Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, 676 North St Clair Street, Suite 1600, Chicago, IL, 60611-2997, USA.
Section of Pediatric Dermatology, The Hospital for Sick Children, and University of Toronto, Toronto, ON, Canada.
Orphanet J Rare Dis. 2022 Aug 13;17(1):314. doi: 10.1186/s13023-022-02461-z.
Standardized assessments for dystrophic epidermolysis bullosa (DEB) are needed. This prospective, multicenter, 4-week, observational study was designed to evaluate DEB assessments for suitability as clinical trial endpoints.
Patients with confirmed DEB diagnosis and ≥ 5 measurable wounds were included. The primary outcome was change from baseline in wound surface area (WSA) of 5 selected wounds by 3-dimensional imaging. Secondary endpoints were change from baseline in clinician global assessment (CGA) of WSA, wound characteristics, disease-related questionnaires and instruments (disease severity, quality of life [QoL], pain and disability, and itch), and tolerability of procedures.
Of 30 enrolled patients, 29 completed the study (of whom, 28 had recessive DEB). Median age was 17.8 years (range, 3.8-58.7). All patients developed new or recurrent wounds during the 4-week study. Of the wounds selected at baseline, 45/150 (30.0%) healed by week 2; an additional 38 healed by week 4, while 8 of those healed at week 2 had recurred by week 4 for a total of 75/150 (50.0%) healed wounds at week 4. Mean values for WSA, CGA, and disease-related questionnaire and instrument scores remained steady during this 4-week observational study. Of the 10 disease-related questionnaires and instruments assessed, the scores for the Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) and the Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa (iscorEB) did not substantially overlap between moderate and severe disease. Between mild and moderate disease, only the EBDASI scores did not substantially overlap.
These results stress the dynamic nature of wounds, even during a 4-week period of observation, and suggest that a combination of clinician-assessed outcomes and patient-/caregiver-reported outcomes is needed to provide a comprehensive assessment of DEB severity and impact. In addition, these results support the use of EBDASI and iscorEB to monitor disease severity as both produced scores that did not substantially overlap between disease severity strata. Clinical trial registration ClinicalTrials.gov, NCT02178969 . Registered 4 June 2014, https://clinicaltrials.gov/ct2/show/NCT02178969 .
需要对营养不良型大疱性表皮松解症 (DEB) 进行标准化评估。本前瞻性、多中心、4 周、观察性研究旨在评估 DEB 评估是否适合作为临床试验终点。
纳入确诊为 DEB 且有≥5 个可测量创面的患者。主要结局是通过三维成像评估 5 个选定创面的基线至第 4 周时的创面面积（WSA）变化。次要结局是临床医生整体评估（CGA）的基线至第 4 周时的 WSA、创面特征、疾病相关问卷和量表（疾病严重程度、生活质量 [QoL]、疼痛和残疾、瘙痒）的变化，以及操作的耐受性。
30 名入组患者中，29 名完成了研究（其中 28 名为隐性 DEB）。中位年龄为 17.8 岁（范围 3.8-58.7 岁）。所有患者在 4 周研究期间均出现新的或复发的创面。在基线时选择的创面中，45/150（30.0%）在第 2 周愈合；另外 38 个在第 4 周愈合，而在第 2 周愈合的 8 个创面在第 4 周时复发，第 4 周共愈合 75/150（50.0%）个创面。在这 4 周的观察性研究期间，WSA、CGA 和疾病相关问卷和量表的平均值保持稳定。在评估的 10 种疾病相关问卷和量表中，Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) 和 Instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa (iscorEB) 的评分在中度和重度疾病之间没有明显重叠。在轻度和中度疾病之间，只有 EBDASI 评分没有明显重叠。
这些结果强调了创面的动态变化，即使在 4 周的观察期内也是如此，提示需要结合临床医生评估的结果和患者/照顾者报告的结果，全面评估 DEB 的严重程度和影响。此外，这些结果支持使用 EBDASI 和 iscorEB 来监测疾病严重程度，因为两者在疾病严重程度分层之间的评分均无明显重叠。
临床试验注册ClinicalTrials.gov，NCT02178969。于 2014 年 6 月 4 日注册，https://clinicaltrials.gov/ct2/show/NCT02178969。
