medications or study agents or have other uncontrolled intercurrent illness that could interfere with study interpretation, in the opinion of the study Principal Investigator (PI)\n* Participants must not have high-risk myelodysplastic syndrome or leukemia or other active malignancy.\n* Pregnant individuals will not be eligible for enrollment given the physiological changes in blood counts that occur during pregnancy.\n* Breastfeeding mothers will not be eligible for enrollment due to the unknown risk to nursing infants.","1 Year","70 Years",{"count":191,"type":19},36,[170],"The goal of this clinical trial is to learn if a combination therapy of deoxycytidine (dC) plus deoxythymidine (dT) is safe in patients with telomere biology disorders. The main questions it aims to answer are:\n\n* Is the therapy safe with tolerable side effects in patients with telomere biology disorders?\n* Are problems with the bone marrow or blood or lungs changed after 6 months of dC+dT treatment in patients with telomere biology disorders?\n\nParticipants will:\n\n* Take study drug by mouth three times daily for 24 weeks\n* Make approximately 2 visits to Boston Children's Hospital during the 24 weeks: once at the beginning of treatment and once at the end of treatment.\n* Go to a lab for a blood draw an additional 6 times during treatment.\n* Have 9 phone calls with a research nurse, including one 4 weeks after treatment ends.\n* Keep a diary to track doses of study drug that were taken or missed.",[195,33,196,197,198,199,200],"Telomere Biology Disorders","Revesz Syndrome","Hoyeraal Hreidarsson Syndrome","Telomere Biology Disorders With Bone Marrow Failure","Interstitial Lung Disease Due to Systemic Disease (Telomere Biology Disorder)","Pulmonary Fibrosis, Familial (Telomere Biology Disorder)",[202,203,204,205,206,207,208,209,210,211,212,213,214],"nucleoside","phase I","deoxycytidine","deoxythymidine","telomere biology disorders","safety","tolerability","pharmacokinetics","telomere lengths","bone marrow","clonal hematopoiesis","bone marrow failure","pulmonary fibrosis","2026-03-16",{"date":217,"type":83},"2026-03-18",{"date":219,"type":83},"2025-09-29",{"date":221,"type":19},"2029-06",{"name":223,"class":90},"Suneet Agarwal",{"id":225,"slug":226,"hasResults":11,"nctId":227,"briefTitle":228,"officialTitle":229,"acronym":4,"eligibilityCriteria":230,"healthyVolunteers":11,"sex":16,"minAge":231,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":232,"phases":4,"briefSummary":233,"conditions":234,"keywords":236,"overallStatus":239,"whyStopped":4,"lastUpdateSubmitDate":240,"lastUpdatePostDateStruct":241,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":243,"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.",[235,37,33,141],"Severe Combined Immunodeficiency",[237,238],"stem cell transplantation","graft manipulation","AVAILABLE","2026-02-16",{"date":242,"type":83},"2026-02-18",{"name":244,"class":90},"University of Florida",{"id":246,"slug":247,"hasResults":11,"nctId":248,"briefTitle":249,"officialTitle":250,"acronym":4,"eligibilityCriteria":251,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":252,"enrollmentInfo":253,"targetDuration":4,"studyType":168,"phases":255,"briefSummary":257,"conditions":258,"keywords":4,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":263,"lastUpdatePostDateStruct":264,"startDateStruct":266,"completionDateStruct":268,"leadSponsor":270,"locationsCount":91},"100330256","phase-2-alphabeta-tcd-hct-in-patients-with-inherited-bmf-disorders-100330256","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","65 Years",{"count":254,"type":19},48,[256],"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.",[37,259,144,260,261,262,33,195],"Severe Aplastic Anemia","T Cell Receptor Alpha\u002FBeta Depletion","Telomere Biology Disorder","Bone Marrow Failure","2026-01-29",{"date":265,"type":83},"2026-01-30",{"date":267,"type":83},"2018-11-13",{"date":269,"type":19},"2029-01-05",{"name":271,"class":90},"Masonic Cancer Center, University of Minnesota",{"id":273,"slug":274,"hasResults":11,"nctId":275,"briefTitle":276,"officialTitle":276,"acronym":4,"eligibilityCriteria":277,"healthyVolunteers":11,"sex":16,"minAge":278,"maxAge":279,"enrollmentInfo":280,"targetDuration":4,"studyType":168,"phases":282,"briefSummary":283,"conditions":284,"keywords":291,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":293,"lastUpdatePostDateStruct":294,"startDateStruct":296,"completionDateStruct":298,"leadSponsor":300,"locationsCount":91},"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":281,"type":19},27,[256],"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.",[285,286,262,287,37,288,289,33,261,290],"Primary Immune Deficiency Disorder","Immune Deficiency Disease","Short Telomere Length","Non Fanconi DNA-DSB Repair Disorder","Hoyeraal-Hreidarsson Syndrome","Short Telomere Syndrome",[292],"Bone Marrow Transplantation","2025-11-21",{"date":295,"type":83},"2025-11-28",{"date":297,"type":83},"2020-02-12",{"date":299,"type":19},"2028-12-31",{"name":301,"class":90},"Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins"]