Drug Repurposing Reveals mTOR Inhibition as a Promising Strategy for Epidermolysis Bullosa Simplex

Since December 2019, SARS-CoV-2 (COVID-19) has been a worldwide pandemic with enormous consequences for human health and the world economy. Remdesivir is the only drug in the world that has been approved for the treating of COVID-19. This drug, as well as vaccination, still has uncertain effectiveness. Drug repurposing could be a promising strategy how to find an appropriate molecule: rapamycin could be one of them. The authors performed a systematic literature review of available studies on the research describing rapamycin in association with COVID-19 infection. Only peer-reviewed English-written articles from the world’s acknowledged databases Web of Science, PubMed, Springer and Scopus were involved. Five articles were eventually included in the final analysis. The findings indicate that rapamycin seems to be a suitable candidate for drug repurposing. In addition, it may represent a better candidate for COVID-19 therapy than commonly tested antivirals. It is also likely that its efficiency will not be reduced by the high rate of viral RNA mutation.

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Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01896-0 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

M. Marro ◽

S. De Smet ◽

D. Caldari ◽

C. Lambe ◽

S. Leclerc-Mercier ◽

...

Keyword(s):

Intensive Care ◽

Epidermolysis Bullosa ◽

Neonatal Intensive Care ◽

Nutrition Support ◽

Epidermolysis Bullosa Simplex ◽

Withdrawal Time ◽

Multicentric Study ◽

Nasogastric Tubes ◽

Mucosal Involvement ◽

Enteral Nutrition Support

Abstract Introduction Severe epidermolysis bullosa simplex (EBS sev) is a rare genodermatosis characterized by congenital generalized blistering and mucosal involvement. Increased needs and decreased intake quickly lead to nutritional imbalance. Enteral nutrition support is proposed, but classical nasogastric tubes are not well tolerated in these patients and gastrostomy is preferred. Objective and methods To report the experience with EBS sev in neonatal units of French reference centers for gastrostomy. In this retrospective multicentric study, we included all patients with EBS sev who had gastrostomy placement before age 9 months during neonatal care hospitalization. Results Nine infants (5 males/4 females) with severe skin and mucosal involvement were included. A gastrostomy was decided, at an early age (mean 3.7 months, range 1.4 to 8 months) in infants with mean weight 4426 g (range 3500 to 6000 g). Techniques used were endoscopy with the pull technique for 5 infants and surgery under general anesthesia for 4. Main complications were local but resolved after treatment. All infants gained weight after gastrostomy. The mean withdrawal time (n = 7) for the gastrostomy was 35.8 months (range 10.5 months to 6.5 years). Seven children had persistent oral disorders. Conclusions Gastrostomy in infants with EBS sev can be necessary in neonatal intensive care units. Both surgical and endoscopic pull techniques seem efficient, with good tolerance.

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