Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, Saint Louis, MO, 63110, USA.
Cure VCP Disease, Inc., Americus, GA, USA.
Orphanet J Rare Dis. 2020 Sep 29;15(1):267. doi: 10.1186/s13023-020-01551-0.
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.
含缬氨酸蛋白（VCP）基因突变会导致成年起病包涵体肌病、骨 Paget 病和额颞叶痴呆，也称为多系统蛋白病（MSP）。VCP 相关 MSP 的基因型-表型关系仍在确定中；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无力模式。
Cure VCP 疾病公司成立于 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方法。Cure VCP 疾病患者登记处由 Sanford 罕见疾病协调处维护。从 2018 年 6 月至 2020 年 5 月，从 59 名参与者（28 名男性和 31 名女性）那里获得了两份包含 5 分李克特量表问题的问卷的结果，这些问题涉及患者的疾病发作、症状和日常生活。在登记处之外，22 名患者在 2019 年 Cure VCP 疾病年度患者会议上接受了检查。
在登记处的问卷中，53 名患者（90%）报告他们患有包涵体肌病，17 名患者（29%）患有骨 Paget 病，8 名患者（14%）患有痴呆，2 名患者（3%）患有肌萎缩侧索硬化症，1 名患者患有帕金森病。13 名患者（22%）报告吞咽困难，25 名患者（42%）报告运动时呼吸困难。自我报告的运动功能功能评定量表确定了坐立、行走和爬楼梯的挑战（72%、67%和 85%）。登记处的 35 名（59%）患者回答说他们的生活质量好于良好。在 Cure VCP 疾病年度会议上评估的 22 名患者中，50%的患者有面部无力，55%的患者有肩胛带翼状，68%的患者有近端上肢无力，41%的患者有上肢远端无力，77%的患者有近端下肢无力，64%的患者有下肢远端无力。
Cure VCP 疾病患者登记处有助于加深对患者日常生活的理解，这将是制定适当临床结果测量的基础。登记处的数据与以前在临床环境中评估 VCP 患者的研究一致。患者权益组织对于开发和维护疾病登记处至关重要。
