A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa
Abstract Background 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. Methods Patients with confirmed DEB diagnosis and ≥ 5 m...
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| Format: | Article |
| Language: | English |
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BMC
2022-08-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02461-z |
| _version_ | 1811320873950380032 |
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| author | Amy S. Paller Elena Pope Dan Rudin Anna Malyala Deborah Ramsdell Ramsey Johnson Hal Landy Dedee F. Murrell the DEB Investigators |
| author_facet | Amy S. Paller Elena Pope Dan Rudin Anna Malyala Deborah Ramsdell Ramsey Johnson Hal Landy Dedee F. Murrell the DEB Investigators |
| author_sort | Amy S. Paller |
| collection | DOAJ |
| description | Abstract Background 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. Methods 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. Results 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. Conclusions 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 . |
| first_indexed | 2024-04-13T13:07:14Z |
| format | Article |
| id | doaj.art-3e75f577df8b4e79a2c4a0961c0877f0 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-13T13:07:14Z |
| publishDate | 2022-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-3e75f577df8b4e79a2c4a0961c0877f02022-12-22T02:45:43ZengBMCOrphanet Journal of Rare Diseases1750-11722022-08-0117111610.1186/s13023-022-02461-zA prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosaAmy S. Paller0Elena Pope1Dan Rudin2Anna Malyala3Deborah Ramsdell4Ramsey Johnson5Hal Landy6Dedee F. Murrell7the DEB InvestigatorsDepartments of Dermatology and Pediatrics, Northwestern University Feinberg School of MedicineSection of Pediatric Dermatology, The Hospital for Sick Children, and University of TorontoPhoenix Tissue RepairPhoenix Tissue RepairPhoenix Tissue RepairPhoenix Tissue RepairPhoenix Tissue RepairDepartment of Dermatology, St George Hospital, University of NSWAbstract Background 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. Methods 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. Results 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. Conclusions 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 .https://doi.org/10.1186/s13023-022-02461-zDystrophic epidermolysis bullosaClinician-assessed outcomesQuality of lifePatient-reported outcomesDisease severityOutcome measures |
| spellingShingle | Amy S. Paller Elena Pope Dan Rudin Anna Malyala Deborah Ramsdell Ramsey Johnson Hal Landy Dedee F. Murrell the DEB Investigators A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa Orphanet Journal of Rare Diseases Dystrophic epidermolysis bullosa Clinician-assessed outcomes Quality of life Patient-reported outcomes Disease severity Outcome measures |
| title | A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa |
| title_full | A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa |
| title_fullStr | A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa |
| title_full_unstemmed | A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa |
| title_short | A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa |
| title_sort | prospective short term study to evaluate methodologies for the assessment of disease extent impact and wound evolution in patients with dystrophic epidermolysis bullosa |
| topic | Dystrophic epidermolysis bullosa Clinician-assessed outcomes Quality of life Patient-reported outcomes Disease severity Outcome measures |
| url | https://doi.org/10.1186/s13023-022-02461-z |
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