[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"fshd---facioscapulohumeral-muscular-dystrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:fshd---facioscapulohumeral-muscular-dystrophy":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,69,100,123,152],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":14,"conditions":26,"keywords":44,"overallStatus":56,"whyStopped":4,"lastUpdateSubmitDate":57,"lastUpdatePostDateStruct":58,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":65,"locationsCount":68},"100595880","phase-3-a-study-to-evaluate-del-brax-also-referred-to-as-aoc-1020-in-participants-with-fshd-100595880",false,"NCT07038200","A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD","A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)","FORTITUDE-3","Inclusion Criteria:\n\n* Clinical and genetic diagnosis of FSHD1 or FSHD2\n* Ability to walk independently at pre-specified walking speed (orthoses and ankle braces allowed) for at least 10 meters at screening\n* Adequate muscle strength based on QMT composite score\n\nExclusion Criteria:\n\n* Breastfeeding, pregnancy, or intent to become pregnant during the study\n* Unwilling or unable to comply with contraceptive requirements\n* Abnormal lab values, conditions or diseases that would make the participant unsuitable for the study\n* Blood Pressure \\> 140\u002F90 mmHg at Screening\n* Treatment with another investigational drug or biological agent within 1 month of Screening or 5 half-lives of the drug, whichever is longer\n* Treatment with an oligonucleotide within 9 months of Screening","ALL","16 Years","70 Years",{"count":21,"type":22},200,"ESTIMATED","INTERVENTIONAL",[25],"PHASE3",[27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43],"Facioscapulohumeral Muscular Dystrophy","FSHD","FSHD - Facioscapulohumeral Muscular Dystrophy","FSHD1","FSHD2","Fascioscapulohumeral Muscular Dystrophy","Fascioscapulohumeral Muscular Dystrophy Type 1","Fascioscapulohumeral Muscular Dystrophy Type 2","Facioscapulohumeral Muscular Dystrophy 1","Facioscapulohumeral Dystrophy","Facio-Scapulo-Humeral Dystrophy","Facioscapulohumeral Muscular Dystrophy 2","Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)","FSH Muscular Dystrophy","Landouzy Dejerine Dystrophy","Landouzy-Dejerine Muscular Dystrophy","Landouzy-Dejerine Syndrome",[45,46,47,48,49,50,51,52,15,53,54,55],"Avidity","Avidity Biosciences","del-brax","del brax","delbrax","AOC1020","AOC 1020","delpacibart braxlosiran","FORTITUDE Phase 3","FORTITUDE","FORTITUDE 3","RECRUITING","2026-05-27",{"date":59,"type":60},"2026-05-29","ACTUAL",{"date":62,"type":60},"2025-06-10",{"date":64,"type":22},"2028-07",{"name":66,"class":67},"Avidity Biosciences, Inc.","INDUSTRY",46,{"id":70,"slug":71,"hasResults":11,"nctId":72,"briefTitle":73,"officialTitle":73,"acronym":4,"eligibilityCriteria":74,"healthyVolunteers":11,"sex":17,"minAge":75,"maxAge":4,"enrollmentInfo":76,"targetDuration":78,"studyType":79,"phases":4,"briefSummary":80,"conditions":81,"keywords":85,"overallStatus":56,"whyStopped":4,"lastUpdateSubmitDate":89,"lastUpdatePostDateStruct":90,"startDateStruct":92,"completionDateStruct":94,"leadSponsor":96,"locationsCount":99},"100624400","betterlife-fshd-a-patient-driven-health-and-research-platform-100624400","NCT07409142","BetterLife FSHD: A Patient-driven Health and Research Platform","Inclusion Criteria:\n\n* Individuals with a clinical or genetic diagnosis of FSHD, or individuals with a family history of FSHD who are showing symptoms\n* Age 1 year or older\n* Residing in the United States or its territories\n* If age 18 or older, individual must be able and willing to provide consent\n* If under age 18, individual must be able and willing to provide assent, when applicable, and have a parent or legal guardian register and provide consent\n\nExclusion Criteria:\n\n* Individuals residing outside the United States or its territories\n* Unable or unwilling to provide consent, or assent, when applicable","1 Year",{"count":77,"type":22},5000,"100 Years","OBSERVATIONAL","BetterLife FSHD is a registry platform built to support people living with FSHD. It connects patients with personalized resources, tools, and research opportunities that match their health experiences and needs. At the same time, BetterLife collects secure health and experience data from patients to support research. This data is shared with researchers to help better understand FSHD and work toward improved care, treatments, and outcomes for the community.\n\nLearn more and enroll at: www.BetterLifeFSHD.org",[82,40,29,30,28,31,27,35,38,83,84],"FSH","Facioscapulohumeral Muscular Dystrophy (FSHD)","Muscular Dystrophy, Facioscapulohumeral",[28,86,40,30,31,87,88],"Registry","Facioscapulohumeral dystrophy","facioscapulohumeral muscular dystrophy","2026-02-19",{"date":91,"type":60},"2026-02-20",{"date":93,"type":60},"2024-08-02",{"date":95,"type":22},"2060-01",{"name":97,"class":98},"FSHD Society","OTHER",1,{"id":101,"slug":102,"hasResults":11,"nctId":103,"briefTitle":104,"officialTitle":105,"acronym":4,"eligibilityCriteria":106,"healthyVolunteers":11,"sex":17,"minAge":107,"maxAge":4,"enrollmentInfo":108,"targetDuration":4,"studyType":23,"phases":110,"briefSummary":112,"conditions":113,"keywords":4,"overallStatus":56,"whyStopped":4,"lastUpdateSubmitDate":114,"lastUpdatePostDateStruct":115,"startDateStruct":117,"completionDateStruct":119,"leadSponsor":121,"locationsCount":99},"100599594","phase-1-safety-and-preliminary-efficacy-of-ulsc-in-facioscapulohumeral-muscular-dystrophy-fshd-100599594","NCT07086521","Safety and Preliminary Efficacy of ULSC in Facioscapulohumeral Muscular Dystrophy (FSHD)","A Phase 1, Double-blinded, Randomized, Dose-repeating, Placebo-controlled, Cross-over Study to Assess the Safety and Preliminary Efficacy of Allogeneic ULSC on Disease Severity in Facioscapulohumeral Muscular Dystrophy (FSHD)","Inclusion Criteria:\n\n* Participants will be ≥15 years old.\n* Diagnosis of genetically confirmed FHSD 1 or FSHD 2.\n* Participants should have a Ricci clinical severity score of ≥3 (range is out of 0-10), at screening, and must be independently ambulatory at the time of the study.\n* Participant will have the ability to comply with the requirements of the study, including MRI.\n* All participants of reproductive age\u002Fcapacity will be required to use adequate contraception, defined as two forms of highly effective contraceptives, with any partners during the study period and for at least three months beyond the study period for safety.\n* Participant will have the ability to understand and provide written informed consent.\n* For those participants who are on drug(s) or supplements that may affect muscle function, as determined by the Investigator, participants must be on a stable dose of that drug(s) or supplement for at least 3 months prior to the first dose of study drug and remain on that stable dose for the duration of the study. This includes the following drug category:\n\n  o Immunomodulatory agents, including targeted biological therapies.\n* Reduced upper arm strength as measured by the Performance of Upper Limb score of ≤5.\n* Current and up-to-date immunizations.\n* Total relative reachable surface area (RSA) (Q1-Q4) without weight in the dominant upper extremity assessed by reachable workspace (RWS) ≥ 0.2 and ≤ 0.7.\n* No contraindications to MRI.\n* Hematocrit of ≤ 50%\n* Prostate-specific antigen ≤ 4.0 ng\u002FmL (or ≤ 3.0 ng\u002FmL if the participant has a first-degree relative with prostate cancer)\n* Fasting blood glucose \\\u003C126 mg\u002FdL\n\nExclusion Criteria:\n\n* Hypersensitivity to study product components including history of hypersensitivity to dimethyl sulfoxide (DMSO).\n* Active cancer or prior diagnosis of cancer within the past year (patients with basal and squamous cell cancer of skin will not be excluded).\n* Any other condition that, in the judgment of the Investigator or Sponsor, would be a contraindication to enrollment, study product administration, or follow-up.\n* Treatment with an investigational product within three months prior to randomization.\n* Known active opportunistic or life-threatening infections including Human Immunodeficiency virus (HIV) and hepatitis B or C.\n* Known active or inactive tuberculosis infection.\n* Use of a product that putatively enhances muscle growth or activity on a chronic basis within 4 weeks before baseline\n* Orally administered cytochrome P450 (CYP3A4) substrates and multidrug and toxin extrusion (MATE) and organic anion transporter (OAT)3 substrates are not permitted as concomitant therapy.\n* Statin treatment initiation or significant adjustment to statin regimen within 3 months before baseline (stable, chronic statin use is permissible).\n* Rapamycin treatment within 3 months before baseline.\n* Evidence of an alternative diagnosis other than FSHD or a coexisting myopathy or dystrophy, based on prior muscle biopsy or other available investigations.\n* Muscle biopsy within 30 days before baseline.\n* A systolic blood pressure over 160 or a diastolic pressure over 100\n* Heavy alcohol use (greater than 50g\u002Fday)\n* Current testosterone or HGH use\n* Current use of medications that interfere with the growth hormone or gonadal endocrine axis.\n* Pregnant of lactating participants.\n* Concomitant severe cardiac, pulmonary disease, active infection, or other conditions that preclude assessment of safety and efficacy of the study product.\n* Anticipated need for surgery during the trial period.\n* A history of prevalent noncompliance with medical therapy.\n* Recipient of an organ transplant.\n* Neutropenia (absolute neutrophil count \\\u003C1,800\u002Fmm\\^3 \\[or \\\u003C1,000\u002Fmm\\^3 in African-American participants\\]).\n* Severe impairment in renal function (estimated glomerular filtration rate \\\u003C30 ml\u002Fkg\\*min).\n* Recent of planned use of vaccination with live attenuated viruses.\n* Condition that would impair an assessment of muscle strength, including neurological disorders such as Parkinson's disease or severe musculoskeletal condition.","15 Years",{"count":109,"type":22},16,[111],"PHASE1","The goal of this clinical trial is to learn about how an umbilical cord lining-derived stem cell product (ULSC) performs when treating Facioscapulohumeral Muscular Dystrophy (FSHD) 1 or 2. It will assess safety and preliminary efficacy in relieving symptoms of FSHD with ULSC administered in two intravenous (IV) doses of 100 million cells per dose.\n\nThe main questions that this study plans to answer are:\n\n* Is ULSC as safe as placebo (a look-alike saline without cells) in repeated IV infusion?\n* Does ULSC improve symptoms of FSHD after each dose? Researchers will compare ULSC to placebo.\n\nParticipants will:\n\n* Have been diagnosed with FSHD of a Ricci clinical severity score 3 or more.\n* Participate in this study for total duration of 21 months with 11 in-person visits and 5 virtual visits.\n* Visit the clinic for a total of 4 IV infusions (250 mL) 3 months apart.\n* Receive 2 doses of ULSC and 2 doses placebo in either of two sequences, as assigned: ULSC first (Day 0 and Month 3) and placebo second (Month 6 and Month 9), or placebo first (Day 0 and Month 3) and ULSC second (Month 6 and Month 9).\n* Return for follow-up visits after each dose and up to 12 months after final dose.",[29],"2025-12-04",{"date":116,"type":60},"2025-12-08",{"date":118,"type":60},"2025-12-01",{"date":120,"type":22},"2029-03",{"name":122,"class":67},"Restem, LLC.",{"id":124,"slug":125,"hasResults":11,"nctId":126,"briefTitle":127,"officialTitle":127,"acronym":4,"eligibilityCriteria":128,"healthyVolunteers":11,"sex":17,"minAge":129,"maxAge":4,"enrollmentInfo":130,"targetDuration":4,"studyType":79,"phases":4,"briefSummary":132,"conditions":133,"keywords":136,"overallStatus":142,"whyStopped":4,"lastUpdateSubmitDate":143,"lastUpdatePostDateStruct":144,"startDateStruct":146,"completionDateStruct":148,"leadSponsor":150,"locationsCount":4},"100586596","muscle-mri-outlining-of-neuromuscular-diseases-using-artificial-intelligence-100586596","NCT06917430","Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence","Inclusion Criteria:\n\n* Genetically verified diagnosis of neuromuscular diseases.\n* Age above 18 years\n\nExclusion Criteria:\n\n* Contraindications to perform an MRI\n* Competing disorders and other muscle disorders, which may alter measurements. The investigator will decide whether the competing disorder can significantly influence the results","18 Years",{"count":131,"type":22},120,"Background and aim:\n\nNeuromuscular diseases encompass a range of conditions affecting muscle cells, nerves, or the interaction between the two. A common pathological feature of these conditions is the pro-gressive replacement of muscle tissue with fat, which can be visualised using magnetic reso-nance imaging (MRI). MRI-based fat quantification serves as a key biomarker for disease characterisation, progression tracking, and treatment assessment. Currently, manual segmenta-tion of MRI scans for fat quantification is very time-consuming, requiring individual muscle delineation. Therefore, an artificial intelligence (AI) model is being developed to automate the segmentation. The aim of this study is to validate this AI model and assess its possibilities and limitations.\n\nMethod:\n\nThe study is ongoing. Retrospective MRI scans of patients with four different muscle diseases (anoctaminopathy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and hypokalemic periodic paralysis) are collected and manual delineation used for training the AI-model is being performed. The intramuscular fat fraction of individual muscles of the pelvis, thigh, and calf will be analysed using the AI model. The performance of the AI model will be compared to manual segmentation. The AI will be evaluated on metrics such as segmentation accuracy and time efficiency.",[134,29,135],"Becker Muscular Dystrophy","Hypokalemic Periodic Paralysis",[137,138,139,140,28,141],"AI","muscle delineation","automated segmentation","Becker muscular dystrophy","HypoPP","NOT_YET_RECRUITING","2025-04-01",{"date":145,"type":60},"2025-04-08",{"date":147,"type":22},"2025-05-01",{"date":149,"type":22},"2035-01-01",{"name":151,"class":98},"Rigshospitalet, Denmark",{"id":153,"slug":154,"hasResults":11,"nctId":155,"briefTitle":156,"officialTitle":157,"acronym":158,"eligibilityCriteria":159,"healthyVolunteers":11,"sex":17,"minAge":160,"maxAge":4,"enrollmentInfo":161,"targetDuration":4,"studyType":79,"phases":4,"briefSummary":162,"conditions":163,"keywords":164,"overallStatus":56,"whyStopped":4,"lastUpdateSubmitDate":165,"lastUpdatePostDateStruct":166,"startDateStruct":168,"completionDateStruct":170,"leadSponsor":172,"locationsCount":99},"100586116","ten-year-follow-up-in-fshd-the-focus-3-study-100586116","NCT06911190","Ten Year Follow-up in FSHD: the FOCUS 3 Study","Ten Year Follow-up in FSHD; the FOCUS-3 Study","FSHD-FOCUS 3","Inclusion Criteria:\n\n* All 162 genetically confirmed FSHD patients that participated in the FSHD-FOCUS 2 and 18 genetically conformed pediatric FSHD patient that participated in the FSHD-iFocus study and are informed about the genetic confirmation of FSHD. The 65 newly included patients need to provide genetical confirmation of the disease.\n\nExclusion Criteria:\n\n* No incapacitated persons will be included in this study. Persons with contra-indications for MRI-scan are excluded for that one procedure, but can be included in the study. Contraindications for MRI-scan include metallic implants (vascular clips, foreign bodies like metallic splinters in the eye, coronary and peripheral artery stents, prosthetic heart valves, pacemakers and ICD's, cochlear implants, breast tissue expanders and some other electronic implants or devices), renal insufficiency, previous allergic reaction to contrast fluids and known claustrophobia.\n* Participant in medication trial","6 Years",{"count":21,"type":22},"This study aims to assess longitudinal data in 170 adult and 30 pediatric genetically and clinically well-defined facioscapulohumeral dystrophy (FSHD) patients. FSHD is a chronic progressive disorder associated with major disability due to loss of function and independence. The clinical variability of FSHD is partially explained by currently known (epi)genetic factors. Identifying the variables that influence the clinical variability is essential for developing targeted therapies. Furthermore, it is crucial to assess the natural course, determine sensitive outcome measures and biomarkers to prepare for future trials. Objective This is a longitudinal study on 200 Dutch FSHD patients with a follow-up of ten years. We will hereby assess the natural disease course; determine the sensitivity to change of clinical outcome measures and muscle imaging; validate newly developed outcome measures; and help identify biomarkers and modulators of disease severity.\n\nStudy population: Genetically proven FSHD patients: All 162 patients that participated in the FSHD-FOCUS study, together with all 18 pediatric patients that participated in the iFocus study , and additional 65 newly included patients. Main study parameters\u002Fendpoints: Natural history will be assessed by 'traditional' clinical outcome measures: Motor Function Measure D1, Ricci-score, MRC scores and FSHD clinical score for adults. Additionally in children shoulder dysfunction performance of upper limb and Facial weakness score will be assessed. Natural history will also be quantified using newer clinical outcome measures and patient-reported measures: Reachable workspace, FSHD-RODS and FSHD Facial Function scale in adults. In children, Reachable workspace and FSHD-COM Peds will be assessed. Muscle MRI and ultrasound will be performed to determine progression of fat replacement, fibrosis, and muscle inflammation.\n\nFurthermore, blood samples will be taken in adult participants for (epi)genetic analysis on disease modifying factors, and for storage in the Radboudumc biobank for future research (e.g. on biomarkers). Nature and extent of the burden and risks associated with participation, benefit and group relatedness: Participants will be asked for a visit to the outpatient clinic at the department of neurology. Their medical history will be taken and they will undergo a clinical examination. Several questionnaires can be completed at home through on online system (Castor). Blood samples will be collected in adult patients, a magnetic resonance imaging (MRI) of muscles of both legs (in adults and adolescents) and muscle ultrasound of multiple skeletal muscles will be performed. Spirometry will be performed in a small subset of adult participants. We classify the risk of this study as negligible.",[29],[28,88,30,31],"2025-03-28",{"date":167,"type":60},"2025-04-04",{"date":169,"type":60},"2024-09-01",{"date":171,"type":22},"2025-12-30",{"name":173,"class":98},"Radboud University Medical Center"]