Enzyme Treatment

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by Guest Posts on Mon May 09, 2022 10:49 am

Enzyme Treatment

I’d like to ask your specialists if they have any information around the progress being made with enzyme treatment for ichthyosis (replacing transglutaminase 1) and their professional opinions of such a treatment. Thank you (Camilla)
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Dr Anna Martinez
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by Dr Anna Martinez on Mon May 09, 2022 4:09 pm

Re: Enzyme Treatment

Unfortunately I am not aware of any trials certainly in children with enzyme treatment for ichthyosis

Edel O' Toole
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by Edel O' Toole on Mon May 09, 2022 4:14 pm

Re: Enzyme Treatment

A company called Krystal has developed gene therapy called KB105 for the treatment of transglutaminase (TGM1)-Deficient Autosomal Recessive Congenital Ichthyosis (ARCI/lamellar ichthyosis). KB105 uses an inactive virus which likes skin to deliver functional TGM1 genes directly to the skin in order to express the transglutaminase-1 enzyme in the skin.

https://clinicaltrials.gov/ct2/show/NCT04047732

A small number of patients have had treatment in a localised area with apparently good results and are currently being followed up to make sure there are no side effects of this treatment.

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