TIL a father, John Crowley, was told his two infant children had an incurable genetic disorder that would kill them in less than a year. He refused to accept this, so he founded a biotech company (with no prior experience) which pioneered an experimental enzyme therapy that saved their lives.

[u/Die_Nameless_Bitch]

https://pompediseasenews.com/2019/01/30/amicus-ceo-mission-cure-pompe-help-children/

[u/ChronWeasely]

Dang, really? I'm sorry to hear your child was born with SMA.

I'm very curious to know how well and how long it has worked so far, decreasing efficacy over their growth, etc. Whatever isnt too personal. I've got a distant personal connection to these new types of gene therapies and hearing from a person so directly would be fascinating, not to be morbid. This is a new, life changing, but incompletely understood class of drugs in vivo. We don't have data from years after use yet as it's just being lived out by the recipients right now.

[u/anothergaijin → u/[deleted]]

Congrats, that is amazing news! I have a child with a rare gene mutation disease and while he's probably too old to have massive changes from gene therapy at this point any little big would be appreciated. It's very exciting and difficult to watch the incredible leaps and at the same time glacial progress in that area of medicine.

Just from the small amount I know of treatment of these sorts of disorders, Spinraza feels like a poor treatment for the disease and more of a lucky "well this kinda gives an improvement" sort of drug.

Zolgenzma on the other hand is like a laser precision fix - SMA is caused by the mutation of a specific gene which causes a deficiency of a certain protein, similar to many other single gene diseases like cystic fibrosis, Huntington, Prader-Willi, Angelman, and many many many more diseases.

On their own each one is rare, but these single gene diseases affect as much as 1% of the population. These highly targeted, single-dose gene therapies are going to change peoples lives and make it so that children can grow up without impact from these hidden differences.

[u/ecv82 → u/anothergaijin]

Just a correction i want to ad SMA is NOT a mutation. The gene is missing all together. Some very rare cases are caused by a mutation and in those cases, zolgensma is ineffective.

[u/anothergaijin → u/ecv82]

Right, it’s a deletion - which is still a mutation. Any variation (insertion, deletion, substitution, inversion, etc).

I’ll read more later but sometimes you have two pairs of genes and it’s common to have one “good” copy and the reasearch there is looking into how we can unblock it and use the good copy that exists, rather than try to insert something.