Phenotypic diversity in an international Cure VCP Disease registry.
Phenotypic diversity in an international Cure VCP Disease registry.
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DOI：
10.1186/s13023-020-01551-0
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发表时间：
2020-09-29
影响因子：
3.7
通讯作者：
Weihl CC
中科院分区：
文献类型：
--
作者：
Ikenaga C;Findlay AR;Seiffert M;Peck A;Peck N;Johnson NE;Statland JM;Weihl CC
含缬氨肽蛋白（valosin-containing protein，VCP）基因的显性突变可引起成人包涵体肌病、佩吉特骨病和额颞叶痴呆（又称多系统蛋白病，MSP）。VCP相关MSP的基因型-表型关系仍在定义中;为了更好地理解这一点，我们研究了Cure VCP疾病患者登记处的表型多样性和虚弱模式。Cure VCP Disease，Inc.成立于2018年，旨在将VCP基因突变患者与研究人员联系起来，以帮助推进治疗和治愈。治愈VCP疾病患者登记处由桑福德罕见疾病协调中心维护。在2018年6月至2020年5月期间，从59名参与者（28名男性和31名女性）中获得了两份问卷的结果，其中包括关于患者疾病发作，症状和日常生活的5分Likert量表问题。独立于登记研究，2019年在Cure VCP疾病年度患者会议上对22例患者进行了检查。在登记研究的问卷调查中，53名患者（90%）报告他们患有包涵体肌病，17名患者（29%）患有佩吉特骨病，8名患者（14%）患有痴呆症，2名患者（3%）患有肌萎缩侧索硬化症，1名患者患有帕金森症。13例患者（22%）报告吞咽困难，25例患者（42%）报告劳力性呼吸困难。运动功能的自我报告功能评定量表确定了坐立（72%），行走（67%）和爬楼梯（85%）的挑战。登记研究中的35例（59%）患者回答其生活质量非常好。关于在Cure VCP疾病年会上评价的22名患者的无力模式，50%的患者有面部无力，55%有肩胛翼，68%有上近端无力，41%有上远端无力，77%有下近端无力，64%有下远端无力。治愈VCP疾病患者登记有助于加深对患者日常生活的了解，这将是制定适当临床结局指标的基础。登记研究数据与先前在临床环境中评价VCP患者的研究一致。患者倡导团体在发展和维护疾病登记方面至关重要。
Dominant mutations in valosin-containing protein (VCP) gene cause an adult onset inclusion body myopathy, Paget’s disease of bone, and frontotemporal dementia also termed multisystem proteinopathy (MSP). The genotype-phenotype relationships in VCP-related MSP are still being defined; in order to understand this better, we investigated the phenotypic diversity and patterns of weakness in the Cure VCP Disease Patient Registry. Cure VCP Disease, Inc. was founded in 2018 for the purpose of connecting patients with VCP gene mutations and researchers to help advance treatments and cures. Cure VCP Disease Patient Registry is maintained by Coordination of Rare Diseases at Sanford. The results of two questionnaires with a 5-point Likert scale questions regarding to patients’ disease onset, symptoms, and daily life were obtained from 59 participants (28 males and 31 females) between June 2018 and May 2020. Independent of the registry, 22 patients were examined at the Cure VCP Disease annual patient conference in 2019. In the questionnaires of the registry, fifty-three patients (90%) reported that they were with inclusion body myopathy, 17 patients (29%) with Paget’s disease of bone, eight patients (14%) with dementia, two patients (3%) with amyotrophic lateral sclerosis, and a patient with parkinsonism. Thirteen patients (22%) reported dysphagia and 25 patients (42%) reported dyspnea on exertion. A self-reported functional rating scale for motor function identified challenges with sit to stand (72%), walking (67%), and climbing stairs (85%). Thirty-five (59%) patients in the registry answered that their quality of life is more than good. As for the weakness pattern of the 22 patients who were evaluated at the Cure VCP Disease annual conference, 50% of patients had facial weakness, 55% had scapular winging, 68% had upper proximal weakness, 41% had upper distal weakness, 77% had lower proximal, and 64% had lower distal weakness. The Cure VCP Disease Patient Registry is useful for deepening the understanding of patient daily life, which would be a basis to develop appropriate clinical outcome measures. The registry data is consistent with previous studies evaluating VCP patients in the clinical setting. Patient advocacy groups are essential in developing and maintaining disease registries.
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影响因子：
5.1
作者：
Spina S;Van Laar AD;Murrell JR;Hamilton RL;Kofler JK;Epperson F;Farlow MR;Lopez OL;Quinlan J;DeKosky ST;Ghetti B
通讯作者：
Ghetti B
影响因子：
3.5
作者：
Al-Obeidi E;Al-Tahan S;Surampalli A;Goyal N;Wang AK;Hermann A;Omizo M;Smith C;Mozaffar T;Kimonis V
通讯作者：
Kimonis V
影响因子：
9.9
作者：
Weihl, Conrad C.;Connolly, Anne M.;Pestronk, Alan
通讯作者：
Pestronk, Alan
影响因子：
4.2
作者：
Bersano, Anna;Del Bo, Roberto;Corti, Stefania
通讯作者：
Corti, Stefania
影响因子：
3.4
作者：
Kazamel, Mohamed;Sorenson, Eric J.;Milone, Margherita
通讯作者：
Milone, Margherita