[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100658754":3},{"organization":4,"outcomesModule":7,"designInfo":80,"detailedDescription":93,"studyPopulation":11,"armGroups":94,"interventions":113,"overallOfficials":11,"centralContacts":129,"locations":135,"responsibleParty":273,"collaborators":11,"id":275,"slug":276,"hasResults":277,"nctId":278,"briefTitle":279,"officialTitle":280,"acronym":11,"eligibilityCriteria":281,"healthyVolunteers":277,"sex":282,"minAge":283,"maxAge":284,"enrollmentInfo":285,"targetDuration":11,"studyType":288,"phases":289,"briefSummary":292,"conditions":293,"keywords":295,"overallStatus":138,"whyStopped":11,"lastUpdateSubmitDate":301,"lastUpdatePostDateStruct":302,"startDateStruct":305,"completionDateStruct":307,"leadSponsor":309,"locationsCount":310},{"fullName":5,"class":6},"Genethon","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":34,"otherOutcomes":11},[9,13,15,18,20,23,25,27,31],{"measure":10,"description":11,"timeFrame":12},"PART 1 - Safety Outcomes: Incidence of adverse events (AEs), serious adverse events (SAEs), adverse events of special interest (AESIs), adverse drug reactions (ADRs) and clinically significant laboratory and clinical examination findings",null,"From the Screening Visit through the end of Part 1 (Week 12)",{"measure":14,"description":11,"timeFrame":12},"PART 1 - Immunogenicity Outcomes: Antibodies to AAV8, antibodies to recombinant dystrophin (hMD1) and of cellular immune biomarkers (ELISPOT tests)",{"measure":16,"description":11,"timeFrame":17},"PART 1: Vector shedding quantification in blood, urine, saliva, feces (DNA level)","Once a week through Week 12",{"measure":19,"description":11,"timeFrame":12},"PART 1: Percentage change from baseline on Creatine kinase (CK) in blood over time",{"measure":21,"description":11,"timeFrame":22},"PART 1: Quantification of Microdystrophin positive myofibers level from muscle biopsy at Week 8","Week 8",{"measure":24,"description":11,"timeFrame":22},"PART 1: Quantification of Microdystrophin protein expression from muscle biopsy at Week 8",{"measure":26,"description":11,"timeFrame":12},"PART 1: Quantification of vector copy number (VCN) over time",{"measure":28,"description":29,"timeFrame":30},"PART 2: Change from baseline in the North Star Ambulatory Assessment (NSAA) total score at Month 18","The NSAA is a validated unidimensional functional scale for ambulant male patients with DMD. An age-appropriate modified NSAA validated for young ambulant male patients from the age of 3 years with DMD is used in this study.\n\nThis scale consists of 17 functional assessments, ranging from standing to running and includes several items assessing abilities that are necessary to remain functionally ambulant in the context of DMD. Each item can be scored on a 3 point-scale from 2 (\"achieves goal without any assistance\") to 0 (\"unable to achieve independently\"). A total score (maximum \"34\", minimum \"0\") is obtained by summing all the individual items, with higher scores reflecting better functional performance.","From the Screening Visit to Month 18 (Week 78)",{"measure":32,"description":11,"timeFrame":33},"PART 3 - Safety Outcomes: Incidence of adverse events (AEs), serious adverse events (SAEs), adverse events of special interest (AESIs), adverse drug reactions (ADRs) and clinically significant laboratory and clinical examination findings","From the end of Part 1 or Part 2 to 5 years post-treatment administration",[35,38,40,42,44,46,49,51,53,55,58,60,62,64,66,68,71,74,76,78],{"measure":36,"description":11,"timeFrame":37},"PART 2 - Safety Outcomes: Incidence of adverse events (AEs), serious adverse events (SAEs), adverse events of special interest (AESIs), adverse drug reactions (ADRs) and clinically significant laboratory and clinical examination findings","From the Screening Visit through the end of Part 2 (Month 18\u002FWeek 78)",{"measure":39,"description":11,"timeFrame":37},"PART 2: Percentage change from baseline on Creatine kinase (CK) in blood over time",{"measure":41,"description":11,"timeFrame":22},"PART 2: Quantification of Microdystrophin positive myofibers level from muscle biopsy at Week 8",{"measure":43,"description":11,"timeFrame":22},"PART 2: Quantification of Microdystrophin protein expression from muscle biopsy at Week 8",{"measure":45,"description":11,"timeFrame":37},"PART 2: Quantification of vector copy number (VCN)",{"measure":47,"description":11,"timeFrame":48},"PART 2: Change from baseline on stride velocity 95th centile (SV95C) at Month 18","Month 18 (Week 78)",{"measure":50,"description":11,"timeFrame":48},"PART 2: Change from baseline on time to rise from floor (RFF) test at Month 18",{"measure":52,"description":11,"timeFrame":48},"PART 2: Change from baseline on Time to 10 Meters Walk\u002FRun Test (10MW\u002FRT) at Month 18",{"measure":54,"description":11,"timeFrame":48},"PART 2: Change from baseline on ACTIVLIM (patient reported outcome questionnaire) at Month 18",{"measure":56,"description":11,"timeFrame":57},"PART 2: Change from baseline on 4-Stair Climbing (4SC) time over 18 months","From Day 0 visit through the end of Part 2 (Month 18\u002FWeek 78)",{"measure":59,"description":11,"timeFrame":37},"PART 2: Change from baseline on MyoTools (Grip, Pinch) assessments over 18 months",{"measure":61,"description":11,"timeFrame":37},"PART 2: Change from baseline of muscle-fat replacement (fat fraction, FF, in %) and progression in glutei and thigh muscle groups over 18 months assessed through muscle Magnetic Resonance Imaging (MRI)",{"measure":63,"description":11,"timeFrame":37},"PART 2: Change from baseline of muscle volume in glutei and thigh muscle groups (contractile cross-sectional area cCSA, in mm2) over 18 months assessed through muscle Magnetic Resonance Imaging (MRI)",{"measure":65,"description":11,"timeFrame":57},"PART 2: EQ-5D evolution over 18 months",{"measure":67,"description":11,"timeFrame":57},"PART 2: PedsQL™ Duchenne Muscular Dystrophy Module evolution over 18 months",{"measure":69,"description":11,"timeFrame":70},"PART 3: Percentage change from pre active IMP administration level on blood Creatine kinase (CK) over time","From the Screening Visit through the end of Part 3 (5 years post-treatment administration)",{"measure":72,"description":29,"timeFrame":73},"PART 3: Change from baseline in the North Star Ambulatory Assessment (NSAA) total score over time","Up to 5 years post GNT0004 infusion",{"measure":75,"description":11,"timeFrame":73},"PART 3: Change from baseline on Forced Vital Capacity (FVC) over time",{"measure":77,"description":11,"timeFrame":73},"PART 3: Change from baseline on Forced Expiratory Volume in one second (FEV1) over time",{"measure":79,"description":11,"timeFrame":73},"PART 3: Change from baseline of muscle-fat replacement (fat fraction, FF, in %) and progression in glutei and thigh muscle groups over time assessed through muscle Magnetic Resonance Imaging (MRI)",{"allocation":81,"interventionModel":82,"interventionModelDescription":83,"primaryPurpose":84,"observationalModel":11,"timePerspective":11,"maskingInfo":85},"RANDOMIZED","CROSSOVER","This Phase I\u002FII\u002FIII (All-in-one) study includes 3 parts. Part 1 (phase I\u002FII): Dose escalation (cohorts C1 and C2), open-label, sequential enrollment. Part 2 (phase III): quadruple blind, placebo-controlled, randomized (ratio 1:1) to either GNT0004 or placebo group. Part 3: Crossover to the alternate treatment after the 18-month pivotal parallel evaluation period for Part 2 participants. Long term safety and efficacy follow-up for all participants enrolled in Parts 1 and 2.","TREATMENT",{"masking":86,"maskingDescription":87,"whoMasked":88},"QUADRUPLE","Part 1 will be open label. Part 2 will be quadruple blind (participant\u002Fparents, investigators, nurses\u002Fphysiotherapist and sponsor)",[89,90,91,92],"PARTICIPANT","CARE_PROVIDER","INVESTIGATOR","OUTCOMES_ASSESSOR","The study includes 3 parts. Part 1: A dose-escalation part where two dose levels were studied in five DMD boys. Based on the review of the first 12 weeks of data, the higher dose (3×10¹³ vg\u002Fkg) was considered the most efficient dose of GNT0004 with an acceptable safety profile and was selected for Part 2. This part was completed. Part 2: A confirmatory part to evaluate the efficacy and side effects of GNT0004. Participants are randomly assigned to receive either GNT0004 or placebo in a blinded manner. This part lasts 18 months. After 18 months, participants initially receiving placebo will receive GNT0004, and those initially receiving GNT0004 will receive placebo. Part 3: A long-term follow-up part in which all participants who received GNT0004 in Parts 1 and 2 will be followed for a total of 5 years from dosing to monitor potential late-onset side effects and assess the duration of the treatment's beneficial effects. The five participants from Part 1 are currently being followed in Part 3.",[95,101,106,110],{"label":96,"type":97,"description":98,"interventionNames":99},"Part 1 - Cohort 1","EXPERIMENTAL","First cohort of the dose determination part (Part 1)",[100],"Genetic: GNT0004 (1x10e13 vg\u002Fkg)",{"label":102,"type":97,"description":103,"interventionNames":104},"Part 1 - Cohort 2","Second cohort of the dose determination part (Part 1)",[105],"Genetic: GNT0004 (3x10e13 vg\u002Fkg)",{"label":107,"type":97,"description":11,"interventionNames":108},"GNT0004 in Part 2 followed by placebo in Part 3",[105,109],"Genetic: Placebo",{"label":111,"type":97,"description":11,"interventionNames":112},"Placebo in Part 2 followed by GNT0004 in Part 3",[105,109],[114,121,125],{"type":115,"name":116,"description":117,"armGroupLabels":118,"otherNames":119},"GENETIC","GNT0004 (1x10e13 vg\u002Fkg)","Single intravenous administration of GNT0004",[96],[120],"rAAV2\u002F8-Spc5-12-hMD1",{"type":115,"name":122,"description":117,"armGroupLabels":123,"otherNames":124},"GNT0004 (3x10e13 vg\u002Fkg)",[107,102,111],[120],{"type":115,"name":126,"description":127,"armGroupLabels":128,"otherNames":11},"Placebo","Single intravenous administration of GNT0004 placebo (IMP placebo)",[107,111],[130],{"name":131,"role":132,"phone":133,"phoneExt":11,"email":134},"Medical Lead","CONTACT","+33 01 69 47 25 38","contact@genethon.fr",[136,149,158,168,179,188,197,206,215,224,233,244,253,264],{"facility":137,"status":138,"city":139,"state":11,"zip":140,"country":141,"countryCode":142,"cosmosGeoPoint":143,"geoPoint":148,"contacts":11},"Hôpital Universitaire des Enfants Reine Fabiola","RECRUITING","Brussels","1020","Belgium","BE",{"type":144,"coordinates":145},"Point",[146,147],4.34878,50.85045,{"lat":147,"lon":146},{"facility":150,"status":138,"city":151,"state":11,"zip":152,"country":141,"countryCode":142,"cosmosGeoPoint":153,"geoPoint":157,"contacts":11},"UZ Leuven","Leuven","3000",{"type":144,"coordinates":154},[155,156],4.70093,50.87959,{"lat":156,"lon":155},{"facility":159,"status":160,"city":161,"state":11,"zip":162,"country":141,"countryCode":142,"cosmosGeoPoint":163,"geoPoint":167,"contacts":11},"Hôpital de la Citadelle","NOT_YET_RECRUITING","Liège","4000",{"type":144,"coordinates":164},[165,166],5.56749,50.63373,{"lat":166,"lon":165},{"facility":169,"status":138,"city":170,"state":11,"zip":171,"country":172,"countryCode":173,"cosmosGeoPoint":174,"geoPoint":178,"contacts":11},"University Hospital of Bordeaux","Bordeaux","33076","France","FR",{"type":144,"coordinates":175},[176,177],-0.58046,44.84124,{"lat":177,"lon":176},{"facility":180,"status":138,"city":181,"state":11,"zip":182,"country":172,"countryCode":173,"cosmosGeoPoint":183,"geoPoint":187,"contacts":11},"Brest University Hospital Centre","Brest","29609",{"type":144,"coordinates":184},[185,186],-4.48628,48.39029,{"lat":186,"lon":185},{"facility":189,"status":138,"city":190,"state":11,"zip":191,"country":172,"countryCode":173,"cosmosGeoPoint":192,"geoPoint":196,"contacts":11},"Hôpital Femme Mère Enfant","Bron","69677",{"type":144,"coordinates":193},[194,195],4.91303,45.73865,{"lat":195,"lon":194},{"facility":198,"status":138,"city":199,"state":11,"zip":200,"country":172,"countryCode":173,"cosmosGeoPoint":201,"geoPoint":205,"contacts":11},"CHU Lille","Lille","59037",{"type":144,"coordinates":202},[203,204],3.05512,50.63391,{"lat":204,"lon":203},{"facility":207,"status":160,"city":208,"state":11,"zip":209,"country":172,"countryCode":173,"cosmosGeoPoint":210,"geoPoint":214,"contacts":11},"Centre Hospitalier Universitaire De Montpellier","Montpellier","34090",{"type":144,"coordinates":211},[212,213],3.87635,43.61093,{"lat":213,"lon":212},{"facility":216,"status":138,"city":217,"state":11,"zip":218,"country":172,"countryCode":173,"cosmosGeoPoint":219,"geoPoint":223,"contacts":11},"Institut I-Motion, Hôpital Armand Trousseau","Paris","75012",{"type":144,"coordinates":220},[221,222],2.3488,48.85341,{"lat":222,"lon":221},{"facility":225,"status":138,"city":226,"state":11,"zip":227,"country":172,"countryCode":173,"cosmosGeoPoint":228,"geoPoint":232,"contacts":11},"Hôpitaux Universitaires de Strasbourg","Strasbourg","67098",{"type":144,"coordinates":229},[230,231],7.74553,48.58392,{"lat":231,"lon":230},{"facility":234,"status":138,"city":235,"state":11,"zip":236,"country":237,"countryCode":238,"cosmosGeoPoint":239,"geoPoint":243,"contacts":11},"Hospital Sant Joan de Déu Barcelona","Esplugues de Llobregat","08950","Spain","ES",{"type":144,"coordinates":240},[241,242],2.08809,41.37732,{"lat":242,"lon":241},{"facility":245,"status":160,"city":246,"state":11,"zip":247,"country":237,"countryCode":238,"cosmosGeoPoint":248,"geoPoint":252,"contacts":11},"Hospital Universitario y Politécnico La Fe","Valencia","46026",{"type":144,"coordinates":249},[250,251],-0.37966,39.47391,{"lat":251,"lon":250},{"facility":254,"status":138,"city":255,"state":11,"zip":256,"country":257,"countryCode":258,"cosmosGeoPoint":259,"geoPoint":263,"contacts":11},"Great Ormond Street Hospital for Children","London","WC1N 3JH","United Kingdom","UK",{"type":144,"coordinates":260},[261,262],-0.12574,51.50853,{"lat":262,"lon":261},{"facility":265,"status":160,"city":266,"state":11,"zip":267,"country":257,"countryCode":258,"cosmosGeoPoint":268,"geoPoint":272,"contacts":11},"The Newcastle upon Tyne Hospitals NHS Foundation Trust","Newcastle upon Tyne","NE7 7DN",{"type":144,"coordinates":269},[270,271],-1.61396,54.97328,{"lat":271,"lon":270},{"type":274,"investigatorFullName":11,"investigatorTitle":11,"investigatorAffiliation":11,"oldNameTitle":11,"oldOrganization":11},"SPONSOR","100658754","phase-2-a-clinical-study-to-assess-safety-efficacy-and-pharmacodynamic-profile-of-gnt0004-in-duchenne-muscular-dystrophy-100658754",false,"NCT07856329","A Clinical Study to Assess Safety, Efficacy and Pharmacodynamic Profile of GNT0004 in Duchenne Muscular Dystrophy","Microdystrophin (GNT0004) Gene Therapy Clinical Trial in Duchenne Muscular Dystrophy: A Phase I\u002FII\u002FIII Study With a Dose Determination Part Followed by an Efficacy and Safety Evaluation, Quadruple Blind Placebo-controlled Part and Then by a Long-term Safety Follow up Part, in Ambulant Boys","Inclusion Criteria:\n\n1. Ambulant male.\n2. Being included in the GNT-014-MDYF study.\n3. 6 to 10 years (inclusive).\n4. For participants enrolled in Part 1: BMI scale ≤ 75th percentile. For participants enrolled in Part 2: Body weight ≤ 95th percentile of the BMI or body weight scale.\n5. Positive genetic testing with detailed genotyping confirmation of DMD.\n6. Able to achieve a score in the North Star Ambulatory Assessment (NSAA) scale ≥ 18 at the screening visit.\n7. Stable or descending evolution in the NSAA total score during the last assessment periods recorded in study GNT-014-MDYF.\n8. Gowers test (Time to Rise From Floor) ≤ 7 sec.\n9. Ongoing corticosteroid therapy according to standard of care: for at least 6 months before the screening.\n10. Up to date vaccination record.\n11. Willing and able to comply with all protocol requirements and procedures.\n12. Signed informed consents and assent as required by local law.\n13. Affiliated\u002Fbeneficiary of an insurance health care scheme or National Health service (if required by local law).\n\nExclusion Criteria:\n\n1. DMD patients with any mutations affecting: exons 1 through 17, for Part 1 participants; affecting exons 8 and\u002For 9 for Part 2 participants.\n2. Presence of neutralizing antibodies against AAV8.\n3. Cardiomyopathy based on physical\u002Fcardiological examination and echocardiography (or cardiac MRI if available).\n4. Any respiratory assistance needed including non-invasive daytime or nocturnal ventilation.\n5. Inability to perform the planned respiratory functions tests.\n6. Any co-morbidity (ies) and\u002For previous or planned surgical event(s), which may interfere with DMD evolution \u002For evaluation of patient's safety or Investigational Medicinal Product (IMP)'s tolerability.\n7. Acute infection that is not expected to be fully resolved for a sufficient time before gene therapy administration.\n8. Clinically significant laboratory abnormality values as per protocol.\n9. Inability to cooperate with muscle strength and functional assessments.\n10. Nuclear Magnetic Resonance Imaging (MRI) contraindications: metal implants, or other contraindication for MRI such as severe phobia.\n11. Unwilling and\u002For unable to comply with all the study protocol requirements and\u002For procedures.\n12. Chronic hepatitis B or C, i.e., positive hepatitis B surface antigen or hepatitis C RNA viral load positive.\n13. Previous inclusion to another clinical trial with any non-gene therapy related.\n14. Previously treated with any drugs that may interfere with either natural diasease course and\u002For IMP evaluation (except for corticosteroid therapy), the last dose administration less than protocol defined washout period.\n15. Received any of the treatment designed to increase dystrophin expression (e.g., exon skipping or stop codon read-through agents for DMD) within protocol defined period prior to screening.\n16. Previous gene therapy for DMD.","MALE","6 Years","10 Years",{"count":286,"type":287},77,"ESTIMATED","INTERVENTIONAL",[290,291],"PHASE2","PHASE3","GNT0004 is a recombinant adeno-associated viral (AAV) vector gene therapy composed of an AAV8 serotype capsid containing a sequence-optimized gene for a human microdystrophin. Duchenne muscular dystrophy (DMD) is a neuromuscular disorder caused by dystrophin gene mutations leading to absence of functional dystrophin, a key protein that prevents muscle cell damage during physiological contractions. To address the underlying cause of the disease, GNT0004 delivers an optimized dystrophin gene that is capable to produce a shortened but functional dystrophin protein in target tissues (heart and skeletal muscles) in DMD subjects. It is expected to significantly delay or slow disease progression. GNT0004 will be given as a one-time intravenous (IV) infusion to help it reach muscles throughout the body.",[294],"Duchene Muscular Dystrophy",[296,297,298,299,300],"DMD","ambulant","gene therapy","AAV","microdystrophine","2026-10-07",{"date":303,"type":304},"2026-10-13","ACTUAL",{"date":306,"type":304},"2021-03-01",{"date":308,"type":287},"2028-10-01",{"name":5,"class":6},14]