Research
Research priorities and progress
Research priorities
- Improve knowledge about genetics and biology of all types of Epidermolysis bullosa, since a better understanding can bring us closer to new diagnoses and treatments’ discovery.
- Understand the nature of wound healing and skin cancer in Epidermolysis bullosa, and investigate the development of better treatment and prevention strategies.
- Work on the development of therapies, including potential gene, cell, protein or pharmacological therapies.
- Support clinical care research to improve disease management through symptom relief.
Research progress
These are all the countries in which the research is being carried out
Major advances in the world
Currently, there are 121 clinical trials focused on EB, compared to more than 17,000 dedicated to the study of a more common pathology, such as diabetes.
VYJUVEK (B-VEC)
New gene therapy for recessive dystrophic EB
FILSUVEZ (OLEOGEL)
First treatment indicated for dystrophic and junctional EB.
Major advances in Spain
The Spanish research group from the CIEMAT, led by Dr Larcher and Dra del Río, have made an enormous contribution to advancing the basic knowledge of EB, as well as the development of new treatments. Here some of his many contributions:
- From 2007 to 2020 they carried out the genetic diagnosis of almost 300 families with Butterfly Skin in Spain.
- In the last 20 years they have published more than 50 scientific articles.
- They have promoted and collaborated in clinical trials such as the MesenSistem-EB, already completed, together with the clinical staff of the Hospital Universitario La Paz. MesenSistem-EB was financed, in part, by DEBRA Spain
Molecular strategy: CRISPR/Cas9
They have developed a molecular strategy using CRISPR-Cas9 to edit the exon 80 of the COL7A1 gene in RDEB patient cells. The efficacy was over 80% of the pool of cells which afterwards were used to create new and functional skin.
Advances and research in Reference Hospitals
MesenSistem-EB clinical trial was carried out at Hospital Universitario La Paz together with the CIEMAT research group. 9 patients were treated with 3 mesenchymal stem cells infusions in a Phase I/II clinical trial to test their safety and efficacy.
4 Hospitals in Spain were part of the Phase III clinical trial to test the efficacy of OLEOGEL-S10. The results showed efficacy on the wound healing of patients with EB. The European Medicine Agency (EMA) approved this treatment on 2022.
A compassionate use of gentamicin treatment was performed in Hospital Universitario La Paz. The person who was treated suffers from a rare simplex EB which causes muscular dystrophy. The treatment showed good results in her skin and her respiratory and muscular capacity.
Recientemente, se ha llevado a cabo en el Hospital Universitario La Paz un tratamiento compasivo con gentamicina intravenosa en una paciente con EB simple con distrofia muscular, con buenos resultados en cuanto a mejoría cutánea, respiratoria y muscular.
Further information
If you need further information, you can contact Núria Tarrats, our researcher, via e-mail: investigacion@debra.es. Do you want more details about EB? You can find further information in this link: https://www.share4rare.org/