Botulinum toxin A injection for chronic anal fissures and anal sphincter spasm improves quality of life in recessive dystrophic epidermolysis bullosa

Chaptini, Cassandra; Casey, Genevieve; Harris, Andrew G.; Wattchow, David; Gordon, Lynne Thomas; Murrell, Dédée F.

doi:10.1016/j.ijwd.2015.08.002

Cited by 5 publications

(1 citation statement)

References 15 publications

(24 reference statements)

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“…Intradermal injections led to a reduction of pain and reduced blister numbers, lasting for < 4 months [81,82]. In a second case report, botulinum toxin was injected into the internal anal sphincter of an RDEB-patient over a 2-year period leading to relieved spasm and pain due to anal blistering, with a sustained effect lasting 4 years post treatment [83]. Following these studies, a currently recruiting intra-patient controlled trial (NCT3453632) evaluates the effect of botulinum toxin in a bigger patient cohort.…”

Section: Further Small Molecule Drugs In Currently Ongoing Clinical Tmentioning

confidence: 99%

Small molecule drug development for rare genodermatoses – evaluation of the current status in epidermolysis bullosa

Wally

Reisenberger

Kitzmüller

et al. 2020

Orphanet J Rare Dis

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Background Hereditary epidermolysis bullosa (EB) comprises a heterogeneous group of rare genodermatoses, which are caused by mutations in genes involved in the maintenance of the structural and functional integrity of dermo-epidermal adhesion in various stratified epithelia. In severe variants, generalized skin disease, extracutaneous manifestations and multi-organ involvement cause considerable morbidity and mortality. Causal and early treatment by re-expression of a respective mutated gene is the major long-term goal in therapy development. However, characterization and targeted modulation of pathogenic molecular cascades in EB also holds great promise as a symptom-relieving approach to ameliorate phenotype, complications and quality of life. Small molecules are chemical structures of less than 900 Da that can diffuse across cell membranes and interfere with target biomolecules, thus influencing their function at different levels. They constitute the vast majority of active components of all approved drugs. Methods We performed PubMed and Google Scholar search for publications and screened FDA- and EMA-hosted clinical trial registries to identify studies using small molecule-based drugs for epidermolysis bullosa. Upon detailed analysis this resulted in the identification of a total of 84 studies. Results We identified 52 publications and 32 registered trials that investigate small molecules for their safety and efficacy as treatment for different aspects of epidermolysis bullosa. Further, a total of 38 different small molecules clinically used in EB were found. Most frequent outcome measures concerned wound healing, reduction in blister numbers, as well as reduction of itch and pain, predominantly for EBS and RDEB. Conclusion We provide a comprehensive summary of the current status of clinical small molecule development for EB and discuss prospects and limitations in orphan drug development for rare conditions like EB.

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Section: Further Small Molecule Drugs In Currently Ongoing Clinical Tmentioning

confidence: 99%