Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Medical Diagnostics, Faculty of Pharmacy, Jagiellonian University Medical College, Medyczna 9, 30-688 Krakow, Poland.
Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Mol Genet Metab. 2022 Jun;136(2):145-151. doi: 10.1016/j.ymgme.2022.04.002. Epub 2022 Apr 20.
Patient-reported outcomes (PROs) measure important aspects of disease burden, however they have received limited attention in the care of patients with Congenital Disorders of Glycosylation (CDG). We evaluated the PROs and correlation between clinical disease severity scoring and reported quality of life (QoL) in a PMM2-CDG patient cohort. Twenty-five patients with diagnosis of PMM2-CDG were enrolled as part of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) natural history study. Patient- Reported Outcomes Measurement Information System (PROMIS) was completed by caregivers to assess health-related QoL. Clinical disease severity was scored by medical providers using the Nijmegen Progression CDG Rating Scale (NPCRS). The domains such as physical activity, strength impact, upper extremity, physical mobility, and a satisfaction in social roles (peer relationships) were found to be the most affected in the PMM2-CDG population compared to US general population. We found a strong correlation between NPCRS 1 (current functional ability) and three out of ten PROMIS subscales. NPCRS 2 (laboratory and organ function) and NPCRS 3 (neurological involvement) did not correlate with PROMIS. Mental health domains, such as anxiety, were positively correlated with depressive symptoms (r = 0.76, p = 0.004), fatigue (r = 0.67, p = 0.04). Surprisingly, patients with severely affected physical mobility showed low anxiety scores according to PROMIS (inverse correlation, r = -0.74, p = 0.005). Additionally, there was a positive correlation between upper extremity and physical mobility (r = 0.75, p = 002). Here, we found that PROMIS is an informative additional tool to measure CDG disease burden, which could be used as clinical trial outcome measures. The addition of PROMIS to clinical follow-up could help improve the quality of care for PMM2-CDG by facilitating a holistic approach for clinical decision-making. SYNOPSIS: We recommend PROMIS as an informative tool to measure disease burden in PMM2-CDG in addition to traditional CDG disease severity scores.
患者报告的结果 (PROs) 衡量疾病负担的重要方面，但在先天性糖基化障碍 (CDG) 患者的治疗中受到的关注有限。我们评估了 PMM2-CDG 患者队列中的 PROs 以及临床疾病严重程度评分与报告的生活质量 (QoL) 之间的相关性。作为先天性糖基化障碍联合会 (FCDGC) 自然史研究的一部分，纳入了 25 名 PMM2-CDG 诊断患者。照顾者完成了患者报告的结果测量信息系统 (PROMIS) 以评估与健康相关的 QoL。医疗提供者使用尼姆斯进步 CDG 评分量表 (NPCRS) 对临床疾病严重程度进行评分。与美国普通人群相比，PMM2-CDG 人群中发现身体活动、力量影响、上肢、身体移动和社交角色满意度等领域受到的影响最大。我们发现 NPCRS 1（当前功能能力）与 PROMIS 十个子量表中的三个有很强的相关性。NPCRS 2（实验室和器官功能）和 NPCRS 3（神经受累）与 PROMIS 不相关。心理健康领域，如焦虑，与抑郁症状呈正相关（r = 0.76，p = 0.004），与疲劳呈正相关（r = 0.67，p = 0.04）。令人惊讶的是，根据 PROMIS，身体移动能力严重受限的患者焦虑评分较低（负相关，r = -0.74，p = 0.005）。此外，上肢与身体移动性呈正相关（r = 0.75，p = 002）。在这里，我们发现 PROMIS 是一种有用的附加工具，可以衡量 CDG 疾病负担，可用于临床试验的结果衡量。将 PROMIS 添加到临床随访中可以通过促进临床决策的整体方法来改善 PMM2-CDG 的护理质量。摘要：我们建议将 PROMIS 作为一种有用的工具，除了传统的 CDG 疾病严重程度评分外，还可以衡量 PMM2-CDG 的疾病负担。
