强直性营养不良
Myotonic dystrophy
基本事实
- 患病率
- >1 / 1000（Specific population）
相关基因 2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 |
|---|---|---|
| CNBP | CCHC-type zinc finger nucleic acid binding protein | ORPHA:606 |
| DMPK | DM1 protein kinase | ORPHA:589824 |
近两年的全球研究 1,460L2
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。
- 2026-08Total energy expenditure assessed by doubly labeled water in patients with myotonic dystrophy type 1: Associations with body composition and functional status
- 2026-08A bitter melon natural compound ameliorates the myotonic dystrophy type 1 skeletal muscle phenotype in a sex-specific manner
- 2026-083D Radiomic Texture Analysis of Quantitative Muscle MRI Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot-Marie-Tooth Neuropathy Type 1A: A Proof-of-Concept Study
- 2026-07Energy expenditure and the accuracy of predictive equations in myotonic dystrophy type 1
- 2026-07Gastrointestinal manifestations are common and highly burdensome in patients with adult-onset myotonic dystrophy type 1
- 2026-07Natural History of Adult-Onset Myotonic Dystrophy Type 1: Longitudinal Changes in Radiologic, Clinical, and Patient-Reported Outcomes
- 2026-07Bis(monoacylglycero)phosphate (BMP) as a circulating biomarker of lysosomal dysfunction in GNE myopathy
- 2026-07Differential expression of microRNAs and other small RNAs in the serum of patients with myotonic dystrophy type 1 and facioscapulohumeral muscular dystrophy type 1
- 2026-07HSP90 Inhibition Partially Rescues Alternative Splicing Dysregulation in Cell Models of Myotonic Dystrophy
- 2026-07Fatty-acid-based antimiR-23b delivery in the DMSXL model: A potential therapeutic strategy for brain dysfunction in myotonic dystrophy type 1
- 2026-07Genotype-phenotype relationship in a cohort of 131 Chinese patients with myotonic dystrophy type 1
- 2026-07Anesthetic Consideration of Patient With Myotonic Dystrophy Type 1: A Case Report and Review of Literature
- 2026-07Cardiac pacing in myotonic dystrophy type 1: a retrospective cohort study on indications, diagnostic modalities, and long-term outcomes
- 2026-07综述Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies
- 2026-07Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy
- 2026-07Tissue-specific CTG•CAG expansion rate and disease severity are modified by DNA repair genes expression levels in myotonic dystrophy type 1 patients
- 2026-07Atypical Phenotype of Myotonic Dystrophy Type 1 with Variant Repeats at the Age of Diagnosis
- 2026-07Myotonic dystrophy family registry. The patient experience
- 2026-07Recognizing repeat expansion disorders in clinical practice
- 2026-07开放获取Malignant Hyperthermia in Sweden: Clinical Presentations and Genetic Findings
境外已获批用于本病的药物 0L2
欧盟与美国均未检索到已获批用于本病的药物。
已获孤儿药资格、尚未获批的在研药物（10 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。
- mecasermin美国2007-12-03treatment of myotonic dystrophy官方记录
- Tideglusib美国2017-06-19Treatment of myotonic dystrophy type 1 (DM1)官方记录
- an antibody oligonucleotide conjugate (AOC), comprised of a human tran美国2021-07-21Treatment of Myotonic Dystrophy Type 1 (DM1)官方记录
- a lyophilized modified oligonucleotide of 16 nucleotides conjugated to美国2022-05-10Treatment of myotonic dystrophy type 1 (DM1)官方记录
- a synthetic peptide-oligonucleotide conjugate in which a phosphorodiam美国2023-08-01Treatment of Myotonic Dystrophy type 1 (also known as Steinert disease)官方记录
- Human transferrin 1 receptor (TfR1) targeting humanized IgG 1 kappa fr美国2023-09-19Treatment of Myotonic Dystrophy Type I官方记录
- recombinant fusion protein (biologic) made by linking human serum albu美国2023-11-27该药获批用于Steinert强直性肌营养不良——本病种下的一个亚型Treatment of myotonic dystrophy type 1官方记录
- a nonreplicating adeno-associated virus, serotype SAN011 that expresse美国2024-07-10该药获批用于Steinert强直性肌营养不良——本病种下的一个亚型treatment of myotonic dystrophy type 1官方记录
- a phosphorodiamidate morpholino oligomer consisting of 7 repetitive cy美国2024-09-20该药获批用于Steinert强直性肌营养不良——本病种下的一个亚型Treatment of Myotonic Dystrophy Type 1官方记录
- an antibody-siRNA conjugate, comprised of a humanized anti-TfR1 IgG1 m美国2025-10-17treatment of myotonic dystrophy type 1 (DM1)官方记录
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 2L2
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 2
- 仅邀请入组NCT06979024A Registered Observational Cohort Study of Myotonic Dystrophy Type 1中国研究中心 1 个：Fuzhou
- 仅邀请入组NCT06101940Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)中国研究中心 22 个：Beijing、Changchun、Chengdu、Chifeng、Chongqing、Fuzhou 等 18 地
中国境外的在招试验 47L2
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24法国12意大利11英国11加拿大10比利时7德国7西班牙7荷兰5澳大利亚5新西兰5丹麦2埃及2日本1另有 12 个国家/地区
共 25 项。
- 尚未开始招募NCT07075965Calcium Channel Blocker in Myotonic Dystrophy Type 1
- 尚未开始招募NCT07732439An Ambispective Natural History Study in Myotonic Dystrophy Patients Linking Retrospective Data Captured From the DM-Scope Registry With a Prospective 24-month Follow-up Period法国
- 招募中NCT07587242A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping比利时、法国、德国、意大利、西班牙、英国
- 招募中NCT07700225Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Extension美国
- 招募中NCT07580365VirtualPark_Pediatric意大利
- 招募中NCT07608432Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO)美国
- 招募中NCT07486934Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1比利时、丹麦、法国、德国、意大利、日本、荷兰、西班牙 等 10 国
- 招募中NCT07321977Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers法国
- 招募中NCT07415837Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies法国
- 招募中NCT07220603An Open-Label Extension Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1 (FREEDOM-OLE)加拿大
- 招募中NCT06844214A Study to Investigate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants Aged 10 to 55 Years of Age With Non-congenital Myotonic Dystrophy Type 1阿根廷、澳大利亚、加拿大、以色列、英国、美国
- 招募中NCT06747884Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension巴西、美国
- 招募中NCT07385443The Spanish National Registry for Myotonic Dystrophy Type 1西班牙
- 招募中NCT07362875Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy美国
- 招募中NCT07502989Muscle Health Measurements Using Electrical Impedance Myography美国
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 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）