Epidermolysis Bullosa (EB) is a rare genetic disorder that causes extreme skin fragility and blistering in patients, significantly impacting their quality of life. EB can be classified into various subtypes, each with a unique genetic profile and diverse physical symptoms. Due to the heterogeneous inheritance patterns of EB, a cure remains yet to be found. However, various symptomatic treatments have been developed and continue to be developed to relieve pain and itching for patients and improve their quality of life. These treatments can be divided into topical treatments, some of which have undergone clinical trials, and systemic treatments, which target the upregulation of inflammatory pathways. Potential curative treatments in development for EB include gene replacement therapy, gene editing therapy, RNA-based therapy, revertant mosaicism, cell-based therapy, protein therapy, and protein codon read-through. Recent advancements in gene therapy and stem cell therapy show promise for a cure for EB in the future. Stem cell therapies utilizing umbilical cord blood-derived mesenchymal stem cells or dermal mesenchymal stromal cells, among others, have shown potential in clinical trials, but further research is required before they can be implemented in a clinical setting. On the other hand, B-VEC, a topical gene therapy, and EB-101, an autologous ex-vivo gene therapy, have undergone more extensive research and are awaiting FDA approval. The ongoing research and development of these therapeutic modalities provide hope that a cure will soon be found for this devastating disease.
| Identifer | oai:union.ndltd.org:bu.edu/oai:open.bu.edu:2144/48298 |
| Date | 01 March 2024 |
| Creators | Magesh, Rayna |
| Contributors | Wisco, Jonathan, Rahimi, Nader |
| Source Sets | Boston University |
| Language | en_US |
| Detected Language | English |
| Type | Thesis/Dissertation |
| Rights | Attribution 4.0 International, http://creativecommons.org/licenses/by/4.0/ |
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