Sanfilippo syndrome

We produced a report last year.

We put together a collaborative network of partners, family members, So we're talking about conditions like Bann's disease, San Filippo syndrome, Neiman's Picks C, and these conditions are often very rare and it might be that there's only a handful of children in the whole of the UK who've got those conditions.

But they are exactly the same as dementia in an adult or an older person in that they share the same trajectory.

They're progressive and they're terminal.

Now, let's talk about FDA approvals.

Number one, Ultragenyx wins approval for Fayvu, first ever treatment for Sanfilippo syndrome.

Number two, FDA approves AbbVie's Juvmo for Parkinson's disease.

Number three, Mirum Pharma wins FDA nod for ATBRIOS, which is for fibrodysplasia ossificans progressiva.

Now, let's get into it.

The FDA has approved the first ever gene therapy for Sanfilippo syndrome type A.

The therapy, called FeUV, is developed by Ultragenyx.

It is the first approved treatment of any kind for these kids.

But, but people do really put the, the best interest of the patient ahead of sometimes, uh, even commercial benefit.

You saw that with Abeona, for example, which did not have the resources To put forward its MPS III program and, and ended up giving that, or essentially selling it to, to Ultragenyx because they knew that, that they could probably take it forward economically and from a resource standpoint when, when Aveona couldn't.

So, so that's wonderful.

But, you know, from a return on investment standpoint, Josh, you, you bring up an interesting point, which is that we, we haven't seen, uh, rare disease kind of take off in terms of an opportunity.

I love when we can talk about happy things for a very, very hard patient population or a patient population that struggles with a very, very hard disease.

So late last week, UltraZenix got FDA approval for its gene therapy for Sanfilippo syndrome.

This is a rare fatal genetic brain disease disease.

often called childhood Alzheimer's.

But sandwiched in between those was a painful failure in Angelman syndrome, which is another brutal genetic disease.

This same Filippo one, you know, I spoke with CEO Emil Kakas yesterday and he said this one is really special to him.

He's been to tons of meetings where He's had an opportunity to meet kids with Sanfilippo and their families.

He told me about one young patient who was treated when she was five.

This acquisition could revolutionize oncology treatment protocols, providing more precise diagnostic and therapeutic options for patients.

In another significant development, Ultragenyx has secured FDA approval for Fayvu, marking the first-ever gene therapy for Sanfilippo syndrome type A.

This devastating neurodegenerative condition previously had no effective treatment.

Gene therapies like Fayvu represent a paradigm shift in addressing genetic disorders by tackling root causes at the molecular level rather than merely alleviating symptoms.

The biggest story is a regulatory win.

The FDA approved a drug called FiUV, made by Ultragenyx, as the first-ever treatment for San Filippo syndrome type A, an ultra-rare and honestly devastating childhood neurodegenerative disease that's sometimes described as childhood Alzheimer's.

It affects somewhere between 3,000 and 5,000 patients worldwide.

FiUV is a one-time gene therapy that delivers a working copy of the gene these children are missing.