I’m hopeful about the future of Sanfilippo syndrome type B

It’s been more than three years since our daughter, Liv, was diagnosed with Sanfilippo syndrome type B. And in that time, our family has raised close to half a million dollars — $452,000, to be exact — for the Cure Sanfilippo Foundation. This money goes toward research and support for families like ours. Since we’ve been fundraising, we haven’t seen any solid advancements for type B — until now.

We learned a few weeks ago that Spruce Biosciences has acquired an enzyme replacement therapy for Sanfilippo type B called TA-ERT. The biopharmaceutical company intends to seek accelerated approval of the therapy from the U.S. Food and Drug Administration, with plans to submit a Biologics License Application within about a year.

While approval is never guaranteed, we are so proud of this step in the right direction. If approved, TA-ERT could be the first treatment on the market for Sanfilippo type B. In clinical trials, it’s been administered as a weekly infusion into a child’s brain. It’s not a cure, but it could slow disease progression.

Sharing this positive news felt like a breath of fresh air. We know this rare disease world is full of uncertainty, and nothing ever happens quickly, but we remain hopeful.

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March 4, 2025 Columns by Erin Stoop

My daughter’s diagnosis with Sanfilippo syndrome type B

Holding on to hope

We knew Liv had Sanfilippo syndrome for about three weeks before we found out which type she had. At that time, there was a trial recruiting patients with type A. Even though this type is typically the most severe, I was praying that Liv had it simply so that we could have an option. When we got the call that Liv had type B, it felt like another punch to the gut. There were no options. We felt hopeless.

Liv Stoop smiles in her “Toy Story” sweater. (Photo by Erin Stoop)

As we started talking to people in this community, we heard countless times, “She’s so young! She’ll be a great candidate for a trial.” Unfortunately, we’re over three years into this diagnosis, and no trial has been available to us here in the U.S.

Now, we’re excited that instead of a trial, there could be an actual drug on the market.

We’re at a point in our Sanfilippo journey where we’re shifting from hoping that Liv will be a great trial candidate because her disease hasn’t progressed much, to realizing that she’s now “older,” has experienced considerable regression, and is less likely to benefit from therapy. It’s crushing, but it didn’t happen overnight.

I’m incredibly proud of the work done by the Cure Sanfilippo Foundation. They deserve all the credit in the world for the advances made in Sanfilippo therapy options. I am so hopeful that, one day, families who receive this fateful diagnosis will find the foundation’s website on Google, like I did, scroll to the bottom, and see something listed under “treatment options.” Something to keep that family hopeful.

For us, seeing “supportive measures only” was soul-crushing. I cannot wait for the day when a family no longer has to read those words.

Our family will continue to fundraise, even knowing Liv is now less likely to be a good candidate for a trial. We know that she has been, and will continue to be, a part of history in this space. I am so proud of the work she and our family have done, alongside our community, to make progress toward a treatment option. I am so confident there will be an approved therapy in Liv’s lifetime. Though she cannot comprehend what’s happening, I know without a doubt she’d be proud of us, too.

Note: Sanfilippo News is strictly a news and information website about the syndrome. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sanfilippo News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Sanfilippo syndrome.