Pompe Disorder Information is strictly a information and information website in regards to the ailment. It does not give medical assistance, analysis, or treatment. This content just isn't meant to be a substitute for Skilled professional medical advice, diagnosis, or treatment.

Pompe disease is because of mutations while in the GAA gene. GAA is chargeable for producing the acid alpha-glucosidase (GAA) enzyme which is associated with breaking down a significant, sophisticated sugar molecule named glycogen.

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Disclaimer This site is strictly a news and information Web page concerning the illness. It does not supply professional medical suggestions, diagnosis or remedy. This written content just isn't meant to be described as a substitute for Expert medical advice, analysis, or therapy.

Simply because gene therapy entails altering the genetic make-up of cells, possibly by changing pompes pour l industrie a faulty gene using a healthful one particular, inactivating a malfunctioning gene, or introducing a modified gene into the body, side effects are always a likelihood.

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Early results from the initial 3 members, who acquired a relatively reduced dose of ACT-one hundred and one, confirmed the gene therapy was well tolerated and markedly improved amounts of the GAA enzyme in muscle mass cells.

Visit former slide Drop by following slide A affected person’s encounter addressing psychological wellness and Pompe disease

As the identify indicates, enzyme therapy for Pompe disorder aims to “substitute” an enzyme referred to as acid alpha-glucosidase, or GAA. This enzyme Typically breaks down a fancy sugar molecule named glycogen, which the body’s cells — In particular skeletal muscle mass cells — use to be a supply of Electrical power.

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Quite a few gene therapies are now being examined for Pompe illness. None of those investigational Pompe condition solutions have acquired regulatory acceptance up to now.



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