PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: The study was a qualitative interview study.
UNASSIGNED: 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.
UNASSIGNED: Interview transcripts were coded for themes, and reported symptoms were summarized with descriptive statistics. Adult-onset patients (N = 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 (N = 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.
UNASSIGNED: 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.
Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life through interviews with patients and caregivers Why was the study done? Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare and progressive brain disorder. Little is known about the patient and caregiver experience living with DRPLA and this lack of information has hindered the development of patient-focused treatments and the measurement of outcomes that are most meaningful to caregivers and patients. What did the researchers do? To address this problem, researchers conducted interviews with patients and caregivers of DRPLA to (1) better 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. What did the researchers find? Eighteen patients were described in the interviews. Adult-onset patients (onset at age 20 or older) experienced difficulty with coordination, cognition, motor skills, speech, personality changes, and seizures. Juvenile-onset patients (onset before age 20) experienced difficulty with coordination, sleep, speech, jerking/twitching, behavior, cognition, motor skills, sensory sensitivity, and seizures. When considering symptoms to prioritize for future treatment, patients and caregivers identified coordination/mobility, independence, and personality as important. Nearly all participants indicated they would participate in a clinical trial if given an opportunity, however half expressed that travel to a clinical site could pose a barrier. What do the findings mean? This study provides a better understanding of the symptoms experienced by DRPLA patients and their impact on daily life. Additionally, it identifies important targets for treatment and considerations when designing clinical trials for DRPLA such as the barrier caused by travel to a clinical site.
UNASSIGNED: 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.
UNASSIGNED: The study was a qualitative interview study.
UNASSIGNED: 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.
UNASSIGNED: Interview transcripts were coded for themes, and reported symptoms were summarized with descriptive statistics. Adult-onset patients (N = 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 (N = 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.
UNASSIGNED: 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.
Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life through interviews with patients and caregivers Why was the study done? Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare and progressive brain disorder. Little is known about the patient and caregiver experience living with DRPLA and this lack of information has hindered the development of patient-focused treatments and the measurement of outcomes that are most meaningful to caregivers and patients. What did the researchers do? To address this problem, researchers conducted interviews with patients and caregivers of DRPLA to (1) better 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. What did the researchers find? Eighteen patients were described in the interviews. Adult-onset patients (onset at age 20 or older) experienced difficulty with coordination, cognition, motor skills, speech, personality changes, and seizures. Juvenile-onset patients (onset before age 20) experienced difficulty with coordination, sleep, speech, jerking/twitching, behavior, cognition, motor skills, sensory sensitivity, and seizures. When considering symptoms to prioritize for future treatment, patients and caregivers identified coordination/mobility, independence, and personality as important. Nearly all participants indicated they would participate in a clinical trial if given an opportunity, however half expressed that travel to a clinical site could pose a barrier. What do the findings mean? This study provides a better understanding of the symptoms experienced by DRPLA patients and their impact on daily life. Additionally, it identifies important targets for treatment and considerations when designing clinical trials for DRPLA such as the barrier caused by travel to a clinical site.
摘要：
■牙齿-苍白萎缩（DRPLA）是一种罕见的，没有疾病改善治疗的神经退行性疾病。文献中缺乏关于患者和护理人员使用DRPLA的经历的信息。
■本研究旨在（1）了解成人和青少年发病的DRPLA人群所经历的症状及其对日常生活的影响，以及（2）探索患者和护理人员的治疗目标和临床试验参与偏好。
■这项研究是一项定性访谈研究。
■对患有DRPLA的成年患者和护理人员进行远程访谈。参与者描述了患者症状以及这些症状对日常生活的影响，他们讨论了治疗目标和潜在的临床试验参与。在与两名患者和七名护理人员的访谈中描述了18名患者。一些参与者是多个DRPLA患者的护理人员。
■面试记录按主题编码，并对报告的症状进行描述性统计。成年患者（N=7）出现共济失调困难（100％），认知(100%)，精细运动技能(100%)，总运动技能(100%)，演讲（100%）人格改变（100%），和缉获量（57%）。青少年发病患者（N=11）出现共济失调困难（100%），睡眠（100%）演讲（100%）抽搐/抽搐（83％），行为（82%），认知（82%），精细运动技能(82%)，总运动技能(82%)，感官敏感度（75%），和缉获量(64%)。在考虑DRPLA的各个方面以将来的治疗为目标时，患者优先共济失调/流动性（100％），青少年照顾者优先考虑共济失调/流动性（60％）和独立性（60％），成人护理者优先考虑人格(60%)。如果有机会，几乎所有患者（93％）都会参加临床试验，但是前往临床地点可能会造成一半的参与障碍。
■这项研究发现，在DRPLA人群中存在相关的症状域，但是根据症状发作的年龄和疾病阶段，每个领域内都存在异质性，这对临床试验设计有影响。
通过与患者和护理人员的访谈了解牙齿-苍白萎缩（DRPLA）症状及其对日常生活的影响。为什么要进行这项研究？牙齿-苍白萎缩（DRPLA）是一种罕见且进行性的脑部疾病。对患者和护理人员使用DRPLA的经历知之甚少，这种信息的缺乏阻碍了以患者为中心的治疗方法的发展以及对护理人员和患者最有意义的结果的测量。研究人员做了什么？为了解决这个问题，研究人员对DRPLA的患者和护理人员进行了访谈,以(1)更好地了解成年和青少年发病的DRPLA人群所经历的症状及其对日常生活的影响;(2)探索患者和护理人员的治疗目标和临床试验参与偏好.研究人员发现了什么？访谈中描述了18名患者。成年患者（20岁或以上发病）出现协调困难，认知，运动技能,演讲,人格改变,和癫痫发作。青少年发病患者（20岁之前发病）出现协调困难，睡眠,演讲,抽搐/抽搐，行为，认知，运动技能,感官敏感性，和癫痫发作。当考虑症状优先考虑将来的治疗时，患者和护理人员确定了协调性/流动性，独立性,个性同样重要。几乎所有参与者都表示，如果有机会，他们将参加临床试验，然而，一半的人表示前往临床地点可能会造成障碍。这项研究提供了对DRPLA患者所经历的症状及其对日常生活的影响的更好理解。此外,它确定了治疗的重要目标和设计DRPLA临床试验时的注意事项，例如前往临床地点造成的障碍。
■本研究旨在（1）了解成人和青少年发病的DRPLA人群所经历的症状及其对日常生活的影响，以及（2）探索患者和护理人员的治疗目标和临床试验参与偏好。
■这项研究是一项定性访谈研究。
■对患有DRPLA的成年患者和护理人员进行远程访谈。参与者描述了患者症状以及这些症状对日常生活的影响，他们讨论了治疗目标和潜在的临床试验参与。在与两名患者和七名护理人员的访谈中描述了18名患者。一些参与者是多个DRPLA患者的护理人员。
■面试记录按主题编码，并对报告的症状进行描述性统计。成年患者（N=7）出现共济失调困难（100％），认知(100%)，精细运动技能(100%)，总运动技能(100%)，演讲（100%）人格改变（100%），和缉获量（57%）。青少年发病患者（N=11）出现共济失调困难（100%），睡眠（100%）演讲（100%）抽搐/抽搐（83％），行为（82%），认知（82%），精细运动技能(82%)，总运动技能(82%)，感官敏感度（75%），和缉获量(64%)。在考虑DRPLA的各个方面以将来的治疗为目标时，患者优先共济失调/流动性（100％），青少年照顾者优先考虑共济失调/流动性（60％）和独立性（60％），成人护理者优先考虑人格(60%)。如果有机会，几乎所有患者（93％）都会参加临床试验，但是前往临床地点可能会造成一半的参与障碍。
■这项研究发现，在DRPLA人群中存在相关的症状域，但是根据症状发作的年龄和疾病阶段，每个领域内都存在异质性，这对临床试验设计有影响。
通过与患者和护理人员的访谈了解牙齿-苍白萎缩（DRPLA）症状及其对日常生活的影响。为什么要进行这项研究？牙齿-苍白萎缩（DRPLA）是一种罕见且进行性的脑部疾病。对患者和护理人员使用DRPLA的经历知之甚少，这种信息的缺乏阻碍了以患者为中心的治疗方法的发展以及对护理人员和患者最有意义的结果的测量。研究人员做了什么？为了解决这个问题，研究人员对DRPLA的患者和护理人员进行了访谈,以(1)更好地了解成年和青少年发病的DRPLA人群所经历的症状及其对日常生活的影响;(2)探索患者和护理人员的治疗目标和临床试验参与偏好.研究人员发现了什么？访谈中描述了18名患者。成年患者（20岁或以上发病）出现协调困难，认知，运动技能,演讲,人格改变,和癫痫发作。青少年发病患者（20岁之前发病）出现协调困难，睡眠,演讲,抽搐/抽搐，行为，认知，运动技能,感官敏感性，和癫痫发作。当考虑症状优先考虑将来的治疗时，患者和护理人员确定了协调性/流动性，独立性,个性同样重要。几乎所有参与者都表示，如果有机会，他们将参加临床试验，然而，一半的人表示前往临床地点可能会造成障碍。这项研究提供了对DRPLA患者所经历的症状及其对日常生活的影响的更好理解。此外,它确定了治疗的重要目标和设计DRPLA临床试验时的注意事项，例如前往临床地点造成的障碍。
