Epidermolysis bullosa dystrophica

debra of America Raises $600,000 at Annual Benefit; Honors Trailblazers in Epidermolysis Bullosa Community

Retrieved on: 
Friday, November 10, 2023

Funds raised help advance EB research initiatives and directly support families and individuals living with EB.

Key Points: 
  • Funds raised help advance EB research initiatives and directly support families and individuals living with EB.
  • At the benefit, debra honored several EB trailblazers for their research and therapeutic contributions as well as individuals living with the disease.
  • Krystal Biotech was recognized for its work in developing VYJUVEK™ (beremagene geperpavec-svdt), the first FDA-approved treatment of Dystrophic Epidermolysis Bullosa (DEB).
  • Epidermolysis Bullosa is a rare genetic disorder characterized by fragile skin that easily blisters or forms painful sores from minor friction or trauma.

Orsini Specialty Pharmacy Selected as part of the Limited Specialty Pharmacy Network For VYJUVEK™, the First Gene Therapy for the Treatment of Dystrophic Epidermolysis Bullosa

Retrieved on: 
Tuesday, May 23, 2023

ELK GROVE VILLAGE, Ill., May 23, 2023 /PRNewswire/ -- Orsini Specialty Pharmacy, a leading independent specialty pharmacy focused on rare diseases and gene therapies, announced today that Krystal Biotech has selected it as part of the limited specialty pharmacy network for VYJUVEK™ (beremagene geperpavec-svdt), a topical gene therapy for the treatment of Dystrophic Epidermolysis Bullosa (DEB).

Key Points: 
  • ELK GROVE VILLAGE, Ill., May 23, 2023 /PRNewswire/ -- Orsini Specialty Pharmacy, a leading independent specialty pharmacy focused on rare diseases and gene therapies, announced today that Krystal Biotech has selected it as part of the limited specialty pharmacy network for VYJUVEK™ (beremagene geperpavec-svdt), a topical gene therapy for the treatment of Dystrophic Epidermolysis Bullosa (DEB).
  • For more information about VYJUVEK, see the Full Prescribing Information or https://vyjuvek.com .
  • DEB is caused by mutations in the COL7A1 gene that affects the skin and mucosal tissues.
  • "Orsini Specialty Pharmacy is deeply committed to helping DEB patients and their families gain access to this revolutionary treatment and provide ongoing support in managing their condition."

Eloxx Pharmaceuticals Announces FDA Clearance to Begin Single Ascending Dose Study of ZKN-013

Retrieved on: 
Tuesday, May 2, 2023

WATERTOWN, Mass., May 02, 2023 (GLOBE NEWSWIRE) -- Eloxx Pharmaceuticals, Inc. (NASDAQ: ELOX) (“Eloxx” or the “Company”), a leader in ribosomal RNA-targeted genetic therapies for rare diseases, today announced that the U.S. Food and Drug Administration (FDA) has cleared the Company’s Investigational New Drug (IND) application to initiate a single ascending dose (SAD) clinical trial in healthy volunteers for ZKN-013 for the potential treatment of recessive Dystrophic Epidermolysis Bullosa (RDEB) with nonsense mutations. RDEB is a rare skin disease characterized by mutations in Collagen7 gene.

Key Points: 
  • RDEB is a rare skin disease characterized by mutations in Collagen7 gene.
  • “FDA clearance to begin our planned single ascending dose trial is an important milestone towards providing a potential treatment option for patients with RDEB and JEB,” said Sumit Aggarwal, President and Chief Executive Officer of Eloxx.
  • The MAD testing could potentially include RDEB patients given the strong benefit/risk in patients cited by the FDA.
  • In January 2023, Eloxx published its preclinical results that showed treatment with ZKN-013 demonstrated a decrease in intestinal polyps and adenomas, resulting in increased survival.

Eloxx Pharmaceuticals Reports Fourth Quarter 2022 Financial and Operating Results and Provides Business Update

Retrieved on: 
Monday, April 3, 2023

WATERTOWN, Mass., April 03, 2023 (GLOBE NEWSWIRE) -- Eloxx Pharmaceuticals, Inc. (NASDAQ: ELOX), a leader in ribosomal RNA-targeted genetic therapies for rare diseases, today reported its financial results for the three months ended December 31, 2022 and provided a business update.

Key Points: 
  • Alport syndrome is a rare genetic disorder characterized by kidney disease with high levels of proteinuria, hearing loss and eye abnormalities.
  • Eloxx presented a poster highlighting the activity of ELX-02 across a range of COL4A5 mutations in preclinical models at the American Society of Nephrology (ASN) Kidney Week 2022 Conference in early November 2022.
  • Recent preclinical results demonstrated read-through activity of ZKN-013 in multiple COL7 genotypes across multiple RDEB patient derived fibroblasts and keratinocytes.
  • R&D expenses were $3.3 million for the three months ended December 31, 2022, which includes $0.3 million in stock-based compensation.

Eloxx Pharmaceuticals Announces Submission of Investigational New Drug (IND) Application for ZKN-013

Retrieved on: 
Tuesday, March 28, 2023

WATERTOWN, Mass., March 28, 2023 (GLOBE NEWSWIRE) -- Eloxx Pharmaceuticals, Inc. (NASDAQ: ELOX), a leader in ribosomal RNA-targeted genetic therapies for rare diseases, today announced the submission of an Investigational New Drug (IND) application with the U.S. Food and Drug Administration for ZKN-013 for the treatment of recessive Dystrophic Epidermolysis Bullosa (RDEB) with nonsense mutations. RDEB is a rare skin disease characterized by mutations in Collagen7 gene.

Key Points: 
  • “This IND application is an important milestone towards providing a treatment option for patients with RDEB and JEB, as there are currently no approved disease-modifying treatments,” said Sumit Aggarwal, President and Chief Executive Officer of Eloxx.
  • FAP, a rare inherited disease with no approved drug therapies, is characterized by proliferation of colon polyps.
  • Eloxx is targeting a subset of patients that have nonsense mutations in the Adenomatous Polyposis Coli (APC) gene that is truncated in these patients.
  • In January 2023, Eloxx published positive results from a study in the APCMin (multiple intestinal neoplasia) model evaluating the potential of ZKN-013 to treat FAP.

Dystrophic Epidermolysis Bullosa Drug Pipeline Analysis Report 2022: Comprehensive Insights About 15+ Companies and 15+ Pipeline Drugs - ResearchAndMarkets.com

Retrieved on: 
Monday, December 19, 2022

This report provides comprehensive insights about 15+ companies and 15+ pipeline drugs in Dystrophic Epidermolysis Bullosa pipeline landscape.

Key Points: 
  • This report provides comprehensive insights about 15+ companies and 15+ pipeline drugs in Dystrophic Epidermolysis Bullosa pipeline landscape.
  • The assessment part of the report embraces, in depth Dystrophic Epidermolysis Bullosa commercial assessment and clinical assessment of the pipeline products under development.
  • This segment of the Dystrophic Epidermolysis Bullosa report encloses its detailed analysis of various drugs in different stages of clinical development, including phase II, I, preclinical and Discovery.
  • Our in-depth analysis of the pipeline assets (in early-stage, mid-stage and late stage of development for the treatment of Dystrophic Epidermolysis Bullosa) includes therapeutic assessment and comparative analysis.

New England Journal of Medicine Publishes Phase 3 Data on B-VEC in Patients with Dystrophic Epidermolysis Bullosa

Retrieved on: 
Wednesday, December 14, 2022

The full manuscript, titled “Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa,” will appear in the December 15, 2022 issue of the NEJM.

Key Points: 
  • The full manuscript, titled “Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa,” will appear in the December 15, 2022 issue of the NEJM.
  • The GEM-3 trial was a randomized, double-blind, intra-patient placebo-controlled multi-center trial designed to evaluate the efficacy and safety of B-VEC for the treatment of DEB.
  • In the trial, matched wounds receiving topical B-VEC or placebo were evaluated in 31 DEB patients over 26 weeks.
  • Krystal Biotech, Inc. (NASDAQ: KRYS) is a biotechnology company focused on developing and commercializing genetic medicines for patients with rare diseases.

Abeona Therapeutics Announces Positive Topline Results with Both Co-Primary Endpoints Met in Pivotal Phase 3 VIITAL™ Study of EB-101

Retrieved on: 
Thursday, November 3, 2022

Abeona anticipates submitting results from this study, including further details with additional exploratory endpoints and the Week 12 results, for presentation at future medical meetings and for publication in a peer-reviewed journal.

Key Points: 
  • Abeona anticipates submitting results from this study, including further details with additional exploratory endpoints and the Week 12 results, for presentation at future medical meetings and for publication in a peer-reviewed journal.
  • The Week 12 results are similar to Week 24 results, achieving statistical significance for pain reduction and wound healing at all levels.
  • In the Phase 3 VIITAL study, EB-101 has been shown to both heal such large chronic wounds and significantly reduce pain.
  • Abeona Therapeutics will host a conference call and webcast on Thursday, November 3, 2022, at 8:30 a.m. EDT, to discuss the positive topline results from the VIITAL study.

Abeona Therapeutics Announces Database Lock for Pivotal Phase 3 VIITAL™ Study of EB-101 in Patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Retrieved on: 
Wednesday, October 19, 2022

NEW YORK and CLEVELAND, Oct. 19, 2022 (GLOBE NEWSWIRE) -- Abeona Therapeutics Inc. (Nasdaq: ABEO) today announced the database lock on October 18, 2022 for the pivotal Phase 3 VIITAL study of its investigational autologous, engineered cell therapy, EB-101, in patients with recessive dystrophic epidermolysis bullosa (RDEB).

Key Points: 
  • NEW YORK and CLEVELAND, Oct. 19, 2022 (GLOBE NEWSWIRE) -- Abeona Therapeutics Inc. (Nasdaq: ABEO) today announced the database lock on October 18, 2022 for the pivotal Phase 3 VIITAL study of its investigational autologous, engineered cell therapy, EB-101, in patients with recessive dystrophic epidermolysis bullosa (RDEB).
  • EB-101 is an autologous, engineered cell therapy currently being investigated in Abeonas pivotal Phase 3 VIITAL study for the treatment of recessive dystrophic epidermolysis bullosa (RDEB), a rare connective tissue disorder without an approved therapy.
  • Abeona produces EB-101 for the VIITAL study at its fully integrated gene and cell therapy manufacturing facility in Cleveland, Ohio.
  • Abeonas lead clinical program is EB-101, its investigational autologous, engineered cell therapy for recessive dystrophic epidermolysis bullosa is in Phase 3 development.

Abeona Therapeutics Announces Completion of Patient Follow-up in Pivotal Phase 3 VIITAL™ Study of EB-101 in Patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Retrieved on: 
Tuesday, October 4, 2022

We thank the patients, their families, and the clinical investigators, and plan to report topline results from this pivotal study within the next month.

Key Points: 
  • We thank the patients, their families, and the clinical investigators, and plan to report topline results from this pivotal study within the next month.
  • EB-101 is an autologous, engineered cell therapy currently being investigated in Abeonas pivotal Phase 3 VIITAL study for the treatment of recessive dystrophic epidermolysis bullosa (RDEB), a rare connective tissue disorder without an approved therapy.
  • Abeona produces EB-101 for the VIITAL study at its fully integrated gene and cell therapy manufacturing facility in Cleveland, Ohio.
  • Abeonas lead clinical program is EB-101, its investigational autologous, engineered cell therapy for recessive dystrophic epidermolysis bullosa is in Phase 3 development.