神经元蜡样质脂褐质沉积病
Neuronal ceroid lipofuscinosis
定义 英文原文（暂无中文）
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
别名
NCL
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000（Italy）
相关基因 4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 |
|---|---|---|
| ATP13A2 | ATPase cation transporting 13A2 | ORPHA:314632 |
| CLN8 | CLN8 transmembrane ER and ERGIC protein | ORPHA:1947 |
| CTSF | cathepsin F | ORPHA:352709 |
| KCTD7 | potassium channel tetramerization domain containing 7 | ORPHA:263516 |
近两年的全球研究 550L2
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开放获取Genetic Etiologies of Dystonia with Anarthria/Aphonia
- 2026-09综述开放获取Miglustat in Neuronopathic Lysosomal Storage Disorders: Biological Rationale, Clinical Evidence, and Limits of Repurposing
- 2026-09Defective ATP13A2-ITCH-ALIX signaling impairs intraluminal vesicle biogenesis and increases neuronal vulnerability
- 2026-09开放获取Conversion of a ventricular rickham reservoir to a subcutaneous chest port for repeated intraventricular enzyme replacement therapy: technical note and surgical considerations
- 2026-09综述开放获取Astrocytes in Neurodegeneration: Spatial States, Crosstalk, and Emerging Therapies
- 2026-09开放获取Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease
- 2026-09开放获取Phenotypic characterization of presumptive propriospinal myoclonus in young dogs (2013-2025)
- 2026-09综述开放获取Emerging roles of α/β hydrolase domain (ABHD) proteins in S-palmitoylation modification: molecular mechanisms, structural features, and pathological implications
- 2026-09病例报告开放获取A previously unreported ELOVL4 frameshift variant in a patient with early severe cognitive decline, parkinsonism, and cerebellar ataxia: A case report
- 2026-09开放获取The Burden of Epilepsy: The Contribution of Seizures (AES 2025 Presidential Symposium)
- 2026-09综述开放获取Insights Into Aggregation-Delayed Phenotype of Dictyostelium discoideum
- 2026-09开放获取Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase
- 2026-09综述A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders
- 2026-09Patient Perspective-Where Does the Value for Money of a Treatment Really Lie?
- 2026-09开放获取GRN rs5848 variant associates with TDP-43 pathology and cancer in opposite directions
- 2026-08A 3D human retina model reveals a non-cell-autonomous and non-neuronal mechanism of photoreceptor loss in a lysosomal storage disorder
- 2026-08综述K16ApoE-mediated delivery across the blood-brain barrier: mechanisms, applications, and translational challenges
- 2026-08开放获取Investigation of Serum Neurofilament Light Chain as a Surrogate for Cerebrospinal Fluid Neurofilament Light Chain in Canine Cognitive Dysfunction Syndrome
- 2026-08综述开放获取Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease
- 2026-08综述开放获取Nanotechnology in Pediatric Neurology: Applications and Innovations
境外已获批用于本病的药物 2L2
欧盟 1 项、美国 1 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。
尚未获批的在研药物（17 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。
- Gemfibrozil欧盟2018-03-21Treatment of neuronal ceroid lipofuscinosis官方记录
- adeno-associated viral vector serotype 9 containing the human CLN1 gen欧盟2018-05-25Treatment of neuronal ceroid lipofuscinosis官方记录
- recombinant self-complementary adeno-associated viral vector serotype 欧盟2019-08-21Treatment of neuronal ceroid lipofuscinosis官方记录
- miglustat欧盟2020-10-19Treatment of neuronal ceroid lipofuscinosis官方记录
- adeno-associated virus serotype 9 expressing human CLN5欧盟2021-06-21Treatment of neuronal ceroid lipofuscinosis官方记录
- autologous CD34+ hematopoietic stem and progenitor cells genetically m欧盟2021-07-19Treatment of neuronal ceroid lipofuscinosis官方记录
- Adeno-associated viral vector serotype rh.10 encoding the CLN2 gene欧盟2022-10-11Treatment of neuronal ceroid lipofuscinosis官方记录
- tamoxifen citrate欧盟Treatment of neuronal ceroid lipofuscinosis官方记录
- N-t-butylhydroxylamine美国2015-05-12Treatment of infantile neuronal ceroid lipofuscinosis.官方记录
- adeno-associated viral serotype 2 vector under the regulatory control 美国2016-03-16Treatment of CLN2 disease (neuronal ceroid lipofuscinosis (NCL)) caused by TPP1 deficiency.官方记录
- scAAV9.MeCP2.hCLN3, a self-complementary AAV serotype 9 expressing hum美国2017-06-27Treatment of neuronal ceroid lipofuscinosis Type 3 (CLN3)官方记录
- a self-complementary adeno-associated virus serotype 9 expressing huma美国2018-02-07Treatment of neuronal ceroid lipofuscinosis type 1 (CLN1)官方记录
- non-replicating, recombinant adeno-associated virus (AAV) serotype 9 (美国2018-10-25Treatment of neuronal ceroid lipofuscinosis type 2 (CLN2) disease.官方记录
- Adeno-associated virus serotype 9 vector with engineered transgene enc美国2020-06-03Treatment of neuronal ceroid lipofuscinosis type 5官方记录
- Adeno-associated viral vector encoding the human ceroid lipofuscinosis美国2021-07-12Treatment of neuronal ceroid lipofuscinosis type 2 (CLN2) disease, Batten disease官方记录
- adeno-associated viral vector serotype 9 encoding a codon-optimized hu美国2024-10-29treatment of neuronal ceroid lipofuscinosis type 7官方记录
- AAV composed of an engineered viral capsid variant and a single-strand美国2025-10-16treatment of late infantile neuronal ceroid lipofuscinosis (CLN2) 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。
中国境外的在招试验 13L2
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9德国2约旦1意大利1英国1澳大利亚1
共 13 项。
- 尚未开始招募NCT07582484Gene Therapy Trial for CLN6 Batten Disease美国
- 招募中NCT07178288Assessment of Pressure Pain Threshold (PPT) and Conditioned Pain Modulation (CPM) After Effect in Patients With and Without Tennis Elbow (TE)约旦
- 招募中NCT06844877Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies意大利
- 招募中NCT05791864A First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Gene Therapy With TTX-381 for the Ocular Manifestations Associated With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease德国、英国
- 招募中NCT06203106NYSCF Scientific Discovery Biobank美国
- 招募中NCT05007990Caregiving Networks Across Disease Context and the Life Course美国
- 招募中NCT04613089Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database德国
- 招募中NCT03307304Investigations of Juvenile Neuronal Ceroid Lipofuscinosis美国
- 招募中NCT02254863UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells美国
- 招募中NCT02435940Inherited Retinal Degenerative Disease Registry美国
- 招募中NCT03333200Longitudinal Study of Neurodegenerative Disorders美国
- 招募中NCT01793168Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford澳大利亚、美国
- 招募中NCT01873924Clinical and Neuropsychological Investigations in Batten Disease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）