[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"telomere-biology-disorders\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:telomere-biology-disorders":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,45,90],{"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":28,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100440193","natural-history-of-acquired-and-inherited-bone-marrow-failure-syndromes-100440193",false,"NCT05012111","Natural History of Acquired and Inherited Bone Marrow Failure Syndromes","The Natural History of Acquired and Inherited Bone Marrow Failure Syndromes","* INCLUSION CRITERIA:\n\nTo be eligible to participate in this study, an individual must meet all of the following criteria. Subjects and their family members who undergo screening but ultimately do not meet criteria for cohorts 1-5 will be removed from the study. Subjects may forgo screening and sign directly onto cohorts 1-5 if they meet criteria based on either prior NIH testing or external examinations. Family members will only be asked to be screened for participation onto this study after confirmation of eligibility by an affected participant.\n\nCohorts 1-4\n\n* Age \\>=2 years\n* Diagnosis of acquired or inherited bone marrow failure or ineffective hematopoiesis or TBD (see below for cohort 3 specific criteria)\n* Ability and willingness to come to the NIH CC for consultation and testing\n* Ability of subject or Legally Authorized Representative (LAR) to understand the investigational nature of the protocol and their willingness to sign a written informed consent document.\n* For cohort 3 - TBD:\n\nPresence of a pathogenic, likely pathogenic, or known family mutation in a telomere maintenance gene\n\nOR\n\nIf mutation negative or VUS, telomere length \\\u003C10th percentile in lymphocytes with at least two clinical features: 1) cytopenia (Hb \\\u003C10g\u002FdL or ANC \\\u003C1.5x10\\^9 or platelets \\\u003C100), 2) documented liver fibrosis by histology OR abnormal liver US \u002F fibro scan consistent with fatty liver or fibrosis), 3) documented pulmonary fibrosis by histology \u002F radiology OR PFTs showing FEV1 \\\u003C80% or DLCO \\\u003C60%, 4) family history of: marrow failure, myeloid malignancy, liver fibrosis or lung fibrosis.\n\nCohort 5\n\n* Age \\>= 2 years\n* First degree family member with a known or suspected inherited bone marrow failure syndrome from a patient enrolled on this or another NIH protocol as determined by a PI or AI\n* Ability and willingness to safely provide blood, buccal swab, or fibroblasts for testing as stated by subject\n* Ability of subject or Legally Authorized Representative (LAR) to understand the investigational nature of the protocol and the willingness to sign a written informed consent document.\n\nEXCLUSION CRITERIA:\n\n-None","ALL","2 Years","99 Years",{"count":20,"type":21},1000,"ESTIMATED","OBSERVATIONAL","Background:\n\nBone marrow failure diseases are rare. Much is known about the diseases at the time of diagnosis, but long-term data about the effects of the diseases and treatments are lacking. Researchers want to better understand long-term outcomes in people with these diseases.\n\nObjective:\n\nTo follow people diagnosed with acquired or inherited bone marrow failure disease and study the long-term effects of the disease and its treatments on organ function.\n\nEligibility:\n\nPeople aged 2 years and older who have been diagnosed with acquired or inherited bone marrow failure or Telomere Biology Disorder. First degree family members may also be able to take part in the study.\n\nDesign:\n\nParticipants will be screened with a medical history, physical exam, and blood tests. They may have a bone marrow biopsy and aspiration. For this, a large needle will be inserted in the hip through a small cut. Marrow will be drawn from the bone. A small piece of bone may be removed.\n\nParticipants may also be screened with some of the following:\n\nCheek swab or hair follicle sample\n\nSkin biopsy\n\nUrine or saliva sample\n\nEvaluation by disease specialists (e.g., lung, liver, heart)\n\nImaging scan of the chest\n\nLiver ultrasounds\n\nSix-Minute Walk Test\n\nLung function test\n\nParticipants will be put into groups based on their disease. They will have visits every 1 to 3 years. At visits, they may repeat some screening tests. They may fill out yearly surveys about their medicines, transfusions, pregnancy, bleeding, and so on. They may have other specialized procedures, such as imaging scans and ultrasounds.\n\nParticipation will last for up to 20 years.\n\n...",[25,26,27],"Severe Aplastic Anemia","Telomere Biology Disorders","Inherited Bone Marrow Failure Syndromes",[29,30,31],"Aplastic Anemia","Telomere","Natural History","RECRUITING","2026-06-23",{"date":35,"type":36},"2026-06-24","ACTUAL",{"date":38,"type":36},"2021-10-25",{"date":40,"type":21},"2041-02-04",{"name":42,"class":43},"National Heart, Lung, and Blood Institute (NHLBI)","NIH",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":16,"minAge":51,"maxAge":52,"enrollmentInfo":53,"targetDuration":4,"studyType":55,"phases":56,"briefSummary":58,"conditions":59,"keywords":66,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":44},"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":54,"type":21},36,"INTERVENTIONAL",[57],"PHASE1","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.",[26,60,61,62,63,64,65],"Dyskeratosis Congenita","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)",[67,68,69,70,71,72,73,74,75,76,77,78,79],"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":82,"type":36},"2026-03-18",{"date":84,"type":36},"2025-09-29",{"date":86,"type":21},"2029-06",{"name":88,"class":89},"Suneet Agarwal","OTHER",{"id":91,"slug":92,"hasResults":11,"nctId":93,"briefTitle":94,"officialTitle":95,"acronym":4,"eligibilityCriteria":96,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":97,"enrollmentInfo":98,"targetDuration":4,"studyType":55,"phases":100,"briefSummary":102,"conditions":103,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":109,"lastUpdatePostDateStruct":110,"startDateStruct":112,"completionDateStruct":114,"leadSponsor":116,"locationsCount":44},"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":99,"type":21},48,[101],"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.",[104,25,105,106,107,108,60,26],"Fanconi Anemia","Myelodysplastic Syndromes","T Cell Receptor Alpha\u002FBeta Depletion","Telomere Biology Disorder","Bone Marrow Failure","2026-01-29",{"date":111,"type":36},"2026-01-30",{"date":113,"type":36},"2018-11-13",{"date":115,"type":21},"2029-01-05",{"name":117,"class":89},"Masonic Cancer Center, University of Minnesota"]