EE395 Economic Burden and Cost Drivers of Dystrophic Epidermolysis Bullosa: A Systematic Literature Review
This study aims to investigate the economic burden and the cost drivers associated with DEB. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: A. Bodke, C. Knott, O. Crossley, E. Samuels, M. Tang Source Type: research
EE553 An Exploratory Study Assessing the Utility Impact in Second Informal Carers of Patients With Epidermolysis Bullosa
The quantification of carer utility impacts in cost effectiveness analyses (CEA) has become prominent in recent years, especially in rare diseases. However, there is a lack of precedent for valuing utilities where more than one informal carer is involved. Epidermolysis bullosa (EB) is a rare, genetic skin disease affecting children and adults where more than one family member is typically involved in the care of the patient. A time trade-off study, previously conducted in the UK general public to inform health state utility values for both patients and primary carers, was used in CEA for a novel EB treatment, developed for...
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: T. Snell, L. Stainer, C. Mather, S. Hussain, E. Low, K. Tolley Source Type: research
Highly Efficient Ex Vivo Correction of COL7A1 through Ribonucleoprotein-Based CRISPR/Cas9 and Homology-Directed Repair to Treat Recessive Dystrophic Epidermolysis Bullosa
In this study, we achieved highly efficient COL7A1 editing in primary RDEB keratinocytes and fibroblasts from 2 patients homozygous for the c.6508C>T (p.Gln2170 ∗) variant through CRISPR/Cas9-mediated homology-directed repair. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - December 1, 2023 Category: Dermatology Authors: Camille Berthault, Sonia Gaucher, Olivier Gouin, Alain Schmitt, Mei Chen, David Woodley, Matthias Titeux, Alain Hovnanian, Araksya Izmiryan Tags: Original Article Source Type: research
Attenuated Replication-Competent Herpes Simplex Virus Expressing an ECM-Modifying Transgene Hyaluronan Synthase 2 of Naked Mole Rat in Oncolytic Gene Therapy
Microorganisms. 2023 Oct 29;11(11):2657. doi: 10.3390/microorganisms11112657.ABSTRACTHerpes simplex virus (HSV) has proven successful in treating human cancer. Since the approval of talimogene laherparepvec (T-VEC) in 2015, HSV has been thoroughly researched to discover novel mechanisms to combat cancer and treat other diseases. Another HSV-based drug, beremagene geperpavec (B-VEC), received approval in 2023 to treat the rare genetic disease dystrophic epidermolysis bullosa, and was also the first clinically approved HSV vector carrying an extracellular matrix (ECM)-modifying transgene. The ECM is a network of macromolecul...
Source: Herpes - November 25, 2023 Category: Infectious Diseases Authors: Jussi Palom äki Kiira Kalke Julius Orpana Liisa Lund Fanny Frejborg Henrik Paavilainen Hannu J ärveläinen Veijo Hukkanen Source Type: research
Attenuated Replication-Competent Herpes Simplex Virus Expressing an ECM-Modifying Transgene Hyaluronan Synthase 2 of Naked Mole Rat in Oncolytic Gene Therapy
Microorganisms. 2023 Oct 29;11(11):2657. doi: 10.3390/microorganisms11112657.ABSTRACTHerpes simplex virus (HSV) has proven successful in treating human cancer. Since the approval of talimogene laherparepvec (T-VEC) in 2015, HSV has been thoroughly researched to discover novel mechanisms to combat cancer and treat other diseases. Another HSV-based drug, beremagene geperpavec (B-VEC), received approval in 2023 to treat the rare genetic disease dystrophic epidermolysis bullosa, and was also the first clinically approved HSV vector carrying an extracellular matrix (ECM)-modifying transgene. The ECM is a network of macromolecul...
Source: Herpes - November 25, 2023 Category: Infectious Diseases Authors: Jussi Palom äki Kiira Kalke Julius Orpana Liisa Lund Fanny Frejborg Henrik Paavilainen Hannu J ärveläinen Veijo Hukkanen Source Type: research
Epidermal or dermal collagen VII is sufficient for skin integrity – insights to anchoring fibril homeostasis
Collagen VII forms anchoring fibrils that are essential for the stability of the skin and other epithelial organs. In addition to such structural functions, it is emerging that collagen VII fills instructive functions. Collagen VII is synthesized by both epithelial cells and fibroblasts. Genetic loss of collagen VII causes dystrophic epidermolysis bullosa (DEB), which manifests with chronic skin fragility and fibrosis. Significant progress has been made on developing therapies for DEB, however, such work has also raised questions on the importance of the cellular source of collagen VII for maintenance of tissue integrity a...
Source: Journal of Investigative Dermatology - November 23, 2023 Category: Dermatology Authors: Gregor Conradt, Ingrid Hau ßer-Siller, Alexander Nyström Tags: Original Article Source Type: research
Epidermal or Dermal Collagen VII Is Sufficient for Skin Integrity: Insights to Anchoring Fibril Homeostasis
Collagen VII forms anchoring fibrils that are essential for the stability of the skin and other epithelial organs. In addition to such structural functions, it is emerging that collagen VII fills instructive functions. Collagen VII is synthesized by both epithelial cells and fibroblasts. Genetic loss of collagen VII causes dystrophic epidermolysis bullosa, which manifests with chronic skin fragility and fibrosis. Significant progress has been made in developing therapies for dystrophic epidermolysis bullosa; however, such work has also raised questions on the importance of the cellular source of collagen VII for maintenanc...
Source: Journal of Investigative Dermatology - November 23, 2023 Category: Dermatology Authors: Gregor Conradt, Ingrid Hausser, Alexander Nystr öm Tags: Original Article Source Type: research
A case of junctional epidermolysis bullosa intermediate with collagen XVII deficiency treated with dupilumab
We describe a case of junctional epidermolysis bullosa that improved with dupilumab.PMID:37968922 | DOI:10.1080/09546634.2023.2253943 (Source: Journal of Dermatological Treatment)
Source: Journal of Dermatological Treatment - November 16, 2023 Category: Dermatology Authors: Li Zhang Shangshang Wang Qinyi Chen Leihong Xiang Source Type: research
The novel application of syringe needle in recessive dystrophic epidermolysis bullosa syndactyly release surgery
(Source: Journal of the American Academy of Dermatology)
Source: Journal of the American Academy of Dermatology - November 15, 2023 Category: Dermatology Authors: Chenglong Wu, Wenqing Zhang, Kaili Zhou, Xue Zhang, Dan Deng Source Type: research
Beremagene geperpavec (B-VEC) gene therapy for the treatment of cutaneous wounds in patients with dystrophic epidermolysis bullosa: a critical appraisal
Br J Dermatol. 2023 Nov 4:ljad433. doi: 10.1093/bjd/ljad433. Online ahead of print.NO ABSTRACTPMID:37936299 | DOI:10.1093/bjd/ljad433 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - November 8, 2023 Category: Dermatology Authors: Brent J Doolan John A McGrath Jemima E Mellerio Source Type: research
Beremagene geperpavec (B-VEC) gene therapy for the treatment of cutaneous wounds in patients with dystrophic epidermolysis bullosa: a critical appraisal
Br J Dermatol. 2023 Nov 4:ljad433. doi: 10.1093/bjd/ljad433. Online ahead of print.NO ABSTRACTPMID:37936299 | DOI:10.1093/bjd/ljad433 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - November 8, 2023 Category: Dermatology Authors: Brent J Doolan John A McGrath Jemima E Mellerio Source Type: research
A case report of jejunum transplantation in the treatment of severe cervical esophageal stricture in patients with dystrophic epidermolysis bullosa
Epidermolysis bullosa (EB) is a rare disorder caused by autosomal genetic variation. Its main clinical features include skin and mucous membrane blisters, erosion, repeated ulcers and scar formation. The lesions mostly involve the skin, oral cavity, digestive system and urinary system. Epidermolysis bullosa complicated with esophageal stenosis is a common gastrointestinal manifestation of this disorder. Currently, there is no cure for EB, and thus symptomatic treatment is usually applied. Here we describe the case of a patient with recessive dystrophic EB complicated with severe esophageal stenosis. The narrow segment of e...
Source: Frontiers in Oncology - November 6, 2023 Category: Cancer & Oncology Source Type: research
