Contesse Marielle G, Woods Rebecca J, Leffler Mindy, Prades Silvia, Greenfield Julie, Compton Andrea, Carroll Jeffrey B
Emmes Endpoint Solutions, Emmes, 401 North Washington Street, Rockville, MD 20850-1707, USA.
Emmes Endpoint Solutions, Emmes, Rockville, MD, USA.
Ther Adv Rare Dis. 2024 May 20;5:26330040241252447. doi: 10.1177/26330040241252447. eCollection 2024 Jan-Dec.
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, neurodegenerative disorder with no disease-modifying treatments. There is a dearth of information in the literature about the patient and caregiver experience living with DRPLA.
This study aimed to (1) understand symptoms experienced by adult- and juvenile-onset DRPLA populations and their impact on daily life and (2) explore patient and caregiver treatment goals and clinical trial participation preferences.
The study was a qualitative interview study.
Interviews were conducted remotely with adult patients with DRPLA and caregivers. Participants described patient symptoms and the impact of those symptoms on daily life, and they discussed treatment goals and potential clinical trial participation. There were 18 patients described in the interviews with two patients and seven caregivers. Some participants were caregivers to multiple patients with DRPLA.
Interview transcripts were coded for themes, and reported symptoms were summarized with descriptive statistics. Adult-onset patients ( = 7) experienced difficulty with ataxia (100%), cognition (100%), fine motor skills (100%), gross motor skills (100%), speech (100%), personality changes (100%), and seizures (57%). Juvenile-onset patients ( = 11) experienced difficulty with ataxia (100%), sleep (100%), speech (100%), jerking/twitching (83%), behavior (82%), cognition (82%), fine motor skills (82%), gross motor skills (82%), sensory sensitivity (75%), and seizures (64%). When considering aspects of DRPLA to target for future treatment, patients prioritized ataxia/mobility (100%), juvenile-onset caregivers prioritized ataxia/mobility (60%) and independence (60%), and adult-onset caregivers prioritized personality (60%). Almost all patients (93%) would participate in a clinical trial if given the opportunity, but travel to a clinical site could pose a participation barrier for half.
This study found that there are symptom domains that are relevant across the DRPLA population, but there is heterogeneity within each domain based on the age of symptom onset and disease stage, which has implications for clinical trial design.
齿状核红核苍白球路易体萎缩症（DRPLA）是一种罕见的神经退行性疾病，目前尚无改善病情的治疗方法。文献中缺乏关于DRPLA患者及其照料者生活体验的信息。
本研究旨在（1）了解成年和青少年起病的DRPLA患者群体所经历的症状及其对日常生活的影响，以及（2）探讨患者和照料者的治疗目标及参与临床试验的偏好。
本研究为定性访谈研究。
对成年DRPLA患者及其照料者进行远程访谈。参与者描述了患者的症状及其对日常生活的影响，并讨论了治疗目标和参与潜在临床试验的情况。访谈中描述了18名患者，包括2名患者和7名照料者。一些参与者是多名DRPLA患者的照料者。
对访谈记录进行主题编码，并用描述性统计方法总结报告的症状。成年起病患者（n = 7）出现共济失调（100%）、认知障碍（100%）、精细运动技能障碍（100%）、粗大运动技能障碍（100%）、言语障碍（100%）、人格改变（100%）和癫痫发作（57%）。青少年起病患者（n = 11）出现共济失调（100%）、睡眠障碍（100%）、言语障碍（100%）、抽搐/震颤（83%）、行为问题（82%）、认知障碍（82%）、精细运动技能障碍（82%）、粗大运动技能障碍（82%）、感觉敏感（75%）和癫痫发作（64%）。在考虑未来治疗的DRPLA靶点时，患者将共济失调/运动能力（100%）列为优先事项，青少年起病患者的照料者将共济失调/运动能力（60%）和独立性（60%）列为优先事项，成年起病患者的照料者将人格（60%）列为优先事项。几乎所有患者（93%）如果有机会都会参加临床试验，但前往临床研究地点可能会成为一半患者参与的障碍。
本研究发现，DRPLA患者群体中存在一些相关的症状领域，但基于症状发作年龄和疾病阶段，每个领域内存在异质性，这对临床试验设计具有启示意义。
