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 520L2
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。
- 2026-07Sex-dependent clinical divergence in adult-onset CLN6-Batten disease: a case study of a Chinese brother-sister pair
- 2026-07A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8
- 2026-07Morphometric Brain Changes in a Merino Sheep (<i>Ovis aries</i>) CLN6 Neuronal Ceroid Lipofuscinosis Model
- 2026-07Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis
- 2026-07病例报告Gaze-evoked nystagmus in a dog with neuronal ceroid lipofuscinosis
- 2026-07综述开放获取The expanding role of protease therapeutics (2012-2026): from replacement therapies to immune system modulation and beyond
- 2026-06综述Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls
- 2026-06A CLN8 biallelic missense variant causes epilepsy with severe treatment-resistant psychosis
- 2026-06Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina
- 2026-06TGF-β signaling promotes astroglial activation and TDP-43 proteinopathy in organoid models of frontotemporal lobar degeneration
- 2026-06Clinical Symptoms in Late Infantile and Juvenile Onset Neuronal Ceroid Lipofuscinosis Type 7 (CLN7 Disease)
- 2026-06Exploratory Analysis of Neuroimaging and Molecular Findings in a Cohort of Neuronal Ceroid Lipofuscinosis: a Descriptive study
- 2026-06Behavioral and emotional symptoms and quality of life in a national sample of individuals with CLN3 Batten disease
- 2026-06Characterization of a novel homozygous CTSD variant causing adult-onset neuronal ceroid lipofuscinosis type 10: a case report
- 2026-06综述开放获取Enigma of autism regression mechanistic pathways, clinical phenotypes, and early intervention implications
- 2026-06综述开放获取Cathepsin Z/X: Breaking Down the Known and Unknown
- 2026-06综述开放获取Protein Palmitoylation as a Molecular Switch Linking Regulated Cell Death and Disease
- 2026-06综述开放获取Deciphering Freezing of Gait: What Neuropathology Reveals About an Episodic Phenomenon
- 2026-06开放获取Taliglucerase Alfa Reduces Amyloid-β Burden by Restoring Autophagic Pathways in a Neuronal Model of Alzheimer's Disease
- 2026-05综述开放获取The role of protein palmitoylation in disease pathogenesis and therapeutic innovation
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。
已获孤儿药资格、尚未获批的在研药物（17 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。
- 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。
中国境外的在招试验 14L2
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 14 项。
- 尚未开始招募NCT04637282Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3
- 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）