Slc6a1 Connect

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Slc6a1 Connect Contact information, map and directions, contact form, opening hours, services, ratings, photos, videos and announcements from Slc6a1 Connect, Medical and health, 1939 Temperence Hill Drive, Frisco, TX.

We are a research-focused patient advocacy group dedicated to accelerating the development of novel therapeutic approaches for all with SLC6A1-Related Disorders, a newly identified neuro-developmental disorder, by improving the lives of those affected.

Advocacy in action in Tennessee 💜Today was a really special day for our family and for the SLC6A1 community. 💜 had the o...
10/15/2026

Advocacy in action in Tennessee 💜

Today was a really special day for our family and for the SLC6A1 community. 💜
had the opportunity to sit down with Senator Bo Watson and talk about SLC6A1, the challenges children like Cameron face every single day, and the incredible research happening right here in Tennessee at Vanderbilt.

Advocacy can often feel overwhelming, especially when you’re advocating for something so deeply personal. But today was a reminder of why we keep showing up, telling Cameron’s story, educating others, and asking people in positions to make a difference to listen.

I am incredibly grateful to Senator Watson for doing exactly that. He took the time to listen, ask questions, understand the need, and talk with us about ways to help move awareness and research efforts forward. His genuine interest, kindness, and willingness to help meant more to us than I can adequately put into words.

There is so much hope surrounding SLC6A1 research, and having leaders willing to recognize the importance of rare-disease research and help us continue building momentum is huge. Progress doesn’t happen overnight — it happens one conversation, one connection, one advocate and one step at a time.

We walked away from today’s meeting feeling incredibly encouraged and grateful. Thank you, Senator Watson, for believing that these children and families are worth fighting for and for helping us work toward a future where children like Cameron have better treatments and, ultimately, a cure. 💜

We will keep advocating. We will keep raising awareness. We will keep pushing research forward. And we will keep fighting for Cameron and every family affected by . 💜🦸‍♀️🦋

🧬 **Exciting new research for the SLC6A1 community!**A newly published study in *Molecular Genetics and Metabolism* prov...
10/12/2026

🧬 **Exciting new research for the SLC6A1 community!**

A newly published study in *Molecular Genetics and Metabolism* provides encouraging evidence that glycerol phenylbutyrate (Ravicti), a repurposed drug, may offer benefits beyond seizure control for children living with SLC6A1-related neurodevelopmental disorder.

**All three children with confirmed SLC6A1 variants achieved their individualized treatment goals**, with improvements in areas such as behavior, development, and daily functioning.

Why does this matter?

For our families, success is not measured by seizures alone. It is measured in new words, improved communication, greater independence, emotional regulation, and the ability to participate more fully in everyday life.

This small, open-label study is not proof of efficacy, but it provides important evidence supporting further clinical investigation.

At SLC6A1 Connect, our vision has always been bigger than seizure control. We want treatments that improve the whole child and change the trajectory of this disease.

Every new study brings us closer to understanding what is possible. 💜

Read the research: https://www.sciencedirect.com/science/article/pii/S1096719226005391

As a mom, I want to protect Haley in every way, including what I share about her struggles.I adore her exactly as she is...
10/09/2026

As a mom, I want to protect Haley in every way, including what I share about her struggles.

I adore her exactly as she is. But with every year that passes without a cure, I feel overwhelming guilt.

Our family is happy, praise God. But happiness doesn’t mean Haley isn’t struggling. As she gets older, the gap between her and her peers continues to widen.

Yesterday at PT, Haley was asked to stomp like an elephant while using her arm as a trunk. She could stomp, but adding the arm movement overwhelmed her. Her brain struggles to process and execute two things at once.

These challenges affect everything: getting dressed, eating, learning, friendships and independence.

Because Haley is so joyful and sweet, her needs are often overlooked.

After PT, we went grocery shopping.

“Why there carts here?”

“Why there boys and girls here?”

“Why there two trash cans?”

My 6.5-year-old desperately wants to communicate and connect. It just takes so much effort.

And then, in the car, while I was holding her hand and telling her how proud I was of her, she said:

“I so happy to be your daughter ereday.”

And suddenly, I could breathe again.

At the store, she remembered we needed pancakes and puffs. When I couldn’t find them, she repeatedly told me, “You need to ask someone!”

I was so proud of her.

I am endlessly proud of Haley, and simultaneously, I want more for her.

I want thinking to be easier. Friendships to be easier. I want her to look both ways before crossing the street, ride a bike, communicate freely, and eat and use the bathroom independently.

I want a life without seizures. An education that meets her needs. A future where she isn’t left behind because of this disease.

God, I know You hear me. I would be so, so happy with those things.

Sometimes I feel selfish wanting more when we are surrounded by so much love. I know other families face even greater struggles, and I want more for them, too.

But as Haley’s mom, her best friend and her lifetime caregiver, I will never stop wanting more for her.

I love her exactly as she is. And I want a cure for everything this disease takes from her.

Both things can be true. 🤍

This is what we want for SLC6A1.The FDA has approved the first gene therapy for children with Sanfilippo syndrome type A...
10/07/2026

This is what we want for SLC6A1.

The FDA has approved the first gene therapy for children with Sanfilippo syndrome type A, another devastating neurodevelopmental disease.

When SLC6A1 Connect began, there was no roadmap, no treatment and no clinical trial. So we started building.

Today, we have natural history data, patient registries, a repurposed drug program, an active gene therapy clinical trial and additional therapeutic approaches moving forward.

But reaching the clinic was never the finish line.

Our vision is **FDA-approved treatments and access for every SLC6A1 patient who could benefit.** We are building multiple paths because no single treatment will be the answer for everyone.

Congratulations to the Sanfilippo community. Your milestone gives hope to rare disease communities everywhere.

For SLC6A1, we keep going.


https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-pediatric-patients-sanfilippo-syndrome-type

10/06/2026

Rare disease families manage medical records, specialists, medications, insurance, research, clinical trials—and about 100 things we’re terrified we might forget.

This is exactly where AI should help.

Ari from Citizen Health is an AI teammate built specifically for rare disease patients and caregivers, helping families make sense of medical records, prepare for appointments, navigate insurance, and manage the enormous administrative burden of complex disease.

AI won’t replace doctors or advocates. But it can give rare disease families something incredibly valuable: more capacity.

This is the kind of AI innovation I want to see in rare disease. 🧬

Nasha FitterCitizen Health

10/05/2026

🇪🇸🧬 **A major milestone for the SLC6A1 community: SPIRIT is underway.**

Spain has become the **first country to initiate SPIRIT**, UCB’s international SLC6A1 natural history study.

This is more than a study milestone. It is another important step toward treatments for SLC6A1.

Natural history data are critical to understanding how SLC6A1 changes over time, identifying meaningful clinical outcomes, and designing and evaluating future clinical trials. Every family who participates helps build the foundation for the therapies we are all working toward.

🌍 SPIRIT is planned across **Spain, Denmark, France, Germany, Italy, the United Kingdom, and the United States**—and Spain has taken the first step. 🇪🇸

Our sincere thanks to Instituto Neuralma – Hospital Blua Sanitas Valdebebas, Dr. Angel Aledo-Serrano and the entire clinical team for their commitment to our families and research, and to UCB for investing in the science needed to move SLC6A1 drug development forward.

Most importantly, thank you to **Micaela and her family**, and to every SLC6A1 family who participates in research. None of this progress happens without you.

💜 SLC6A1 Spain, SLC6A1 Europe, and SLC6A1 Connect share one goal: **turning research into meaningful treatments for people living with SLC6A1.**

Every participant moves us one step closer.

Backpack. Tote. Keys. Gym bag.The SLC6A1 bag charm is hand-strung on a gold lobster clasp, so it moves from bag to bag i...
10/02/2026

Backpack. Tote. Keys. Gym bag.

The SLC6A1 bag charm is hand-strung on a gold lobster clasp, so it moves from bag to bag in a second.

Request yours — link in bio.

Wear it. Share it. Tag us. Start conversations.

https://donate.slc6a1connect.org/event/rare-swag/e704520

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1939 Temperence Hill Drive
Frisco, TX
75034

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