一个基于美国的患者报告的成人多聚葡萄糖体病登记处：初步结果。
A United States-based patient-reported adult polyglucosan body disease registry: initial results.
作者信息
Sparks Jacy, Michelassi Francesco, Thompson John L P, Buchsbaum Richard, Pires Natacha, DeRosa Janet T, Engelstad Kristin, DiMauro Salvatore, Akman Hasan Orhan, Hirano Michio
机构信息
Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, NY, USA.
H. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
出版信息
Ther Adv Rare Dis. 2024 Mar 4;5:26330040241227452. doi: 10.1177/26330040241227452. eCollection 2024 Jan-Dec.
BACKGROUND
Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene. Knowledge of the demographic and clinical characteristics of APBD patients and the natural history of the disease is lacking. We report here initial results from a patient-reported registry of APBD patients.
OBJECTIVES
(1) Maximize the quality of the APBD Registry survey data; (2) provide an initial report on APBD disease progression and natural history using these data; and (3) specify next steps in the process for testing potential new therapies.
DESIGN
Data are from members of the APBD Research Foundation (New York), surveyed from 2014 by the Columbia APBD Patient/Family (CAP) Registry. Inclusion criteria are: disease onset at age 18+ and progressive clinical triad of peripheral neuropathy, spasticity, and neurogenic bladder.
METHODS
Genetic testing results were used when available. Respondents found to not have APBD in clinical records were excluded. All changes and exclusions were recorded in a database edit log. Results are reported in frequency tables, bar graphs, time plots, and heat maps.
RESULTS
The 96 respondents meeting inclusion criteria were predominantly (96.8%) White, highly educated (89.3% at least some college education), and mostly (85.1%) of Ashkenazi Jewish descent. 57.1% had at least one parent born in the United States, with at least one grandparent from Europe (excluding Russia; 75.4%), the United States (42.1%), or Russia (33.3%). 37.2% reported a family history of APBD, and 33.3% had an affected sibling. Median APBD onset age was 51 [Interquartile range (IQR) 11], and median age of diagnosis 57 (IQR 10.5). The 75 reported prior misdiagnoses were mainly peripheral neuropathy (43, 60.6%) and spinal stenosis (11, 15.1%).
CONCLUSION
Although from a demographically constricted survey, the results provide basic clinical information for future studies to develop treatments for APBD.
背景
成人多聚葡萄糖体病（APBD）是一种极为罕见的遗传性神经退行性疾病，由糖原分支酶基因的常染色体隐性突变引起。目前尚缺乏关于APBD患者的人口统计学和临床特征以及该疾病自然史的相关知识。我们在此报告一项患者报告的APBD患者登记研究的初步结果。
目的
（1）最大化APBD登记研究调查数据的质量；（2）利用这些数据提供关于APBD疾病进展和自然史的初步报告；（3）明确测试潜在新疗法过程中的后续步骤。
设计
数据来自APBD研究基金会（纽约）的成员，自2014年起由哥伦比亚APBD患者/家庭（CAP）登记处进行调查。纳入标准为：18岁及以上发病，伴有周围神经病变、痉挛和神经源性膀胱的进行性临床三联征。
方法
如有可用的基因检测结果则加以利用。临床记录中被发现未患APBD的受访者被排除。所有变更和排除情况均记录在数据库编辑日志中。结果以频率表、柱状图、时间图和热图的形式呈现。
结果
符合纳入标准的96名受访者主要为白人（96.8%），受教育程度较高（89.3%至少接受过一些大学教育），且大多（85.1%）为阿什肯纳兹犹太裔。57.1%的受访者至少有一位父母在美国出生，至少有一位祖父母来自欧洲（不包括俄罗斯；75.4%）、美国（42.1%）或俄罗斯（33.3%）。37.2%的受访者报告有APBD家族史，33.3%有患病的兄弟姐妹。APBD发病的中位年龄为51岁[四分位间距（IQR）为11]，诊断的中位年龄为57岁（IQR为10.5）。报告的75例既往误诊主要为周围神经病变（43例，60.6%）和椎管狭窄（11例，15.1%）。
结论
尽管该调查的人口统计学范围有限，但研究结果为未来开发APBD治疗方法的研究提供了基础临床信息。
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