肯尼迪病
Kennedy disease
定义 英文原文（暂无中文）
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.
别名
X连锁脊髓延髓肌萎缩
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 成年期
- 患病率
- <1 / 1 000 000（Italy）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| AR | androgen receptor | Disease-causing germline mutation(s) in |
临床表型 13
极常见 99–80%10
- 运动异常 HP:0100022
- 生育能力下降 HP:0000144
- 构音障碍 HP:0001260
- 发音困难 HP:0001618
- 勃起功能障碍 HP:0100639
- 步态异常 HP:0001288
- 男子女性乳房发育 HP:0000771
- 腱反射减弱 HP:0001265
- 肌张力减退 HP:0001252
- 骨骼肌萎缩 HP:0003202
偶见 29–5%3
- 脂代谢异常 HP:0003119
- 睾丸萎缩 HP:0000029
- 2型糖尿病 HP:0005978
近两年的全球研究 71L2
2024/10 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。
- 2026-09综述开放获取The Versatile Roles of Exosomes in Neurodegenerative Disorders: From Pathological Mechanism and Diagnostic Biomarkers to Therapeutic Application
- 2026-09综述开放获取Mitochondrial Modulation as a Therapeutic Entry Point in Neurodegeneration
- 2026-09病例报告开放获取Critical Kennedy's disease with Guillain-Barré syndrome and respiratory failure: A case report
- 2026-08综述开放获取The Role of Neurofilaments in Diagnosis and Monitoring of Amyotrophic Lateral Sclerosis
- 2026-07开放获取Myofibrillar Myopathy with Pyramidal Signs Mimicking Amyotrophic Lateral Sclerosis
- 2026-07综述开放获取Androgen signaling is dispensable for fetal testis formation: decoupling testis organogenesis from fetal masculinization programming
- 2026-06综述开放获取Extracellular vesicles and their cargo molecules for peripheral nerve injuries and neuropathies: The composition, properties, and impact
- 2026-06开放获取Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years
- 2026-06开放获取Tongue volume in spinal and bulbar muscular atrophy (SBMA): an AI-assisted automatic MRI analysis
- 2026-05综述开放获取Uncovering the Secret of Mesenchymal Stromal Cells Secretome: From Extracellular Vesicle Cargo to Neuroprotection
- 2026-05开放获取Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation
- 2026-05系统综述开放获取Intranasal administration of stem cells and their derivatives for neurological and respiratory disorders: a systematic review of human clinical trials
- 2026-05病例报告开放获取Progressive Proximal Muscle Weakness Due to a 51 CAG Repeat Expansion in Exon 1 of the Androgen Receptor Gene: A Case Report of Kennedy Disease
- 2026-04综述开放获取X chromosome inactivation, X-linked disorders, and cancer
- 2026-04开放获取Reappraisal of the Diagnostic Significance of Transcranial Magnetic Stimulation and Triple Stimulation in Amyotrophic Lateral Sclerosis
- 2026-03综述开放获取Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review
- 2026-02综述开放获取Extracellular Vesicles in Tauopathies: Mechanisms and Applications
- 2026-02病例报告[Perioperative management of a patient with Kennedy disease undergoing knee replacement: A case report]
- 2026-01荟萃分析系统综述开放获取Prevalence of vestibulo-ocular reflex dysfunction in people with neurological disorders: a systematic review and meta-analysis
- 2026-01开放获取International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy
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。
尚未获批的在研药物（2 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。
- (1E,6E)-1,7-bis(3,4-dimethoxyphenyl)-4-cyclobutylmethyl-1,6-heptadiene欧盟2016-04-28Treatment of X-linked spinal and bulbar muscular atrophy (Kennedy's disease)官方记录
- 3-(5-(2-Hydroxy-2-methylpropoxy)-6-methylpyrazin-2-yl)-1H-indole-7-car欧盟2024-11-10Treatment of X-linked spinal and bulbar muscular atrophy (Kennedy's disease)官方记录
数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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 25L2
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NCT06348264Adjuvant Rezvilutamide in Combination With Androgen Deprivation Therapy in Androgen Receptor-positive, High-risk Salivary Duct Carcinoma中国研究中心 2 个：Beijing
- 招募中NCT06854250Prostate Cryoablation Combined With Metronomic Cyclophosphamide for Metastatic Prostate Cancer中国研究中心 1 个：Guangzhou
- 尚未开始招募NCT06838520Effect of ADT and ARPI on Bone Loss of Patients with Prostate Cancer中国研究中心 4 个：Changzhou、Nanjing、Suzhou、Yangzhou
- 招募中NCT06855277Study Comparing AAA817+ARPI Versus Standard of Care in Adult Participants With PSMA-positive mCRPC中国研究中心 10 个：Beijing、Chengdu、Fuzhou、Guangzhou、Hangzhou、Nanjing 等 10 地
- 招募中NCT07190300TulmiSTAR-02: A Phase I/II Open-label Study of Tulmimetostat in Combination With Darolutamide vs. Darolutamide, and Tulmimetostat With Abiraterone in Patients With Metastatic Hormone-sensitive Prostate Cancer (mHSPC)中国研究中心 1 个：Guangzhou
- 招募中NCT07336446A Trial to Learn How Safe AZD9750 is and How Well it Works in People With Metastatic Prostate Cancer When Given With or Without Other Anticancer Drugs中国研究中心 1 个：Chengdu
- 招募中NCT07311694A Phase III Study Comparing HRS-4357 With Novel Androgen Receptor Pathway Inhibitors in Patients With Progressive, PSMA-Positive Metastatic Castration-Resistant Prostate Cancer中国研究中心 1 个：Shanghai
- 尚未开始招募NCT07795177A Prospective Study Based on Spatial Multi-omics to Predict the Efficacy of ADT Combined With Second-generation Novel Hormonal Agents in Metastatic Hormone-sensitive Prostate Cancer.中国研究中心 1 个：Hefei
其他状态的试验（17 项）
- 已完成NCT02294461An Asian Study to Evaluate Efficacy and Safety of Oral Enzalutamide in Progressive Metastatic Prostate Cancer Participants中国研究中心 22 个：Beijing、Changsha、Hangzhou、Nanjing、Shanghai、Suzhou 等 10 地
- 已终止NCT02348281Bicalutamide as A Treatment in AR-positive Metastatic Triple-Negative Breast Cancer (mTNBC) Patients中国研究中心 1 个：Shanghai
- 状态未知NCT02910050Bicalutamide Plus Aromatase Inhibitors in ER(+)/AR(+)/HER2(-) Metastatic Breast Cancer中国研究中心 1 个：Guangzhou
- 已终止NCT03055312Bicalutamide in Treatment of Androgen Receptor (AR) Positive Metastatic Triple Negative Breast Cancer中国研究中心 2 个：Guangzhou
- 状态未知NCT03520478A Study of SHR3680 in Treating Patients With Hormone Sensitive Prostate Cancer中国研究中心 49 个：Baoding、Beijing、Changchun、Changsha、Chengdu、Chongqing 等 26 地
- 进行中·不再招募NCT03523442A Study of Androgen Receptor (AR) Antagonist Apalutamide in Chinese Participants With Metastatic Castration-Resistant Prostate Cancer中国研究中心 4 个：Beijing、Nanjing、Shanghai
- 进行中·不再招募NCT04720157An International Prospective Open-label, Randomized, Phase III Study Comparing 177Lu-PSMA-617 in Combination With Standard of Care (SoC), Versus SoC Alone, in Adult Male Patients With Metastatic Hormone Sensitive Prostate Cancer (mHSPC)中国研究中心 7 个：Beijing、Chengdu、Guangzhou、Nanjing、Shanghai、Tianjin 等 7 地
- 已完成NCT05674045A Phase 2, Randomized, Placebo-controlled, Double-blind Study of EG017 in Female Patients With Stress Urinary Incontinence中国研究中心 1 个：Beijing
- 进行中·不再招募NCT05335876Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials中国研究中心 4 个：Beijing、Chengdu、Chongqing、Guangzhou
- 已终止NCT05673109A Study of AC176 for the Treatment of Metastatic Castration Resistant Prostate Cancer中国研究中心 5 个：Beijing、Guangzhou、Hunan、Nanchang、Shanghai
- 状态未知NCT05673694To Evaluate a Phase Ia/Ib Clinical Study of EG017 in Patients With Advanced Breast Cancer.中国研究中心 5 个：Beijing、Changsha、Wuhan、Zhengzhou
- 进行中·不再招募NCT05658003A Study Evaluating [177Lu]Lu-PSMA-617 vs. a Change of Androgen Receptor-directed Therapy in Taxane Treatment Naive Chinese Male Patients With Progressive Metastatic Castrate Resistant Prostate Cancer中国研究中心 10 个：Beijing、Chengdu、Guangzhou、Hangzhou、Nanjing、Shanghai 等 10 地
- 已完成NCT05670106A Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Dosimetry of [177Lu]Lu-PSMA-617 in Chinese Adult Male Patients With Progressive PSMA-Positive mCRPC中国研究中心 9 个：Beijing、Chengdu、Guangzhou、Nanjing、Shanghai、Tianjin 等 9 地
- 状态未知NCT05953168T-DXd in the First-Line Treatment of Locally Advanced or Metastatic TNBC-LAR HER2-low Patients中国研究中心 1 个：Shanghai
- 状态未知NCT05954442Everolimus With Investigator's Choice of Chemotherapy in Advanced Triple-Negative Breast Cancer (TNBC) With Luminal Androgen Receptor (LAR) Subtype中国研究中心 1 个：Shanghai
- 进行中·不再招募NCT06764485A Study to Compare the Efficacy and Safety of BMS-986365 Versus the Investigator's Choice of Therapy in Participants With Metastatic Castration-resistant Prostate Cancer中国研究中心 20 个：Beijing、Changzhou、Chengdu、Fuzhou、Guangzhou、Hangzhou 等 16 地
- 进行中·不再招募NCT07047118A Study of JSB462 (Luxdegalutamide) Plus Lutetium (177Lu) Vipivotide Tetraxetan in Patients With Metastatic Castration Resistant Prostate Cancer (mCRPC)中国研究中心 1 个：Beijing
中国境外的在招试验 61L2
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32澳大利亚8加拿大6英国6意大利5西班牙5日本3比利时3法国2德国2土耳其2瑞士2荷兰2韩国1另有 10 个国家/地区
CT.gov 报告命中 61 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07760844An Open-Label, Randomized Phase III Study of Trastuzumab Rezetecan With or Without Everolimus in First to Third Line LAR Subtype TNBC
- 尚未开始招募NCT07711002Saruparib in Combination With Physician's Choice of ARPI in Patients With mHSPC Previously Treated With Docetaxel or 177Lu-PSMA Therapy Without Disease Progression and PSA ≥ 0.2 ng/mL (EvoPAR-PR05)加拿大
- 招募中NCT07226713Pacritinib in Participants With Metastatic Castrate-Resistant Prostate Cancer That Progressed on or After Prior Treatment With Androgen Receptor Signaling Inhibitors美国
- 招募中NCT07751133Evaluating Hormone Therapy to Achieve Optimal Doses in Metastatic Prostate Cancer英国
- 招募中NCT07650240Study of PSMA-targeted Therapy and Androgen Receptor Suppression in Low-volume Metastatic ProstatE Cancer: SPARKLE Trial美国
- 招募中NCT07723248A Study to Learn About the Investigational Drug Rinzimetostat (ORIC-944) in Patients With mCRPC Who Were Previously Treated With Abiraterone Acetate (Himalayas-1)美国
- 招募中NCT07223385High Cardiovascular Risk Intervention With Cardio-Oncology Consultation for Prostate Cancer Following Androgen Receptor Pathway Inhibitor (ARPI) Therapy (Heart-Safe)美国
- 招募中NCT07745361Study of Oral MRT-2359 With Apalutamide in Prostate Cancer美国
- 尚未开始招募NCT07592910A Study of Mevrometostat With Enzalutamide in People With Prostate Cancer Who Have Previously Received Androgen Receptor Pathway Inhibitor Therapy
- 招募中NCT07677267A Study of Real-World Characteristics, Treatment Patterns, and Outcomes Among mCRPC Patients Previously Treated With an Androgen Receptor Pathway Inhibitor, Taxane-Based Chemotherapy, and Lutetium-177 Vipivotide Tetraxetan美国
- 尚未开始招募NCT07596277Exploring Lived Experiences of Families of Children With Spinal Muscular Atrophy(SMA) Type 1 Regarding Feeding and Communication英国
- 尚未开始招募NCT06836726Clinical Trial to Test Efficacy of Targeting Hypoxia Combined With ARSI After First-line ARSI Therapy for Castrate Resistant Prostate Cancer加拿大
- 招募中NCT07570979A Study to Investigate the Safety and Tolerability of Oral INR731 Single Agent or in Combination With Androgen Receptor Pathway Inhibitor (ARPI) in Patients With Metastatic Prostate Cancer澳大利亚、加拿大、日本、韩国、美国
- 招募中NCT06844383A Study of Talazoparib With or Without Enzalutamide in People With Prostate Cancer Who Have Previously Received Abiraterone Acetate or Darolutamide美国
- 招募中NCT06705686Novel ACK1 Inhibitor (R)-9b in Patients With Prostate Cancer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）