[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"amyloidosis-familial\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:amyloidosis-familial":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,49,110,136],{"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":30,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100476869","subclinical-transthyretin-cardiac-amyloidosis-in-v122i-ttr-carriers-100476869",false,"NCT05489549","Subclinical Transthyretin Cardiac Amyloidosis in V122I TTR Carriers","Identifying Subclinical Transthyretin Cardiac Amyloidosis in Asymptomatic Carriers of the V122I TTR Allele","(V122I TTR carriers and carriers of other pathogenic TTR alleles (or matched non-carriers))\n\nInclusion Criteria:\n\n* Men and women ages 30-80 who are carriers of pathogenic TTR alleles (or matched non-carriers) without history of HF (this will be assessed by study personnel) and defined as: a) No history of hospitalization within the previous 12 months for management of HF; b) Without an elevated B-type natriuretic peptide level ≥100 pg\u002FmL or NT-proBNP ≥360 pg\u002FmL within the previous 12 months; or c) No clinical diagnosis of HF from a treating clinician\n* Signed informed consent\n\nExclusion Criteria:\n\n* A self-reported history or clinical history of HF\n* Other known causes of cardiomyopathy\n* History of light-chain cardiac amyloidosis\n* Prior type 1 myocardial infarction (non-ST segment elevation myocardial Infarction {NSTEMI} or ST-elevation myocardial infarction {STEMI})\n* Cardiac transplantation\n* Body weight \\>250 lbs\n* Estimated glomerular filtration rate ≤30 mL\u002Fmin\u002F1.73 m2\n* Inability to safely undergo CMRI\n\n(For participants with symptomatic hATTR-CA, we will enroll probands with HF from Aim 1 or patients with suspected symptomatic hATTR-CA from the three study sites.)\n\nInclusion Criteria:\n\n* Men and women ages 30-80 who have symptomatic hATTR-CA as determined by a history of HF (this will be assessed by study personnel) and defined as: a) History of hospitalization within the previous 12 months for management of HF; b) An elevated B-type natriuretic peptide level ≥100 pg\u002FmL or NT-proBNP ≥360 pg\u002FmL within the previous 12 months; or c) A clinical diagnosis of HF from a treating clinician.\n* Have an established or suspected diagnosis of hATTR-CA based on either a) Biopsy confirmed by Congo red (or equivalent) staining with tissue typing with immunohistochemistry or mass spectrometric analysis or immunoelectron microscopy, OR b) positive technetium-99m (99mTc)-pyrophosphate or -bisphosphonate scan, combined with accepted laboratory criteria without abnormal M-protein.\n* TTR gene sequencing that is pending or that is confirming the pathogenic TTR variant\n* Signed informed consent\n\nExclusion Criteria:\n\n* Other known causes of cardiomyopathy\n* History of light-chain cardiac amyloidosis\n* Cardiac transplantation\n* Liver transplantation\n* Previous treatment with a TTR stabilizer (tafamidis, acoramidis) within the prior 14 days or TTR any silencer (inotersen, patisiran, eplontersen)\n* Estimated glomerular filtration rate ≤30 mL\u002Fmin\u002F1.73 m2","ALL","30 Years","80 Years",{"count":20,"type":21},500,"ESTIMATED","OBSERVATIONAL","Approximately 1.5 million of the 44 million Blacks in the United States are carriers of the valine-to-isoleucine substitution at position 122 (V122I) in the transthyretin (TTR) protein. Virtually exclusive to Blacks, this is the most common cause of hereditary cardiac amyloidosis (hATTR-CA) worldwide. hATTR-CA leads to worsening heart failure (HF) and premature death. Fortunately, new therapies that stabilize TTR improve morbidity and mortality in hATTR-CA, especially when prescribed early in the disease. However, hATTR-CA is often diagnosed at an advanced stage and conventional diagnostic tools lack diagnostic specificity to detect early disease.\n\nThe overall objectives of this study are to determine the presence of subclinical hATTR-CA and to identify biomarkers that indicate amyloid progression in V122I TTR carriers. The central hypothesis of this proposal is that hATTR-CA has a long latency period that will be detected through subclinical amyloidosis imaging and biomarker phenotyping.\n\nThe central hypothesis will be tested by pursuing 2 specific aims: Aim 1) determine the association of V122I TTR carrier status with CMRI evidence of amyloid infiltration; Sub-aim 1) determine the association of V122I TTR carrier status with cardiac reserve; Aim 2) determine the association between amyloid-specific biomarkers and V122I TTR carrier status; and Sub-aim 2) determine the association of amyloid-specific biomarkers with imaging-based parameters and evaluate their diagnostic utility for identifying subclinical hATTR-CA. In Aim 1, CMRI will be used to compare metrics associated with cardiac amyloid infiltration between a cohort of V122I TTR carriers without HF formed by cascade genetic testing and age-, sex-, and race-matched non-carrier controls. For Sub-Aim 1, a sub-sample of carriers and non-carrier controls enrolled in Aim 1 will undergo novel exercise CMRI to measure and compare cardiac systolic and diastolic reserve. Aim 2 involves measuring and comparing amyloid-specific biomarkers in V122I TTR carriers without HF with samples matched non-carriers (both from Aim 1) and individuals with symptomatic V122I hATTR-CA from our clinical sites. These biomarkers detect and quantify different processes of TTR amyloidogenesis and include circulating TTR, retinol binding protein 4, TTR kinetic stability, and misfolded TTR oligomers. Sub-aim 2 will establish the role of these biomarkers to detect imaging evidence of subclinical hATTR-CA disease.",[25,26,27,28,29],"Amyloidosis, Hereditary","Amyloidosis Cardiac","Amyloidosis, Familial","Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy","Transthyretin Gene Mutation",[31,32,33,34,35],"Amyloidosis","Transthyretin Amyloidosis","V122I TTR","p.Val142Ile TTR","Cardiac magnetic resonance imaging","RECRUITING","2026-06-23",{"date":39,"type":40},"2026-06-26","ACTUAL",{"date":42,"type":40},"2022-11-21",{"date":44,"type":21},"2027-06-30",{"name":46,"class":47},"University of Texas Southwestern Medical Center","OTHER",3,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":4,"eligibilityCriteria":55,"healthyVolunteers":11,"sex":16,"minAge":56,"maxAge":57,"enrollmentInfo":58,"targetDuration":4,"studyType":60,"phases":61,"briefSummary":63,"conditions":64,"keywords":82,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":102,"completionDateStruct":104,"leadSponsor":106,"locationsCount":109},"100567749","phase-3-a-phase-3-study-of-ntla-2001-in-attrv-pn-100567749","NCT06672237","A Phase 3 Study of NTLA-2001 in ATTRv-PN","MAGNITUDE-2: A Phase 3, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of NTLA-2001 in Participants With Hereditary Transthyretin Amyloidosis With Polyneuropathy (ATTRv-PN)","Inclusion Criteria:\n\n* Diagnosis of ATTRv-PN\n* Karnofsky Performance Status (KPS) ≥ 60\n\nExclusion Criteria:\n\n* Other causes of amyloidosis (amyloidosis caused by non-TTR protein)\n* Other known causes of sensorimotor or autonomic neuropathy\n* Diabetes mellitus\n* New York Heart Association Class III or IV heart failure\n* Liver failure\n* Hepatitis B, hepatitis C or human immunodeficiency virus (HIV) infection\n* Prior receipt of a TTR silencer (Small interfering RNA (siRNA) or Antisense oligonucleotides (ASOs))\n* Estimated Glomerular Filtration Rate \\\u003C 30 mL\u002Fmin\u002F1.73 m2\n* Unable or unwilling to take vitamin A supplementation for the duration of the study\n* History of liver disease","18 Years","85 Years",{"count":59,"type":21},60,"INTERVENTIONAL",[62],"PHASE3","This study will be conducted to evaluate the efficacy and safety of a single dose of nexiguran ziclumeran (NTLA-2001) compared to placebo in participants with ATTRv-PN.",[65,66,67,68,69,70,71,72,73,74,27,25,31,75,76,77,78,79,80,81],"Neuromuscular Disease","Neuromuscular Diseases (NMD)","Neurodegenerative Disease","Neurodegenerative Disease, Hereditary","Neurodegenerative Diseases","Neuromuscular Diseases","Nerve Disorders","Nervous System Disease","Nervous System Diseases","Genetic Disease, Inborn","Polyneuropathies","Amyloid Neuropathies","Amyloid Neuropathies, Familial","Peripheral Nervous System Disease","Peripheral Nervous System Diseases","Metabolism, Inborn Errors","Metabolic Diseases",[83,31,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98],"TTR","Polyneuropathy","NTLA-2001","ATTR","ATTR-PN","ATTRv-PN","Transthyretin","TTR-mediated amyloidosis","Amyloidosis, hereditary","Amyloidosis, hereditary, transthyretin-related amyloidosis","Transthretin amyloid polyneuropathy","TTR PN","TTR polyneuropathy","nexiguran ziclumeran","nex-z","CRISPR","2026-04-13",{"date":101,"type":40},"2026-04-16",{"date":103,"type":40},"2024-11-22",{"date":105,"type":21},"2028-08",{"name":107,"class":108},"Intellia Therapeutics","INDUSTRY",14,{"id":111,"slug":112,"hasResults":11,"nctId":113,"briefTitle":114,"officialTitle":114,"acronym":4,"eligibilityCriteria":115,"healthyVolunteers":11,"sex":16,"minAge":56,"maxAge":4,"enrollmentInfo":116,"targetDuration":118,"studyType":22,"phases":4,"briefSummary":119,"conditions":120,"keywords":122,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":126,"lastUpdatePostDateStruct":127,"startDateStruct":129,"completionDateStruct":131,"leadSponsor":133,"locationsCount":135},"100609339","comprehensive-program-for-hereditary-transthyretin-amyloidosis-100609339","NCT07213297","Comprehensive Program for Hereditary Transthyretin Amyloidosis","Inclusion Criteria:\n\n-Participants with a pathogenic variant of the TTR gene (Hereditary Amyloidosis)\n\nExclusion Criteria:\n\n* wild-type TTR amyloidosis",{"count":117,"type":21},20,"3 Years","The Comprehensive Program for Hereditary Transthyretin Amyloidosis describes a prospective observational study focused on understanding hereditary transthyretin amyloidosis (ATTR), a progressive and potentially fatal condition marked by amyloid fibril deposits impacting multiple organs. The trial aims to characterize patient phenotypes, investigate factors affecting disease progression, and identify minimum criteria for disease onset. Conducted at Néstor Kirchner Hospital, the trial enrolls participants over 18 years old with confirmed pathogenic TTR variants. It includes thorough evaluations such as genetic testing sponsored by pharmaceutical companies, clinical assessments, and diverse diagnostic tests.",[121,27],"Amyloidosis in Transthyretin (TTR)",[123,124,125],"transthyretin","amyloidosis","comprensive care","2026-03-20",{"date":128,"type":40},"2026-03-24",{"date":130,"type":40},"2025-11-01",{"date":132,"type":21},"2028-12-01",{"name":134,"class":47},"Hospital de Alta Complejidad en Red",1,{"id":137,"slug":138,"hasResults":11,"nctId":139,"briefTitle":140,"officialTitle":141,"acronym":4,"eligibilityCriteria":142,"healthyVolunteers":11,"sex":16,"minAge":56,"maxAge":4,"enrollmentInfo":143,"targetDuration":4,"studyType":60,"phases":145,"briefSummary":146,"conditions":147,"keywords":154,"overallStatus":158,"whyStopped":4,"lastUpdateSubmitDate":159,"lastUpdatePostDateStruct":160,"startDateStruct":162,"completionDateStruct":164,"leadSponsor":166,"locationsCount":4},"100601897","phase-3-to-evaluate-the-long-term-safety-and-tolerability-of-acoramidis-in-participants-with-newly-diagnosed-attr-cm-act-early-ole-100601897","NCT07116473","To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)","A Phase 3, Open-Label, Multicenter, Extension Study of Acoramidis in Patients With Newly Diagnosed Variant Transthyretin Amyloid Cardiomyopathy (ACT-EARLY OLE)","Key Inclusion Criteria:\n\nParticipants must have completed the AG10-501 study (ACT-EARLY study) within the past 60 calendar days with a diagnosis of ATTR-CM (based on the AG10-501 protocol definition of ATTR-CM).\n\nKey Exclusion Criteria:\n\n1. Participants who completed the AG10-501 study with a diagnosis of ATTR-PN only, or who permanently discontinued study drug prior to diagnosis of ATTR-CM in AG10-501.\n2. History of AL or another non-TTR amyloid subtype (eg, ApoA-1, gelsolin).\n3. History of a monoclonal paraprotein or abnormal light chains in serum or urine (i.e., MGUS) in which AL has not been ruled out.\n4. Stage IV or V chronic kidney disease (corresponding to an eGFR ≤ 29 mL\u002Fmin\u002F1.73 m2), or undergoing renal dialysis, or recipient of a kidney transplant.\n5. Active malignancy, except for basal or squamous cell carcinoma of the skin, carcinoma in situ of the cervix that has been successfully treated. In the event a participant developed a low-grade and treatable malignancy in the AG10-501 study (eg, low-grade, localized prostate cancer) and the decision by the Investigator at that time was to continue the participant in the AG10-501 study, that participant may still qualify for Study AG10-504 after documentation with the Medical Monitor.\n6. History of any organ transplant (with the exception of corneal transplant).\n7. Known hypersensitivity to acoramidis or any of the excipients within the study drug.\n8. Treatment for ATTR-CM with any ATTR-oriented on- or off-label or OTC product.",{"count":144,"type":21},250,[62],"The AG10-504 study is an open-label extension study of acoramidis in participants with newly diagnosed transthyretin amyloid cardiomyopathy (ATTR-CM) or both ATTR-CM and transthyretin amyloid polyneuropathy (ATTR-PN).",[121,27,148,149,150,151,152,153,75,31],"Amyloid Cardiomyopathy","Amyloid Cardiomyopathy, Transthyretin-Related","Amyloidogenic Transthyretin (ATTR) Amyloidosis","Heart Disease","Cardiomyopathies","Amyloidosis, Hereditary, Transthyretin-Related",[155,87,31,89,156,83,157],"ATTR-CM","Amyloid","Hereditary","NOT_YET_RECRUITING","2025-08-07",{"date":161,"type":40},"2025-08-11",{"date":163,"type":21},"2025-11",{"date":165,"type":21},"2037-12",{"name":167,"class":108},"Eidos Therapeutics, a BridgeBio company"]