Durham, NC — April 15, 2025 — The National MPS Society welcomes the news that Spruce Biosciences is now leading the development of the TA-ERT program (formerly AX 250), bringing renewed hope and momentum to the MPS IIIB (Sanfilippo) community.
Spruce Biosciences has made clear its intention to move swiftly and responsibly, acknowledging the long-standing advocacy and involvement of families, researchers, and clinicians. The company recognizes the challenges and uncertainty caused by the previous pause in development and is committed to rebuilding trust through open, consistent engagement.
“We are encouraged and deeply grateful to see Spruce Biosciences advancing the TA-ERT program for individuals living with MPS IIIB, also known as Sanfilippo Syndrome,” said National MPS Society President & CEO Terri Klein. “This marks an important step forward in addressing an urgent, unmet need for this patient community, and we commend the renewed commitment to those impacted by MPS IIIB. The National MPS Society remains hopeful and supportive as this promising therapy moves toward clinical development and, ultimately, to the families who are waiting.”
Manufacturing of TA-ERT has resumed to ensure the availability of products, and plans have been made to pursue accelerated approval in the U.S., initiate a registrational clinical study, and expand global early access opportunities by early 2026.
Community partnership is a central pillar of Spruce Bioscience’s approach. A dedicated Patient Engagement function has been established, and additional opportunities for communication, feedback, and collaboration will be available to the patient community.
The National MPS Society is encouraged by Spruce Biosciences’ renewed dedication to this program, and we look forward to continuing to work together on behalf of families living with MPS III.
To read Spruce Bioscience’s full statement, please click here.
In 2020, in the quiet hum of a hospital NICU, Lauryn and her husband began a journey no parent ever anticipates. Their newborn daughter, Blakely Mae, had just been diagnosed with Mucolipidosis (ML) Type II, a rare and devastating genetic disorder. In that moment, their world shifted—ushering them into the role of “rare parents.”
“In the midst of overwhelming emotions, uncertainty, and grief, we made a choice to live each day with love,” Lauryn recalled. “And to pack a lifetime of love into the short time we had with Blakely.”
And that’s exactly what they did. Blakely’s life, though heartbreakingly brief, was radiant. She lived just two and a half years, but every moment was saturated with affection, tenderness, and joy.
The loss of Blakely was shattering. “To say we were devastated is an understatement,” Lauryn shared. “We would have moved mountains to heal her. But now, we’re trying to find purpose in the pain.”
Since Blakely’s passing, Lauryn and her family have been committed to honoring Blakely’s memory by raising awareness for ML and advocating for other children facing rare diseases. “Every day, we honor her name, her spirit, and the other rare children who still need a cure.”
Blakely Mae may have only been here for a short time, but her impact endures—a testament to the powerful love of her family and the joy she brought to all who knew her.
“We miss you more than words can express, Blakely Mae,” said Lauryn. “You are forever in our hearts.”
The National MPS Society expresses deep appreciation and concern following the announcement that Dr. Peter Marks will resign from his role as Director of the U.S. Food and Drug Administration’s Center for Biologics Evaluation and Research (CBER). In a letter to the FDA Dr. Marks stated that his departure will be effective April 5, 2025.
This leadership change is a significant loss for the rare disease and MPS communities, and it comes as a significant blow to all who rely on stable, expert-driven regulatory oversight. Dr. Marks has been an invaluable champion for patients with Mucopolysaccharidoses (MPS), and his resignation leaves a profound void in the effort to develop and approve life-saving therapies for rare diseases.
During his nine-year tenure leading CBER, Dr. Marks oversaw the approval of 22 novel gene and cell therapies – groundbreaking treatments that have brought hope to families facing conditions once thought untreatable.
Dr. Marks’ personal commitment to the MPS community was evident in his direct engagement with patients and families. He delivered a keynote address at the National MPS Society’s 37th Annual Family Conference in 2023 in a session aptly titled “Addressing the Unmet Needs of the Rare Disease Community.” At this event, Dr. Marks spoke candidly and empathetically about the challenges of developing therapies for ultra-rare diseases. He exhibited a deep understanding of and sympathy towards MPS families in his comments during the panel session.
By taking the time to engage at the conference, Dr. Marks demonstrated extraordinary commitment to those living with MPS, reinforcing the principle that patients and caregivers must be partners in the drug development process. He recognized that the voices of patients and their families are central to regulatory decisions, and worked relentlessly to ensure those voices informed and shaped the path of drug development. His leadership fostered innovative gene therapy programs while instilling a culture of compassion in the regulatory process, directly benefiting the MPS community and beyond.
Moving Forward – Protecting Progress and Calling for Continued Leadership:
Dr. Marks’ resignation comes at a pivotal moment for rare disease research and regulation. The National MPS Society reaffirms our commitment to protect the progress we have found so hard to achieve in rare disease drug development. We will continue to work tirelessly with policymakers, regulators, and industry partners to ensure that the momentum in developing therapies for MPS and ML remains uninterrupted.
Our community cannot afford delays or disruptions. We urge the FDA and the Administration to maintain strong, experienced leadership at the Agency to support the needs of patients with rare diseases, and we stand ready to collaborate with FDA leadership to sustain the uninterrupted momentum in rare disease therapy development so that the innovative treatments on the horizon become realities for the families who need them the most.
About the National MPS Society
Founded in 1974, the National MPS Society is a 501(c)3 non-profit organization dedicated to supporting individuals and families affected by Mucopolysaccharidoses and Mucolipidoses. The Society’s mission is to advance research for cures, provide advocacy and support, and promote awareness of these devastating, progressive diseases.
Contact: Terri Klein, President and CEO
terri@mpssociety.org
“In 2018, our family welcomed our youngest daughter, Raelin, into the world. From the moment she was born, we were completely in love. She lit up our lives with her spunky personality andbeautiful red hair. Despite some early developmental concerns, Raelin seemed to be progressing well as an infant. However, as she grew into toddlerhood, we began noticing increasing developmental delays. We also discovered that she was losing her hearing.
What initially seemed like a slightly delayed speech soon began to regress rapidly. Doctors and specialists were unable to provide a clear explanation for her symptoms. Eventually, she was diagnosed with autism, but to us, it felt like an incomplete answer. She underwent a chromosomal microarray genetic test, which came back normal. As newcomers to the world of genetic testing, we didn’t realize that this particular test wouldn’t screen for MPS III.
Finally, a neurologist at Phoenix Children’s Hospital ordered a full genetic sequencing test. At age six, we received the devastating diagnosis: Raelin had MPS III, also known as Sanfilippo Syndrome.
Through this journey, we have learned to cherish the invaluable gifts of hope and time. Hope for a cure. Hope for a treatment. Time together as a family. Time with Raelin. While this disease is fatal, and we watch as she loses a little more of her abilities each day, we are deeply grateful for her. She is a precious gift, bringing immeasurable joy to our family. Everyday with her is a blessing.
We are truly grateful for the support we have received from MPS Society and Cure Sanfilippo, whose dedication to research, advocacy, and community is truly impacting our family. We are also truly grateful for Raelin’s medical team, compassionate ABA therapists, caring school team, church, and amazing friends and family. Through this journey, we have also met other truly incredible MPS Families. It is community that helps give us the courage to face each day and reminds us that we are not alone in this journey.”
Matthew Wain (MPS I)
The Wain family’s journey with MPS began in 1987 when their firstborn, Matthew, was diagnosed with MPS I. Doctors immediately asked if there were other children, and at just three months old, Matthew’s younger sister, Stacy, was also diagnosed with MPS I. At the time, bone marrow transplants were an emerging treatment. Due to complications from prematurity and weak lungs, Matthew was not a candidate, however Stacy was deemed an ideal recipient.
The Wain family traveled to Iowa, where Stacy became the first patient to receive an unrelated bone marrow transplant at the University of Iowa. Amidst their hope for the future, in 1990 the family also experienced heartbreak: Matthew passed away.
Stacy Wain (MPS I)
Despite the challenges she faced and the loss of her brother, Stacy became a trailblazer for individuals with Hurler syndrome. She graduated from high school, attended classes at a local community college, and embraced independence, eventually living in her own apartment with her beloved cat.
In 2014, Stacy underwent surgery for her gallbladder and spleen. Sadly, six days later, she passed away due to complications from the surgery.
Stacy’s mother, Nancy Wain, remembers her as spunky and spirited, and said that her laugh could light up a room.
“The MPS Society was a blessing to our family with the support it offered,” said Mrs. Wain. “Meeting new friends at conferences made us feel like we weren’t alone, and for that we are grateful.”
Click here to read the latest edition of Courage online, or click here to download a PDF copy.
DURHAM, N.C. (February 5, 2025) – The National MPS Society is pleased to announce the appointment of Dr. Scott Loiler as its new Chief Scientific Officer (CSO). With over 30 years of experience in virology and gene therapy, Dr. Loiler brings a wealth of expertise to the organization, furthering its mission to advance research and therapies for patients in the mucopolysaccharidosis (MPS) community.
Dr. Loiler has played a critical role in developing therapies for more than nine indications, including MPS IIIA, IIIB, Zolgensma, and Elevidys. He joins the Society from Apic Bio, where he served as President and Chief Technology Officer, successfully leading the development of the company’s SOD1 ALS gene therapy—now licensed to UniQure for continued clinical development.
A recognized leader in AAV gene therapy, Dr. Loiler has worked alongside pioneers in the field, specializing in vector design, capsid modification, manufacturing, analytical methods, and regulatory processes. His extensive experience will be instrumental in guiding the Society’s research initiatives, strengthening partnerships, and accelerating the development of transformative treatments.
“We are thrilled to welcome Dr. Loiler to the National MPS Society as our new Chief Scientific Officer,” said Terri Klein, CEO and President of the National MPS Society. “His expertise and passion for advancing research in rare diseases will be instrumental in driving our mission forward. As we continue to expand our impact, he will play a critical role in shaping our scientific strategy, fostering collaboration, and accelerating progress toward better treatments and outcomes for those affected by MPS and ML. We look forward to the leadership and innovation he will bring to our team.”
As CSO, Dr. Loiler will oversee the Society’s Research Grants Program, supporting a range of initiatives from public health-based newborn screening to drug evaluation and approval policies. His leadership will drive innovation, ensuring that scientific advancements translate into meaningful outcomes for individuals and families affected by MPS.
“I am honored to join the National MPS Society and contribute to the vital work being done to support patients and families,” said Dr. Loiler. “I look forward to collaborating with the Society’s talented team to advance research and bring new therapies to patients.”
For more information about the National MPS Society and its research initiatives, visit www.mpssociety.org.
For most of his 10 years, Jacob has been a puzzle. Born prematurely, he faced challenges from the start. Diagnosed with Level 3 Autism and an unspecified developmental disability at a young age, Jacob’s life was marked by unanswered questions. His mother, Jen, always had a nagging feeling that there was something more going on—something that didn’t fit the labels and diagnoses they had been given.
Jen, a single mother with a limited support system and two young sons to care for, never stopped advocating for Jacob. “It was exhausting,” she recalls. “But I couldn’t ignore the signs. There were too many things that didn’t add up.”
Her persistence finally led her to a neurologist in 2022, where Jen and Jacob began the process of genetic testing, but the process proved to be an uphill battle.
Jacob with his younger brother, Cameron.
Initially, insurance denied coverage for the tests, creating a significant roadblock. After they were able to get approval, Jacob’s first swab was submitted, but the wait for results was long and stressful– ultimately, the family was informed that the test results could not be processed, and they would need to submit a new swab. Finally, in September of 2024, the results uncovered the diagnosis: Jacob had MPS IIIB, or Sanfilippo Syndrome, a rare, progressive genetic disorder that impacts the brain. However, for reasons unknown, the neurologist didn’t share this life-altering information with Jen until three months later, in late December 2024.
“When he finally told me, he said there was nothing he could do for Jacob. That this diagnosis was terminal,” Jen says. “I was devastated. I sat there, trying to process what he was telling me, and all I could think was: what now?”
For Jen, the news marked the beginning of a new mission. She was determined to raise awareness about MPS IIIB, knowing that Jacob’s story could help other families avoid the long road she had endured. “I know that we probably won’t find a treatment or a cure that can benefit Jacob in his lifetime,” she says. “But if our story can bring awareness, find a diagnosis for just one child, then I will feel like we have made a world of difference.”
Despite the heartbreak, there have also been glimmers of hope. Jacob’s diagnosis led Jen to the National MPS Society, an organization that provides support for families and individuals impacted by MPS, and works to award funding to researchers who are investigating treatments for MPS IIIB and other lysosomal storage disorders.
“Connecting with the Society has meant the world to me,” Jen says. “I finally feel like I’m getting help.”
Jacob and Ellie both have Sanfilippo Syndrome and became fast friends.
Jen also takes comfort in her connection with a nearby family whose daughter, Ellie, is close in age to Jacob and also has Sanfilippo Syndrome. The children have become quick friends, and Jen says that the opportunity to connect with another family who understands her journey so intimately has been transformative.
Along with finding new support systems, Jen has been able to secure resources for Jacob over the years that have benefited him immensely. For example, for the last year he has attended a specialized school where he receives one-on-one care tailored to his unique needs. Remarkably, Jen noted that Jacob’s mental regression, a hallmark of Sanfilippo Syndrome, appears to have slowed with the transition into this setting. Respite care and other support services have also provided some much-needed relief for Jen and her family.
While Jen treasures these bright spots, she remains focused on sharing Jacob’s story with the world.
“It has become my life purpose to share Jacob’s story, and to make people aware of MPS,” she says. “My son is wonderful, and I want them to see that—but I also want them to know that it took way too long to find a diagnosis, and that, had we known, we could have given him care that was more fit for his needs. No parent should have to go through what I have gone through—and no child should go ten years without the right support.”
Jen’s advocacy is a testament to her unwavering love and determination. And for Jacob, every day is a reminder of her strength and her purpose—sharing his light with the world, one day at a time.
Do you have MPS or ML, or know someone who does? Do you want to share your story? Click here to fill out a submission form for an opportunity to be featured on our blog.
We hope you are planning on joining us in Orlando, FL, from December 19-21, 2024, for our 38th Annual Family & Scientific Conference, or for our SPIRIT Conference for adults with MPS and ML! Part of the magic of our conferences this year – aside from celebrating 50 years! – are their proximity to Walt Disney World. We truly hope that our attendees will take advantage of this fact, and spend some quality time with their families before or after sessions on Disney property.
Free Things to Do at Disney World
Disney World can be pricey, but there are still fun, free things that families can do in and around the parks to make their experience magical:
#1. Get a Free Button from your Resort or Guest Services
Sometimes you might see people walking around Disney World with a giant button that might say something like, “It’s my Birthday,” or “I’m Celebrating!”
If you want one of these buttons, all you have to do is let a cast member know at any guest services booth: just let them know if you’re here for a birthday, anniversary, or whatever it is you’re celebrating!
Note: Sometimes (not as much as they used to pre-Covid, but sometimes!) you will get a little extra magic because you’re wearing the button, like a free cupcake for your birthday.
Ride the Skyliner
The Disney Skyliner is a fan favorite at Disney World! It was added as a form of transportation in 2019, and can be fun to ride (unless you are afraid of heights, in which case you probably shouldn’t…).
You do not have to be staying at a Disney resort to take advantage of all their free transportation options. In fact, riding the free transportation options takes up a good portion of this list (because they’re so much fun!).
You can ride the Skyliner to EPCOT, Hollywood Studios, the Art of Animation & Pop Century Resorts, the Caribbean Beach Resort and the Riviera Resort. You can also access the Swan & Dolphin Resorts, Yacht and Beach Club Resorts and the Boardwalk Resort via the EPCOT Skyliner.
Pro Tip: Ride the Skyliner over EPCOT at night around 9 pm to see the fireworks!
Ride the Boats
The boats are a fun and relaxing way to spend an afternoon.
You can ride a boat from the Magic Kingdom entrance to several of the resorts across the lake, including the Polynesian, Grand Floridian, Fort Wilderness and Wilderness Lodge. You can also ride a boat from Hollywood Studios and the back entrance of EPCOT to the Boardwalk, Yacht & Beach Clubs and Swan & Dolphin Resorts.
If you’re hanging out at Disney Springs, you can take a boat across the lake to Saratoga Springs, or downriver to Old Key West or Port Orleans.
Good to Know: You do have to go through security to access most of the boats.
Pro Tip: Ride the boat from Polynesian or Grand Floridian Resort around 9 pm to see the fireworks from the water.
Ride the Monorail
Another fun form of transportation is the monorail. Perhaps not quite as fun as riding the boats or the Skyliners, it’s still free. It’s also super magical if you can time it just right to see the fireworks (but you only get the view for a second).
You can take a monorail from the Magic Kingdom entrance to the Contemporary, Polynesian and Grand Floridian resorts. You can also get a monorail from the entrance to EPCOT that goes to the Transportation and Ticket Center, where you can transfer to the resorts monorail.
Explore the Boardwalk
All Disney resorts are fun to visit, but the Boardwalk Resort is the best. On the back of Disney’s Boardwalk Resort is an actual boardwalk, full of restaurants, stores, games and entertainers. And it’s all situated on a picturesque lake!
There is so much to do at the Boardwalk. You can rent bikes, play the carnival games, visit the dancehall, or just enjoy the atmosphere. It’s also a great place from which to grab a boat or ride the Skyliner.
Visit All the Disney Resorts
The best thing to do on a free day at Disney World is to visit all of the Disney resorts, or in other words, go resort hopping.
Each resort has its own charm and style, with unique decorations, gift shops, and restaurants. The Animal Kingdom Lodge even has real animals wandering around the grounds (fenced in, of course!).
Besides just exploring the lobbies and shopping in the gift shops, there are a lot of other free things to do at Disney at the resorts, like pin trading, and other resort activities.
Pin Trade Around the Resorts
Pin trading is popular at Disney. Guests can buy souvenir pins in any gift shop on property. You can also find lots of pins online, which people like to do beforehand so that they have a lot to trade.
Every gift shop and front desk has a pin board you can ask to see. If you find any pins on the board you like, you can trade one of your pins for it! Some resorts even have secret pin boards, so you pick a number and get a surprise pin (but you don’t have to trade for it if you don’t like it).
Try Some of the Resort Activities
There is always a lot going on at any given Disney resort. You can find a list of activities at each resort posted by the pool.
Some of these activities are going to cost money and require advance registration, like an animation drawing class. Others will be free, like roasting marshmallows by the fire (though you can pay for chocolate and graham crackers).
Be sure to check out the posted activities, or ask at the front desk.
Tour a Disney Vacation Club Property
Another free thing you can do at Disney is to tour a Disney Vacation Club property. The Disney Vacation Club (DVC) is a program that lets you buy a timeshare in a Disney property, and then use points to stay at Disney year after year. You can sign up for a tour in the lobby of any hotel, or at any theme park. Disney will provide transportation to take you to the site you choose for the tour, and at the end you will get a free pin!
Note: don’t sign up for a DVC membership (that is NOT free!)
Visit Disney Springs
Disney Springs is the huge entertainment and shopping complex run by Disney. It is on the lake across from Saratoga Springs Resort, and it is HUGE! There is so much to do there!
It’s free to enter Disney Springs (but you will have to go through a security checkpoint). But then there are a lot of things to spend money on once you’re there! From sandwiches at Chef Mickey’s to a show by Cirque du Soleil, or fine dining on the water to a convertible boat ON the water, there are so many things to do at Disney Springs. You could easily fill up a whole day here.
Pro Tip: Don’t forget to bring pins to trade! A lot of shops will have pin boards, or cast members with pin lanyards.
Watch the Fireworks!
The best way to end your day after exploring all the free things to do at Disney is to watch the fireworks (for free, of course!). Here are some of the best free spots to watch the Disney fireworks:
About the Author: Julia Rexford is the cousin of Society board member Jason M., and daughter to Wayne, both of whom have MPS II. She (along with Wayne, Jason and the rest of their family) has been to Disney World countless times over the years, and has developed some content to help families attending the 38th Annual Family & Scientific Conference or SPIRIT Conference have the best Disney experience possible. Julia is also the author of a travel blog, where you can find more Disney insights and tips: Planned Wanderings.
We hope you are planning on joining us in Orlando, FL, from December 19-21, 2024, for our 38th Annual Family & Scientific Conference, or for our SPIRIT Conference for adults with MPS and ML! Part of the magic of our conferences this year – aside from celebrating 50 years! – are their proximity to Walt Disney World. We truly hope that our attendees will take advantage of this fact, and spend some quality time with their families before or after sessions on Disney property. We hope that this resource will be helpful, but we also recommend reviewing Disney World’s free Accessibility Planning Guide, or visiting Disney World’s dedicated accessibility web pages for guidance on planning your trip.
How to Get to Disney World
Where to Park at Disney World
If you are driving yourself to Disney and are not staying at a Disney Resort, the best place to park is Disney Springs, which has free parking and is located across the street from the host hotel for the 38th Annual Family & Scientific Conference. Guests can get a bus from Disney Springs to any Disney Resort, and from there can use the free transportation options to get anywhere on Disney property. Just be sure to budget enough time for transportation!
Free Transportation at Disney World
Once you get on Disney property, there are many free modes of transportation, including:
All forms of transportation at Disney are handicap accessible! Just let the cast member at the entrance know you will need an accessible ride and tell them about any mobility aids that may be riding with you, and they will direct you to the best boarding area.
Further Reading
If you would like more information about getting around Disney World, the author has an even more in-depth article on her blog about Disney transportation.
If you have any more questions about visiting Disney World, check out the Plan Disney blog, with lots of frequently asked questions. You can even ask your own question!
About the Author: Julia Rexford is the cousin of Society board member Jason M., and daughter to Wayne, both of whom have MPS II. She (along with Wayne, Jason and the rest of their family) has been to Disney World countless times over the years, and has developed some content to help families attending the 38th Annual Family & Scientific Conference or SPIRIT Conference have the best Disney experience possible. Julia is also the author of a travel blog, where you can find more Disney insights and tips: Planned Wanderings.
