X连锁肾上腺脑白质营养不良
X-linked adrenoleukodystrophy
定义 英文原文（暂无中文）
A rare progressive peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy.
别名
X连锁肾上腺脑白质营养不良
基本事实
- 遗传方式
- X 连锁显性
- 发病年龄
- 青少年期、成年期、儿童期、老年期
- 患病率
- 1-9 / 1 000 000（Norway）
临床表型 36
极常见 99–80%21
- 代谢紊乱/稳态失衡 HP:0001939
- 视力异常 HP:0000504
- 注意力缺陷多动障碍 HP:0007018
- 非典型行为 HP:0000708
- 笨拙 HP:0002312
- 认知功能损害 HP:0100543
- 痴呆 HP:0000726
- 功能性运动障碍 HP:0004302
- 步态异常 HP:0001288
- 头痛 HP:0002315
- 多动症 HP:0000752
- 不协调 HP:0002311
- 智力障碍 HP:0001249
- 腿部肌肉僵硬 HP:0008969
- 下肢轻瘫 HP:0002385
- 渐进性听力受损 HP:0001730
- 进行性痉挛性轻瘫 HP:0007199
- 躯体感觉异常 HP:0003474
- 特定的学习障碍 HP:0001328
- 视觉障碍 HP:0000505
- 视力丧失 HP:0000572
常见 79–30%12
- 肾上腺生理异常 HP:0011733
- 肾上腺功能不全 HP:0000846
- 攻击性行为 HP:0000718
- 失语症 HP:0002381
- 脱抑制 HP:0000734
- 轻偏瘫 HP:0001269
- 异常性行为 HP:0008768
- 血促肾上腺皮质激素（ACTH）水平升高 HP:0003154
- 颅内压增高 HP:0002516
- 神经源性膀胱功能障碍 HP:0000011
- 膀胱括约肌功能障碍 HP:0002839
- 视野缺损 HP:0001123
偶见 29–5%3
- 复视 HP:0000651
- 阳痿 HP:0000802
- 瘫痪 HP:0003470
近两年的全球研究 357L2
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开放获取Expanded Umbilical Cord Blood Transplantation in Cerebral X-Linked Adrenoleukodystrophy: A Case Report
- 2026-09开放获取Letter to the Editor from Erdoğan Özbuğday and Karakurt: "Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy"
- 2026-09综述A Systematic Review of Positron Emission Tomography (PET) in X-Linked Adrenoleukodystrophy: Beyond Structural MRI
- 2026-09Correction to: "The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration"
- 2026-09开放获取Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications
- 2026-09综述开放获取Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets
- 2026-09综述开放获取FEEDSETUP: feeding difficulties spectrum evaluation and treatment up-to-date proposal
- 2026-09综述开放获取Progress and Prospects of Newborn Screening in China
- 2026-09Effects of combined nutritional interventions on the natural history of X-linked adrenoleukodystrophy in female carriers
- 2026-09综述开放获取Microglia and neuroinflammation: An in-depth analysis from functional diversity to disease mechanisms
- 2026-08开放获取Inpatient Deaths in Pediatric Leukodystrophies
- 2026-08综述开放获取Mitochondrial Control of Myelination, Bioenergetics, Oxidative Stress, and the Pathogenesis of Optic Neuropathies
- 2026-08开放获取Potential for Genomics to Help Guide Preventive Strategies in Psychiatry
- 2026-08Thirty-three years of X-linked adrenoleukodystrophy diagnosis at a Brazilian reference center: diagnostic patterns and key findings
- 2026-08开放获取The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil
- 2026-08病例报告开放获取ABCD1-Related Disease Presenting as an Upper Motor Neuron-Predominant Amyotrophic Lateral Sclerosis Mimic in a Colombian Female Heterozygote: A Case Report
- 2026-08病例报告Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy
- 2026-08Childhood-onset neurodegeneration and brain atrophy: defining <i>UBTF</i>-related developmental regression and progressive ataxia
- 2026-08开放获取The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening
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（7 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。
- sobetirome美国2011-04-29Treatment of X-linked adrenoleukodystrophy官方记录
- ((4-(3-benzyl-4-hydroxybenzyl)-3,5-dimethylphenoxy)methyl)phosphonic a美国2016-12-05Treatment of X-linked adrenoleukodystrophy官方记录
- hydroxypioglitazone美国2017-01-30Treatment of X-linked adrenoleukodystrophy官方记录
- generation 4 hydroxyl-terminated polyamidoamine dendrimer containing a美国2017-03-22Treatment of x-linked adrenoleukodystrophy官方记录
- 2?(3,5?dichloro?4?([4?hydroxy?3?(propan?2?yl)phenyl]methyl)phenoxy)?N?美国2021-07-22Treatment of X-linked Adrenoleukodystrophy官方记录
- (R)-5-({4-[2-(5-ethyl-2-pyridyl)ethoxy]phenyl}methyl)-(5-2H)-1,3-thiaz美国2022-04-11Treatment of X-Linked Adrenoleukodystrophy官方记录
- potassium 2-chloro-3-(1-hydroxy-5,6,7,8-tetrahydronaphthalen-2-yl)-6-o美国2022-05-12Treatment of X-Linked Adrenoleukodystrophy (ALD)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 5L2
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 3
- 招募中NCT05939232Registry of X-linked Adrenoleukodystrophy中国研究中心 1 个：Beijing
- 招募中NCT06796920Epidural Spinal Cord Stimulation for Lower-limb Impairment in Adrenomyeloneuropathy中国研究中心 4 个：Beijing、Chongqing、Jingmen
- 尚未开始招募NCT03727555IT and IV Lentiviral Gene Therapy for X-ALD中国研究中心 1 个：Shenzhen
其他状态的试验（2 项）
- 状态未知NCT02559830Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy中国研究中心 1 个：Shenzhen
- 已撤回NCT03649919Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children中国研究中心 1 个：Shanghai
中国境外的在招试验 16L2
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8法国2意大利1德国1
CT.gov 报告命中 16 项，此处取回并展示最近的 13 项。
- 招募中NCT06224413A Study of Participants With Cerebral Adrenoleukodystrophy (CALD) Treated With Elivaldogene Autotemcel美国
- 招募中NCT06178120Disease Progression in Women With X-linked Adrenoleukodystrophy法国
- 尚未开始招募NCT05911919Validation of a Prognostic Biomarker Using Brain Diffusion MRI in X-linked Adrenoleukodystrophy
- 招募中NCT05443906Home Exercise for Individuals With Neurodegenerative Disease美国
- 招募中NCT04925349Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia法国
- 招募中NCT04880356Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.意大利
- 招募中NCT04528355Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC美国
- 招募中NCT04675749Quality of Life in Women With X-linked Adrenoleukodystrophy德国
- 招募中NCT03789721Adrenoleukodystrophy National Registry Study美国
- 招募中NCT03047369The Myelin Disorders Biorepository Project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NCT01962415Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT美国
- 可获取（拓展性用药）NCT01881334Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants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）