[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"muscular-dystrophy-facioscapulohumeral\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:muscular-dystrophy-facioscapulohumeral":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,46,74,98,133,158],{"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":23,"briefSummary":26,"conditions":27,"keywords":29,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100526226","phase-1-study-of-aro-dux4-in-adult-and-adolescent-patients-with-facioscapulohumeral-muscular-dystrophy-type-1-100526226",false,"NCT06131983","Study of SRP-1001 in Adult and Adolescent Participants With Facioscapulohumeral Muscular Dystrophy Type 1","A Phase 1\u002F2a Dose-Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of ARO-DUX4 (SRP-1001) in Adult Patients and Adolescent Patients With Facioscapulohumeral Muscular Dystrophy Type 1","Key Inclusion Criteria:\n\n* Genetically confirmed FSHD1 based on screening evaluation or source verifiable medical record\n* Clinical severity score between 3 and 8 (scale, 0 to 10)\n* Must have an eligible lower extremity muscle for biopsy as determined from MRI by a central reader, with muscle fat fraction ≥10% and less than approximately 40%\n* Males or nonpregnant, nonlactating females ≥18 years of age who do not plan to become pregnant during the study, with an upper age limit of ≤70 years\n* Able and willing to provide written informed consent prior to the performance of any study specific procedures\n* Participants with a body mass index (BMI) between 18.0 and 35.0 kilograms\u002Fsquare meter, inclusive. A participant with FSHD1 and a BMI outside this range may be allowed into the study at the discretion of the principal investigator.\n* Must have eligible lower extremity muscle for biopsy as determined from MRI by a central reader\n* A 12-lead electrocardiogram at screening with no abnormalities that may compromise participant's safety in the study\n* Participants of childbearing potential and their partners must use highly effective contraception during the study and for at least 9 months following the end of study or last dose of study medication, whichever is later. Males must not donate sperm during the study from Day 1 until at least 9 months following the end of study or last dose of study medication, whichever is later.\n\nKey Exclusion Criteria:\n\n* Human immunodeficiency virus (HIV) infection as shown by presence of anti-HIV antibody (seropositive) at screening\n* Seropositive for hepatitis B or hepatitis C at screening\n* Uncontrolled hypertension\n* Severe cardiovascular disease\n* History of thrombolic events\n* Platelet count less that the lower limit of normal at screening\n* History or presence of: a hypercoagulable state, nephrotic range proteinuria, antiphospholipid antibody syndrome, myeloproliferative disease, inability to ambulate, use of hormone-based contraceptives.\n* Any contraindication to muscle biopsy or MRI\n\nNote: additional inclusion\u002Fexclusion criteria may apply per protocol","ALL","16 Years","70 Years",{"count":20,"type":21},60,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics of SRP-1001 in participants with facioscapulohumeral muscular dystrophy Type 1 (FSHD1). In Part 1 of the study, participants will receive one dose of SRP-1001 or placebo. In Part 2 of the study, participants will receive 4 doses of SRP-1001 or placebo. Participants who complete Part 1 will have the option to re-screen and re-randomize into Part 2. All participants will undergo pre- and post-dose magnetic imaging resonance (MRI)-guided muscle biopsies (a total of 2 biopsies). Participants who complete Part 1 and enroll in Part 2 will be required to undergo an additional screening biopsy. Participants completing Part 1 or Part 2 may have the option to continue to receive drug in an open-label extension study or may be eligible to participate in later-stage clinical studies.",[28],"Muscular Dystrophy, Facioscapulohumeral",[30,31,32],"Facio-Scapulo-Humeral Muscular Dystrophy","SRP-1001","ARO-DUX4","RECRUITING","2026-08-07",{"date":36,"type":37},"2026-08-11","ACTUAL",{"date":39,"type":37},"2024-06-19",{"date":41,"type":21},"2028-12-31",{"name":43,"class":44},"Sarepta Therapeutics, Inc.","INDUSTRY",16,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":50,"acronym":51,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":16,"minAge":53,"maxAge":54,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":58,"conditions":59,"keywords":60,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":63,"lastUpdatePostDateStruct":64,"startDateStruct":66,"completionDateStruct":68,"leadSponsor":70,"locationsCount":73},"100581205","motor-outcomes-to-validate-evaluations-in-pediatric-fshd-move-peds-100581205","NCT06847282","Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds)","MOVE Peds","Inclusion Criteria:\n\n* Age 5-17 years.\n* Genetically confirmed FSHD (types 1 or 2).\n* Symptomatic weakness (facial, shoulder, core, or limb weakness)\n* Able to complete a 10-meter walk without the support of another person in less than 12 seconds (canes, walking sticks, and braces allowed; no walker). In order to include early onset participants up to 8 individuals will be entered with baseline 10MWR \\> 12 seconds or who are no longer ambulatory (≤10%)\n\nExclusion Criteria:\n\n* Unwilling or unable to provide informed consent or assent. Any other medical condition which in the opinion of the investigator would interfere with study participation.\n* Malignancy with ongoing treatment with chemotherapeutic agents or anabolic agents\n* Use of immunosuppressants including prednisone or performance enhancing drugs including testosterone within 6 months\n* Pregnancy\n* Recent or ongoing infection\n* Presence of contraindication to performance of MRI: pacemaker, metallic foreign body in eye, brain aneurysm clip (unless documented as MRI compatible)\n* In the opinion of the investigator unable to follow directions for standardized testing\n\n  * Note: Not being able to complete MRI will not result in a screen failure. If subject is not able to complete the procedure due to fear or anxiety, they will have the opportunity to try again at later visits. However, Subject must be willing to attempt to perform the MRI to meet inclusion\u002Fexclusion criteria","5 Years","17 Years",{"count":56,"type":21},80,"OBSERVATIONAL","The primary goal of this study is to validate motor and functional outcomes and refine clinical trial strategies for pediatric-onset FSHD",[28],[61,62],"FSHD","Pediatric","2026-02-24",{"date":65,"type":37},"2026-02-25",{"date":67,"type":37},"2025-05-22",{"date":69,"type":21},"2028-05",{"name":71,"class":72},"University of Kansas Medical Center","OTHER",7,{"id":75,"slug":76,"hasResults":11,"nctId":77,"briefTitle":78,"officialTitle":79,"acronym":80,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":16,"minAge":82,"maxAge":83,"enrollmentInfo":84,"targetDuration":4,"studyType":22,"phases":86,"briefSummary":87,"conditions":88,"keywords":89,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":63,"lastUpdatePostDateStruct":90,"startDateStruct":91,"completionDateStruct":93,"leadSponsor":95,"locationsCount":97},"100571518","phase-1-clenbuterol-to-target-dux4-in-fshd-100571518","NCT06721299","Clenbuterol to Target DUX4 in FSHD","Clenbuterol to Target DUX4 in FSHD (Target FSHD): Open Label Safety and Tolerability Study of 3 Doses of Clenbuterol","Target FSHD","Inclusion Criteria:\n\n* Genetically confirmed diagnosis of FSHD type 1 or 2, or have a clinical diagnosis of FSHD type 1 with a first degree relative with confirmed mutation\n* between 18 and 75 years of age\n* with a clinical severity score between 0 and 10\n* Able to walk 30ft without support of another person\n* Showing anti-gravity strength on at least one of the tibialis anterior muscles or having an MRI eligible muscle in the leg for needle biopsy\n* willing and able to provide informed consent\n* agree to follow the contraceptive requirement for duration of the study\n\nExclusion Criteria:\n\n* Pregnant or planning to become pregnant during the conduct of the study\n* have a poorly controlled medical condition\n* Were involved in a study of an experimental agent within 3 months of enrollment\n* Are taking beta-blockers or anabolic agent or potassium wasting diuretics\n* Are taking or are planning to take a GLP-1 Agonist during trial\n* have any condition or contraindication which would interfere with testing or preclude use of beta-agonist\n* Are taking blood thinners or medications which make a needle muscle biopsy contra-indicated\n* Has contraindication to lactose such as galactosmia, lactase deficiency and glucose-galactose malabsorption. For those who are lactose intolerant, the PI will determine acceptability based on tolerance reaction to lactose\n* Are taking any medications or therapies with a contraindication to Clenbuterol","18 Years","75 Years",{"count":85,"type":21},30,[24],"The purpose of this study is to determine if Clenbuterol is a therapeutic option for FSHD by determining the safety and tolerability of the medication at three different dose levels.",[28],[61],{"date":65,"type":37},{"date":92,"type":37},"2025-06-25",{"date":94,"type":21},"2028-07",{"name":96,"class":72},"Jeffrey Statland",3,{"id":99,"slug":100,"hasResults":11,"nctId":101,"briefTitle":102,"officialTitle":102,"acronym":4,"eligibilityCriteria":103,"healthyVolunteers":11,"sex":16,"minAge":104,"maxAge":4,"enrollmentInfo":105,"targetDuration":107,"studyType":57,"phases":4,"briefSummary":108,"conditions":109,"keywords":119,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":123,"lastUpdatePostDateStruct":124,"startDateStruct":126,"completionDateStruct":128,"leadSponsor":130,"locationsCount":132},"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":106,"type":21},5000,"100 Years","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",[110,111,112,113,61,114,115,116,117,118,28],"FSH","FSH Muscular Dystrophy","FSHD - Facioscapulohumeral Muscular Dystrophy","FSHD1","FSHD2","Facioscapulohumeral Muscular Dystrophy","Facioscapulohumeral Muscular Dystrophy 1","Facioscapulohumeral Muscular Dystrophy 2","Facioscapulohumeral Muscular Dystrophy (FSHD)",[61,120,111,113,114,121,122],"Registry","Facioscapulohumeral dystrophy","facioscapulohumeral muscular dystrophy","2026-02-19",{"date":125,"type":37},"2026-02-20",{"date":127,"type":37},"2024-08-02",{"date":129,"type":21},"2060-01",{"name":131,"class":72},"FSHD Society",1,{"id":134,"slug":135,"hasResults":11,"nctId":136,"briefTitle":137,"officialTitle":138,"acronym":139,"eligibilityCriteria":140,"healthyVolunteers":141,"sex":16,"minAge":82,"maxAge":18,"enrollmentInfo":142,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":144,"conditions":145,"keywords":146,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":149,"lastUpdatePostDateStruct":150,"startDateStruct":152,"completionDateStruct":154,"leadSponsor":156,"locationsCount":132},"100533543","magnetic-resonance-imaging-and-ultrasound-comparison-with-load-evaluation-100533543","NCT06227182","Magnetic Resonance Imaging and Ultrasound Comparison With Load Evaluation","Ultrasound and Magnetic Resonance Imaging for Assessing Muscle Contractile Performance in FSHD - An Exploratory Study","MUSCLE+","Inclusion Criteria:\n\n* Age between 18 and 70 years.\n* Informed consent is given by the participant.\n* Ability to read and understand written and spoken instruction in Dutch.\n* Willingness and ability to understand nature and content of the study\n\nExclusion Criteria:\n\n* BMI ≥ 35\n* Other diseases that could diffusely affect muscle integrity or disturb the imaging appearance beyond that what can be extrapolated.\n* Wheelchair dependence\n* Pregnancy\n* Stage II: Any contra-indications for MRI, including:\n\n  * Claustrophobia\n  * Pacemakers and defibrillators\n  * Nerve stimulators\n  * Intracranial clips\n  * Intraorbital or intraocular metallic fragments\n  * Cochlear implants and ferromagnetic implants (e.g. implant for scoliosis)\n  * Inability to lie supine for 60 minutes\n  * Necessity of (continuous) daytime ventilation\n  * Scoliosis surgery",true,{"count":143,"type":21},100,"Facioscapulohumeral dystrophy (FSHD) is one of the most common hereditary neuromuscular disorders (NMD), with an estimated prevalence of 2000 patients in the Netherlands. Magnetic resonance imaging (MRI) and muscle ultrasound have contributed to an enhanced understanding of the pathophysiology of Facioscapulohumeral Muscular Dystrophy (FSHD). Previously, our group demonstrated the potential presence of an intermediate factor between muscle fiber loss and clinical weakness in FSHD. The influence of disrupted muscle architecture in FSHD on muscle contractile efficiency is a likely candidate for this factor, and remains relatively unexplored. In this study, we aim to assess the use of ultrasound-defined contractile performance, in comparison with current measures including structural MRI, for monitoring disease progression in FSHD.",[28],[147,148],"Magnetic Resonance Imaging","Muscle Ultrasound","2025-01-10",{"date":151,"type":37},"2025-01-13",{"date":153,"type":37},"2024-04-10",{"date":155,"type":21},"2027-01-31",{"name":157,"class":72},"Radboud University Medical Center",{"id":159,"slug":160,"hasResults":11,"nctId":161,"briefTitle":162,"officialTitle":162,"acronym":4,"eligibilityCriteria":163,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":164,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":166,"conditions":167,"keywords":168,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":172,"lastUpdatePostDateStruct":173,"startDateStruct":175,"completionDateStruct":177,"leadSponsor":179,"locationsCount":132},"100555854","disease-burden-and-living-situation-of-patients-with-facioscapulohumeral-muscular-dystrophy-100555854","NCT06517498","Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy","Inclusion Criteria:\n\n* Having been diagnosed as Facioscapulohumeral Muscular Dystrophy\n\nExclusion Criteria:\n\n* No",{"count":165,"type":21},300,"The goal of this observational study is to learn the patient journey, disease burden, living situation, quality of life and etc. in patients with Facioscapulohumeral Muscular Dystrophy in all sex\u002Fgender and age groups. The main questions it aims to answer are:\n\n1. What's the patient journey of patients with Facioscapulohumeral Muscular Dystrophy?\n2. How does Facioscapulohumeral Muscular Dystrophy burden the patients?\n3. How's the quality of life of patients with Facioscapulohumeral Muscular Dystrophy?\n\nPatients with Facioscapulohumeral Muscular Dystrophy will be asked to:\n\n1. fill a questionnaire.\n2. be interviewed and answer questions about their illness experience, economic burden, quality of life and etc.\n\nMedical experts on Facioscapulohumeral Muscular Dystrophy will be asked to be interviewed and answer questions about understanding on the disease and the patients.",[28],[115,169,170,171],"Disease Burden","Quality of Life","Living Situation","2024-07-18",{"date":174,"type":37},"2024-07-24",{"date":176,"type":37},"2024-03-01",{"date":178,"type":21},"2025-07",{"name":180,"class":72},"Xi'an Jiaotong University"]