罕见病知识库 RareSeen

进行性肌营养不良症

Progressive muscular dystrophy

ORPHA:206644疾病组中国目录 第1批 · 98

相关基因 60来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因名称来源条目
ABCD3ATP binding cassette subfamily D member 3ORPHA:98897
ACTA1actin alpha 1, skeletal muscleORPHA:447977
ANO5anoctamin 5ORPHA:206549
CAPN3calpain 3ORPHA:267
CNBPCCHC-type zinc finger nucleic acid binding proteinORPHA:606
COL12A1collagen type XII alpha 1 chainORPHA:610
COL25A1collagen type XXV alpha 1 chainORPHA:45358
COL6A1collagen type VI alpha 1 chainORPHA:610
COL6A2collagen type VI alpha 2 chainORPHA:610
COL6A3collagen type VI alpha 3 chainORPHA:610
CRPPACDP-L-ribitol pyrophosphorylase AORPHA:352479
DAG1dystroglycan 1ORPHA:280333
DMDdystrophinORPHA:206546
DMPKDM1 protein kinaseORPHA:589824
DNAJB6DnaJ heat shock protein family (Hsp40) member B6ORPHA:34516
DYSFdysferlinORPHA:268
EMDemerinORPHA:98863
FHL1four and a half LIM domains 1ORPHA:98863
FKRPfukutin related proteinORPHA:34515
FKTNfukutinORPHA:206554
GIPC1GIPC PDZ domain containing family member 1ORPHA:98897
GMPPBGDP-mannose pyrophosphorylase BORPHA:363623
HMGCR3-hydroxy-3-methylglutaryl-CoA reductaseORPHA:653725
HNRNPDLheterogeneous nuclear ribonucleoprotein D likeORPHA:55596
KIF21Akinesin family member 21AORPHA:45358
LAMA2laminin subunit alpha 2ORPHA:565837
LMNAlamin A/CORPHA:98853
LRP12LDL receptor related protein 12ORPHA:98897
MYH7myosin heavy chain 7ORPHA:636965
MYOTmyotilinORPHA:98911
NOTCH2NLCnotch 2 N-terminal like CORPHA:98897
NUTM2B-AS1NUTM2B antisense RNA 1ORPHA:98897
PABPN1poly(A) binding protein nuclear 1ORPHA:270
PHOX2Apaired like homeobox 2AORPHA:45358
PLECplectinORPHA:257
POGLUT1protein O-glucosyltransferase 1ORPHA:480682
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)ORPHA:206564
POMKprotein O-mannose kinaseORPHA:445110
POMT1protein O-mannosyltransferase 1ORPHA:86812
POMT2protein O-mannosyltransferase 2ORPHA:206559
POPDC1popeye domain cAMP effector 1ORPHA:476084
RILPL1Rab interacting lysosomal protein like 1ORPHA:98897
SGCAsarcoglycan alphaORPHA:62
SGCBsarcoglycan betaORPHA:119
SGCDsarcoglycan deltaORPHA:219
SGCGsarcoglycan gammaORPHA:353
SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1ORPHA:269
SYNE1spectrin repeat containing nuclear envelope protein 1ORPHA:98853
SYNE2spectrin repeat containing nuclear envelope protein 2ORPHA:98853
TCAPtitin-capORPHA:34514
TMEM43transmembrane protein 43ORPHA:98853
TNPO3transportin 3ORPHA:55595
TOR1AIP1torsin 1A interacting protein 1ORPHA:424261
TRAPPC11trafficking protein particle complex subunit 11ORPHA:369840
TRIM32tripartite motif containing 32ORPHA:1878
TTNtitinORPHA:178464
TUBA1Atubulin alpha 1aORPHA:45358
TUBB2Btubulin beta 2B class IIbORPHA:45358
TUBB3tubulin beta 3 class IIIORPHA:45358
VMA21vacuolar ATPase assembly factor VMA21ORPHA:25980

近两年的全球研究 109L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-06综述开放获取
    Current Topics of Progressive Cardiac Conduction Disease
    Journal of arrhythmia · DOI · Europe PMC
  • 2026-06综述开放获取
    Fibro-Adipogenic Progenitor Cell Alterations in Skeletal Muscle: Pathological Dysfunction or Adaptive Reprogramming?
    International journal of molecular sciences · DOI · Europe PMC
  • 2026-05开放获取
    Preclinical efficacy of a gene therapy for <i>CHKB</i>-mediated muscular dystrophy
    Molecular therapy. Advances · DOI · Europe PMC
  • 2026-05开放获取
    How should we interpret excessive left ventricular trabeculation? Update on controversies from the cardiac imaging perspective
    Insights into imaging · DOI · Europe PMC
  • 2026-05开放获取
    Awareness and knowledge gaps about pediatric rare disease among anesthesia practitioners in China: a survey-based study
    BMC pediatrics · DOI · Europe PMC
  • 2026-04综述开放获取
    Myotendinous Junction development and repair
    Journal of orthopaedic translation · DOI · Europe PMC
  • 2026-04开放获取
    Ultrasound evaluation of muscle quality in rheumatoid arthritis: a reliability study of the Spanish Ultrasound Muscle Assessment in Rheumatoid Arthritis (SpUMAR) score
    Arthritis research & therapy · DOI · Europe PMC
  • 2026-04开放获取
    Age-related progression of myocardial dysfunction in patients with Duchenne muscular dystrophy assessed by cardiac magnetic resonance tissue tracking: a case-control study
    Cardiovascular diagnosis and therapy · DOI · Europe PMC
  • 2026-04开放获取
    Gmppb-mutant mice exhibit dystroglycanopathy symptoms that are rescued with GSK3β inhibition or AAV-mediated GMPPB gene replacement
    Nature communications · DOI · Europe PMC
  • 2026-04综述开放获取
    Topical Minoxidil and Low-Dose Oral Minoxidil in Onychodystrophy: A Proposed Treatment Algorithm
    Journal of cosmetic dermatology · DOI · Europe PMC
  • 2026-04开放获取
    Development of a DUX4-targeting antibody oligonucleotide conjugate as a therapy for FSHD
    Nucleic acids research · 被引 1 · DOI · Europe PMC
  • 2026-04开放获取
    Generation of a novel Dysferlin microdeletion knock-in mouse model mimicking muscular dystrophy-like pathology
    Scientific reports · DOI · Europe PMC
  • 2026-03系统综述开放获取
    The Economic Burden of Duchenne Muscular Dystrophy: A Systematic Review
    PharmacoEconomics · DOI · Europe PMC
  • 2026-03开放获取
    DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation
    JCI insight · DOI · Europe PMC
  • 2026-03病例报告开放获取
    X-linked Emery-Dreifuss muscular dystrophy caused by a novel <i>FHL1</i> mutation: A case report
    The Journal of international medical research · DOI · Europe PMC
  • 2026-02开放获取
    Omega-3 polyunsaturated fatty acid supplementation for muscle health in community-dwelling older adults at high risk of sarcopenia: protocol for a multicentre, randomised, double-blind, placebo-controlled trial
    BMJ open · DOI · Europe PMC
  • 2026-02开放获取
    Intelligent flexibility in an aging society: lessons from Japan's home-visit nursing system
    Frontiers in public health · DOI · Europe PMC
  • 2026-02病例报告开放获取
    Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and LaminA/C Mutations
    JACC. Case reports · DOI · Europe PMC
  • 2026-02开放获取
    Effects of Nintedanib on Orofacial Fibroblasts and Myoblasts
    Biomolecules · DOI · Europe PMC
  • 2026-01综述开放获取
    Elucidating the genetic landscape of inherited retinal disorders in India
    Human genomics · DOI · Europe PMC

境外已获批用于本病的药物 10L2

欧盟 2 项、美国 8 项。同一药物在两地各批一次的，会分别列出。

「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。

药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。

已获孤儿药资格、尚未获批的在研药物（160 项）

孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。

  • 3-[5-(2-Fluoro-phenyl)-[1,2,4]oxadiazole-3-yl]-benzoic acid (ataluren)欧盟2005-05-27
    Treatment of Duchenne muscular dystrophy
    官方记录
  • Puldysa欧盟2007-03-20
    idebenone
    Treatment of Duchenne muscular dystrophy
    官方记录
  • Exondys欧盟2008-12-03
    RNA, [P-deoxy-P-(dimethylamino)] (2',3'-dideoxy-2',3'-imino-2',3'-seco) (2'a→5') (C-m5U-…
    Treatment of Duchenne muscular dystrophy
    官方记录
  • exon 44 specific phosphorothioate oligonucleotide欧盟2009-02-27
    Treatment of Duchenne muscular dystrophy
    官方记录
  • exon 51 specific phosphorothioate oligonucleotide欧盟2009-02-27
    Treatment of Duchenne muscular dystrophy
    官方记录
  • exon 45 specific phosphorothioate oligonucleotide欧盟2012-04-26
    Treatment of Duchenne muscular dystrophy
    官方记录
  • exon 53 specific phosphorothioate oligonucleotide欧盟2012-04-26
    Treatment of Duchenne muscular dystrophy
    官方记录
  • exon 52 specific phosphorothioate oligonucleotide欧盟2012-12-06
    Treatment of Duchenne muscular dystrophy
    官方记录
  • exon 55 specific phosphorothioate oligonucleotide欧盟2012-12-06
    Treatment of Duchenne muscular dystrophy
    官方记录
  • R,S-O-(3-piperidino-2-hydroxy-1-propyl)-nicotinic acid amidoxime dihyd欧盟2013-04-26
    Treatment of Duchenne muscular dystrophy
    官方记录
  • Asp-Arg-Val-Tyr-Ile-His-Pro (Angiotensin 1-7);talfirastide欧盟2014-02-19
    Treatment of Duchenne muscular dystrophy
    官方记录
  • adeno-associated viral vector serotype 8 containing the human MD1 gene欧盟2014-11-19
    Treatment of Duchenne muscular dystrophy
    官方记录
  • trehalose欧盟2015-05-21
    该药获批用于眼咽肌营养不良——本病种下的一个亚型
    Treatment of oculopharyngeal muscular dystrophy
    官方记录
  • allogeneic human adult stem cells, isolated from skeletal muscle and e欧盟2015-07-28
    Treatment of Duchenne muscular dystrophy
    官方记录
  • recombinant adeno-associated viral vector encoding a human micro-dystr欧盟2016-10-14
    Treatment of Duchenne muscular dystrophy
    官方记录
  • genetically modified adeno-associated viral vector serotype 9 expressi欧盟2017-01-12
    该药获批用于眼咽肌营养不良——本病种下的一个亚型
    Treatment of oculopharyngeal muscular dystrophy
    官方记录
  • tamoxifen citrate欧盟2017-10-12
    Treatment of Duchenne muscular dystrophy
    官方记录
  • metformin;l-citrulline欧盟2018-01-17
    Treatment of Duchenne muscular dystrophy
    官方记录
  • 20-hydroxyecdysone欧盟2018-06-27
    Treatment of Duchenne muscular dystrophy
    官方记录
  • ex-vivo fused autologous human bone marrow-derived mesenchymal stem ce欧盟2018-07-31
    Treatment of Duchenne muscular dystrophy
    官方记录
  • givinostat欧盟2018-07-31
    Treatment of Becker muscular dystrophy
    官方记录
  • synthetic antisense oligonucleotide directed against human dystrophin 欧盟2018-07-31
    Treatment of Duchenne muscular dystrophy
    官方记录
  • tetracosactide欧盟2018-07-31
    Treatment of Duchenne muscular dystrophy
    官方记录
  • Ex vivo fused normal allogeneic human myoblast with another normal all欧盟2018-11-19
    Treatment of Duchenne muscular dystrophy
    官方记录
  • Ex vivo fused normal allogeneic human myoblast with autologous human m欧盟2019-11-19
    Treatment of Duchenne muscular dystrophy
    官方记录
  • Elevidys欧盟2020-02-28
    adeno-associated virus serotype rh74 containing the human micro-dystrophin gene
    Treatment of Duchenne muscular dystrophy
    官方记录
  • viltolarsen欧盟2020-06-04
    Treatment of Duchenne muscular dystrophy
    官方记录
  • ribitol欧盟2020-10-19
    该药获批用于肢带肌营养不良——本病种下的一个亚型
    Treatment of limb-girdle muscular dystrophy
    官方记录
  • 2'-O-(2-methoxyethyl) phosphorothioate antisense oligonucleotide targe欧盟2020-12-09
    Treatment of Duchenne muscular dystrophy
    官方记录
  • adeno-associated virus serotype rh74 containing the human sarcoglycan 欧盟2020-12-09
    该药获批用于肢带肌营养不良——本病种下的一个亚型
    Treatment of limb-girdle muscular dystrophy
    官方记录
  • human laminin-111, recombinant欧盟2021-01-06
    该药获批用于肌营养不良，本病属于其中
    Treatment of congenital muscular dystrophy
    官方记录
  • adeno-associated virus serotype 9 expressing the human fukutin related欧盟2022-01-14
    该药获批用于肢带肌营养不良——本病种下的一个亚型
    Treatment of limb girdle muscular dystrophy
    官方记录
  • adeno-associated virus serotype 8 expressing the human gamma-sarcoglyc欧盟2022-05-16
    该药获批用于肢带肌营养不良——本病种下的一个亚型
    Treatment of limb-girdle muscular dystrophy
    官方记录
  • 3-(1-(2',3'-dimethoxy-[1,1'-biphenyl]-4-yl)-1H-1,2,3-triazol-4-yl)benz欧盟2023-01-13
    Treatment of Duchenne muscular dystrophy
    官方记录
  • adeno-associated viral vector serotype 9 expressing fukutin-related pr欧盟2023-02-15
    该药获批用于肢带肌营养不良——本病种下的一个亚型
    Treatment of limb girdle muscular dystrophy
    官方记录
  • patidistrogene bexoparvovec欧盟2023-02-15
    该药获批用于肢带肌营养不良——本病种下的一个亚型
    Treatment of limb girdle muscular dystrophy
    官方记录
  • adeno-associated virus vector serotype 9/rh74 containing the human CAP欧盟2023-10-13
    该药获批用于肢带肌营养不良——本病种下的一个亚型
    Treatment of limb-girdle muscular dystrophy
    官方记录
  • Humanised IgG1 monoclonal antibody against TfR1 conjugated to exon 44 欧盟2023-10-13
    Treatment of Duchenne muscular dystrophy
    官方记录
  • brogidirsen欧盟2023-12-13
    Treatment of Duchenne muscular dystrophy
    官方记录
  • sevasemten欧盟2024-03-21
    Treatment of Becker muscular dystrophy
    官方记录

另有 120 项未列出。

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 24L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 8

  • 招募中NCT04369209
    A Registered Cohort Study on FSHD1
    观察性 · 2001/01Ning Wang, MD., PhD.
    中国研究中心 1 个：Fuzhou
  • 招募中NCT04012671
    A Registered Cohort Study on Duchenne Muscular Dystrophy
    观察性 · 2019/07/01Ning Wang, MD., PhD.
    中国研究中心 1 个：Fuzhou
  • 仅邀请入组NCT04989751
    A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China
    观察性 · 2021/07/07Huashan Hospital
    中国研究中心 1 个：Shanghai
  • 招募中NCT06641895
    Evaluation of the Safety and Efficacy of BBM-D101 to Treat Patients with Duchenne Muscular Dystrophy
    早期 I 期 · 干预性 · 2024/07/25Shanghai Jiao Tong University School of Medicine
    中国研究中心 1 个：Shanghai
  • 招募中NCT06900049
    Evaluation of the Safety, Tolerability, and Efficacy of LE051 in Patients With Duchenne Muscular Dystrophy
    早期 I 期 · 干预性 · 2024/10/24Shanghai Jiao Tong University School of Medicine
    中国研究中心 1 个：Shanghai
  • 招募中NCT07058662
    A Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of BBM-D101 in the Treatment of Duchenne Muscular Dystrophy.
    I 期、II 期 · 干预性 · 2025/07/31Belief BioMed (Beijing) Co., Ltd
    中国研究中心 1 个：Beijing
  • 招募中NCT07188012
    Safety and Dystrophin Expression of SPOT-03 in Duchenne Muscular Dystrophy (DMD) Patients
    早期 I 期 · 干预性 · 2025/08/06Shanghai Siponuoyin Biotechnology Co Ltd
    中国研究中心 1 个：Shanghai
  • 尚未开始招募NCT07511920
    A Multicenter Cohort Study of Duchenne and Becker Muscular Dystrophy in Western Chinese Children
    观察性 · 2026/04/20West China Second University Hospital
    中国研究中心 1 个：Chengdu
其他状态的试验（16 项）
  • 状态未知NCT01610440
    Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy
    I 期、II 期 · 干预性 · 2011/10Shenzhen Beike Bio-Technology Co., Ltd.
    中国研究中心 1 个：Kunming
  • 已完成NCT02285062
    Efficacy and Safety Study of Lenalidomide Plus R-CHOP Chemotherapy Versus Placebo Plus R-CHOP Chemotherapy in Untreated ABC Type Diffuse Large B-cell Lymphoma
    III 期 · 干预性 · 2015/02/17Celgene
    中国研究中心 17 个：Beijing、Changchun、Chengdu、Chongqing、Fuzhou、Guangzhou, Guangdong 等 14 地
  • 状态未知NCT02614820
    The Safety, Efficacy and Tolerability of Remote Ischemic Preconditioning as a Therapy to DMD
    不适用 · 干预性 · 2015/11General Hospital of Chinese Armed Police Forces
    中国研究中心 1 个：Beijing
  • 已完成NCT03179631
    Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
    III 期 · 干预性 · 2017/07/06PTC Therapeutics
    中国研究中心 5 个：Beijing、Fuzhou、Hunan、Shanghai、Shenzhen
  • 状态未知NCT03779646
    Bisoprolol in DMD Early Cardiomyopathy
    II 期、III 期 · 干预性 · 2019/01/16Peking Union Medical College Hospital
    中国研究中心 1 个：Beijing
  • 已完成NCT03760029
    A Natural History Study In Chinese Male Patients With Duchenne Muscular Dystrophy
    不适用 · 干预性 · 2019/07/24Pfizer
    中国研究中心 8 个：Beijing、Chongqing、Fuzhou、Shanghai
  • 已完成NCT04060199
    Study to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With DMD (RACER53)
    III 期 · 干预性 · 2020/04/14NS Pharma, Inc.
    中国研究中心 5 个：Beijing、Changsha、Shanghai、Shenzhen
  • 已终止NCT04371666
    Phase 3 Trial of Pamrevlumab or Placebo With Systemic Corticosteroids in Participants With Non-ambulatory Duchenne Muscular Dystrophy (DMD)
    III 期 · 干预性 · 2020/08/10Kyntra Bio
    中国研究中心 3 个：Beijing、Chengdu、Chongqing
  • 已终止NCT04632940
    Phase 3 Trial of Pamrevlumab or Placebo in Combination With Systemic Corticosteroids in Participants With Ambulatory DMD
    III 期 · 干预性 · 2021/03/03Kyntra Bio
    中国研究中心 5 个：Beijing、Changsha、Chengdu、Chongqing、Guangzhou
  • 状态未知NCT04768062
    Study to Assess the Safety and Efficacy of Viltolarsen in Ambulant Boys With DMD (RACER53-X)
    III 期 · 干预性 · 2021/04/13NS Pharma, Inc.
    中国研究中心 4 个：Beijing、Changsha、Shanghai、Shenzhen
  • 已完成NCT04956289
    Study to Assess the Safety, Tolerability, and Efficacy of Viltolarsen in Ambulant and Non-Ambulant Boys With DMD (Galactic53)
    II 期 · 干预性 · 2021/07/01NS Pharma, Inc.
    中国研究中心 2 个：Beijing、Changsha
  • 进行中·不再招募NCT06114056
    A Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of Single Intravenous Infusion of JWK007 in Patients With Duchenne Muscular Dystrophy (DMD)
    I 期 · 干预性 · 2024/01/31West China Hospital
    中国研究中心 1 个：Chengdu
  • 状态未知NCT06517498
    Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy
    观察性 · 2024/03/01Xi'an Jiaotong University
    中国研究中心 1 个：Xi'an
  • 进行中·不再招募NCT06392724
    A Study to Evaluate the Safety and Tolerability of GEN6050X in Duchenne Muscular Dystrophy.
    早期 I 期 · 干预性 · 2024/07/05Peking Union Medical College Hospital
    中国研究中心 1 个：Beijing
  • 进行中·不再招募NCT06594094
    An Open-label, Multidose Dose-escalation Study to Understand the Safety of CRISPR Gene-editing Therapy and Its Long-Lasting Effects in DMD Patients (MUSCLE)
    早期 I 期 · 干预性 · 2024/11/06HuidaGene Therapeutics Co., Ltd.
    中国研究中心 1 个：Shanghai
  • 进行中·不再招募NCT07282652
    A Study to Evaluate the Safety and Tolerability of RAG-18 in Pediatric Patients With Duchenne Muscular Dystrophy
    早期 I 期 · 干预性 · 2025/12/12Peking Union Medical College Hospital
    中国研究中心 1 个：Beijing

中国境外的在招试验 144L2

这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。

美国67意大利21英国19法国17比利时17西班牙15荷兰13加拿大13德国9澳大利亚7土耳其5韩国5以色列4丹麦3另有 20 个国家/地区

CT.gov 报告命中 144 项，此处取回并展示最近的 15 项。

  • 尚未开始招募NCT05470478
    iBCI Optimization for Veterans With Paralysis
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    观察性 · 2026/09/15Institut de Myologie, France
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    II 期 · 干预性 · 2026/09/14Keros Therapeutics, Inc.
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    Glucagon-Like Peptide-1 Receptor Agonists to Attenuate Metabolic Risk in Individuals With Duchenne Muscular Dystrophy
    I 期、II 期 · 干预性 · 2026/09/01Vanderbilt University Medical Center
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    Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies
    观察性 · 2026/08/01IRCCS San Raffaele
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    Long-Term Extension Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon Skipping to Evaluate the Safety and Efficacy of Endosomal Escape Vehicle Phosphorodiamidate Morpholino Oligomer Platform Products (ELEVATE-LTE)
    II 期 · 干预性 · 2026/08Entrada Therapeutics, Inc.
    比利时、意大利、荷兰、西班牙、英国
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    III 期 · 干预性 · 2026/08Avidity Biosciences, Inc.
    比利时、法国、德国、意大利、西班牙、英国
  • 招募中NCT07521930
    Interfacing With NeuroTechnology to Expand Neural Throughput (INTENT)
    不适用 · 干预性 · 2026/08Johns Hopkins University
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  • 招募中NCT07700225
    Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Extension
    观察性 · 2026/08Virginia Commonwealth University
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  • 尚未开始招募NCT07542314
    Study to Evaluate the Safety and Effectiveness of ELEVIDYS in Participants With Duchenne Muscular Dystrophy Treated in a Post-Marketing Setting
    IV 期 · 干预性 · 2026/07/31Sarepta Therapeutics, Inc.
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    Digital Monitoring of Upper Limb Function in Non-Ambulant DMD
    不适用 · 干预性 · 2026/07/30Centre Hospitalier Universitaire de Liege
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    Phase 2 Study Evaluating Apitegromab for the Treatment of FSHD
    II 期 · 干预性 · 2026/07/30Scholar Rock, Inc.
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  • 招募中NCT07766980
    Evaluating VM100 Nutritional Supplement for Improving Quality of Life in Duchenne Muscular Dystrophy Patients
    不适用 · 干预性 · 2026/07/27University of Florida
    美国
  • 招募中NCT07172971
    Sodium/Glucose Cotransporter-2 Inhibitors (SGLT2i) Therapy in Duchenne Cardiomyopathy
    I 期 · 干预性 · 2026/07/01Vanderbilt University Medical Center
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外部标识与链接

OrphanetMONDO:0016106MONDO:16106ClinicalTrials.gov 检索

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本页数据来源

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  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）