Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa

Jeon, In Kyung; On, Hye Rang; Kim, Soo Chan

doi:10.5021/ad.2016.28.1.6

Cited by 46 publications

(55 citation statements)

References 22 publications

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“…Recalcitrant pain and pruritus are among the most bothersome symptoms of RDEB ( 35 – 38 ). Pain in severe generalized RDEB is often very severe in that it does not respond well to potent opioid analgesics, and its intensity was shown to be greater than in postherpetic neuralgia ( 39 ). RDEB also causes severe pruritus that is thought to be associated with cutaneous inflammation secondary to barrier disruption, wound healing processes, and dysregulated activity of epidermal nerve fibers ( 38 ).…”

Section: Discussionmentioning

confidence: 99%

Intravenous allogeneic umbilical cord blood–derived mesenchymal stem cell therapy in recessive dystrophic epidermolysis bullosa patients

Lee¹,

Lee²,

Kim³

et al. 2021

JCI Insight

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BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease that causes severe mucocutaneous fragility due to mutations in COL7A1 (encoding type VII collagen [C7]). In this phase I/IIa trial, we evaluated the safety and possible clinical efficacy of intravenous infusion of allogeneic human umbilical cord blood–derived mesenchymal stem cells (hUCB-MSCs) in patients with RDEB. METHODS Four adult and two pediatric patients with RDEB were treated with 3 intravenous injections of hUCB-MSCs (1 × 10 6 to 3 × 10 6 cells/kg) every 2 weeks and followed up for 8–24 months after treatment. The primary endpoint was safety. Secondary endpoints related to efficacy included clinical parameters, such as disease severity score, wound assessment, itch and pain score, and quality of life. C7 expression levels and inflammatory infiltrates in the skin, as well as serum levels of inflammatory markers and neuropeptides, were also assessed. RESULTS Intravenous hUCB-MSC infusions were well tolerated, without serious adverse events. Improvements in the Birmingham Epidermolysis Bullosa Severity Score, body surface area involvement, blister counts, pain, pruritus, and quality of life were observed with maximal effects at 56–112 days after treatment. hUCB-MSC administration induced M2 macrophage polarization and reduced mast cell infiltration in RDEB skin. Serum levels of substance P were decreased after therapy. Increased C7 expression was observed at the dermoepidermal junction in 1 of 6 patients at day 56. CONCLUSION To the best of our knowledge, this is the first clinical trial of systemic administration of allogeneic hUCB-MSCs in patients with RDEB, demonstrating safety and transient clinical benefits. TRIAL REGISTRATION ClinicalTrials.gov NCT04520022. FUNDING This work was supported by Daewoong Pharmaceutical Co. Ltd. and Kangstem Biotech Co. Ltd.

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Section: Discussionmentioning

confidence: 99%

Intravenous allogeneic umbilical cord blood–derived mesenchymal stem cell therapy in recessive dystrophic epidermolysis bullosa patients

Lee¹,

Lee²,

Kim³

et al. 2021

JCI Insight

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“…Therefore, studies on EB patients have become more and more important over time, due to the high impact on their psycho-social life: indeed EB seems to greatly affect not only the quality of life of these patients, 4 5 but also their economic status, 14 and their related family members and care-givers' life, 15 as well as their psychological asset. 16 Nonetheless, different results have been published regarding this last aspect.…”

Section: Introductionmentioning

confidence: 99%

Pain in Patients with Dystrophic Epidermolysis Bullosa: Association with Anxiety and Depression

Fortuna

Aria

Cepeda‐Valdés³

et al. 2017

Psychiatry Investig

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ObjectiveWe investigate the presence and the quality of pain in patients with dystrophic epidermolysis bullosa (DEB), and its correlation with the level of anxiety and depression.MethodsWe collected data from 27 DEB patients and 26 healthy individuals. DEB patients and controls completed 1 scale for the quality of pain, and 1 scale for anxiety and depression. Pain was assessed with the short form of the McGill Pain Questionnaire, whereas anxiety and depression were assessed with the Hamilton rating scale for anxiety and depression.ResultsDEB patients and healthy control individuals were homogeneous for age and gender (p>0.05). A statistically significant difference in the two groups was seen for sensory pain rating scale (p<0.001), affective pain rating scale (p=0.029), total pain rating scale (p<0.001), visual analogue scale (p=0.012) and present pain intensity (p=0.001), but not for anxiety (p=0.169) and depression (p=0.530). The characteristics of pain that showed a significant difference between DEB patients and healthy controls were shooting, splitting, tender and throbbing (p<0.05). In DEB patients pain was not correlated with anxiety or depression (p>0.05), whereas a slight correlation between pain and anxiety was found in healthy controls (p<0.05). No difference was found between quality of pain and anxiety-depression in DEB patients (p>0.05), but was between the DEB dominant and the recessive form of DEB (p=0.025).ConclusionThe perception of pain in DEB patients appears greater than in healthy individuals, with splitting and tender characteristics being the most significant ones, but was not associated with anxious and/or depressive symptoms.

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“…In Epidermolysis Bullosa, the QOLEB [ 12 ] is a HR-QoL PROM for individuals, whereas the EB-BoD [ 24 ] is designed to evaluate the burden of disease upon family members. The QOLEB has been utilised in observational [ 33 – 36 ] as well as interventional studies [ 37 – 39 ]. The fabry-specific FPHPQ [ 25 ] BCCNS QoL Questionnaire (aBCCdex) [ 26 , 27 ] and Peutz-Jeagher Syndrome (PJS) Questionnaire [ 28 ] all measure HR-QOL in individuals affected by respective conditions and have not yet been utilised in published interventional studies.…”

Section: Resultsmentioning

confidence: 99%

Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation

Frew

Davidson

Murrell

2017

Orphanet J Rare Dis

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BackgroundHealth Related Quality of Life (HR-QoL) Patient reported outcome measures (PROMs) have high utility in evaluation of new interventions in genodermatoses, however inconsistent standards of development and validation have hampered widespread acceptance and adoption.ObjectivesTo identify all published HR-QoL PROMs in genodermatoses and critically evaluate their development and measurement properties.MethodsThis systematic review was registered with PROSPERO (CRD42016053301). Ovid Medline, Embase and PsycINFO databases were utilised for literature review using predefined inclusion and exclusion criteria. PROM development was assessed using the COSMIN Checklist and measurement properties were assessed against quality criteria for measurement properties of health standard questionnaires.Results15 HRQoL PROMs in genodermatoses were identified. Major areas of deficiency in development were internal consistency, reliability and structural validity. No PROM satisfied measurement property standards for agreement, responsiveness or floor and ceiling effects. Four PROMs included Minimal Important Change scores for interpretability. Issues regarding the generalisability of the evaluated PROMs in culturally diverse and paediatric populations remain unresolved.ConclusionsThe overall standards of development and measurement properties in PROMs in genodermatoses is fair, despite no single instrument meeting all requirements. None are perfectly validated according to COSMIN criteria but seven of the fifteen PROMs may be appropriate pending further validation. The development of culturally appropriate and child-specific variants of PROMs should be a priority in order to increase the utility of patient based outcome measures in genodermatoses in various patient populations.Electronic supplementary materialThe online version of this article (10.1186/s13023-017-0739-5) contains supplementary material, which is available to authorized users.

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Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa

Cited by 46 publications

References 22 publications

Intravenous allogeneic umbilical cord blood–derived mesenchymal stem cell therapy in recessive dystrophic epidermolysis bullosa patients

Intravenous allogeneic umbilical cord blood–derived mesenchymal stem cell therapy in recessive dystrophic epidermolysis bullosa patients

Pain in Patients with Dystrophic Epidermolysis Bullosa: Association with Anxiety and Depression

Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation

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