Labcorp Drug Development, Gaithersburg, MD, USA.
Sarepta Therapeutics, Inc., Cambridge, MA, USA.
Adv Ther. 2023 May;40(5):2296-2310. doi: 10.1007/s12325-023-02463-8. Epub 2023 Mar 14.
Limb girdle muscular dystrophies (LGMDs) are a group of rare and heterogeneous disorders involving progressive wasting of shoulder and pelvic girdle musculature. This study aimed to generate qualitative evidence on patient and caregiver experiences with symptoms and impacts of LGMD on overall function and daily life for sarcoglycanopathy subtypes 2C/R5, 2D/R3, and 2E/R4.
Twenty-three individuals with LGMD with (n = 5) or without (n = 18) a caregiver participated in 60-minute semi-structured video interviews. Interview transcripts were analyzed using thematic analysis. Differences in patient experience by ambulation status and LGMD subtype were examined.
Participants were ambulatory (n = 14) and non-ambulatory (n = 9), representing three subtypes: 2C/R5 (n = 4), 2D/R3 (n = 12), and 2E/R4 (n = 7), with mean age of 34.8 years (SD = 16.08). 56.5% identified as female. Conceptual saturation was achieved within 18/23 interviews. Ambulatory participants identified difficulty with complex physical activities, e.g., running (n = 11, 78.6%), physical strength (n = 14, 100%), and difficulty with transfers, e.g., difficulty getting off the floor (n = 10, 71.4%). All non-ambulatory participants discussed problems with activities of daily living (ADLs) and transfers, e.g., getting in/out of bed and upper extremity function, particularly reaching (n = 8, 88.9%) and fine motor skills (n = 6, 66.7%). Fatigue and pain were reported by the majority of participants (n = 16, 69.6% and n = 19, 82.6%, respectively). A conceptual disease model was developed illustrating symptoms and impacts and their relationships to disease stage, capturing the patient experience across LGMD disease trajectory.
This study contributes to the limited evidence describing the patient experience of living with LGMD. The conceptual model can inform patient-centered assessment in future LGMD clinical trials.
肢带型肌肉营养不良症（LGMDs）是一组罕见且异质性的疾病，涉及肩部和骨盆带肌肉进行性消瘦。本研究旨在针对假性肥大型肌营养不良症 2C/R5、2D/R3 和 2E/R4 亚型患者和照顾者的症状以及对整体功能和日常生活的影响的体验，生成定性证据。
23 名患有 LGMD 的患者（有照顾者的患者 n=5，无照顾者的患者 n=18）参与了时长 60 分钟的半结构式视频访谈。使用主题分析对访谈记录进行分析。根据步行状态和 LGMD 亚型对患者体验进行了差异检验。
参与者可步行（n=14）和不可步行（n=9），分别代表三个亚型：2C/R5（n=4）、2D/R3（n=12）和 2E/R4（n=7），平均年龄为 34.8 岁（SD=16.08）。56.5%的参与者为女性。在 18/23 次访谈中达到了概念饱和。可步行的参与者认为复杂的体育活动很困难，例如跑步（n=11，78.6%）、体力（n=14，100%）和转移困难，例如难以从地板上站起来（n=10，71.4%）。所有不能行走的参与者都讨论了日常生活活动（ADLs）和转移方面的问题，例如上下床和上肢功能，尤其是伸手（n=8，88.9%）和精细运动技能（n=6，66.7%）。大多数参与者（n=16，69.6%）和 n=19，82.6%）报告疲劳和疼痛。制定了一个概念性疾病模型，说明症状和影响及其与疾病阶段的关系，捕捉了 LGMD 疾病轨迹中患者的体验。
本研究有助于描述患有 LGMD 患者的生活体验的有限证据。该概念模型可以为未来 LGMD 临床试验中的以患者为中心的评估提供信息。
