Lucas was the youngest of four children. From the start, he stood out—not just as the baby of the family, but as the only one diagnosed with Sanfilippo Syndrome (MPSIII). Lucas’s family’s journey to understanding his condition was long and winding, stretching over eight years filled with visits to geneticists and specialists. It wasn’t until 2006, when Lucas was eight years old, that they finally received his long-awaited diagnosis.
With a diagnosis in hand, Lucas’s family made a decision to focus on the present and ensure that Lucas was comfortable and happy. Alongside caring for Lucas, his family felt compelled to take action. Their fundraising efforts began in earnest shortly after his diagnosis, driven by a desire to bring awareness to MPS and ML research.
“We have hosted numerous yearly awareness events, galas, golf outings, and walk/runs in addition to running an online clothing line called Lucas Gear,” said Lucas’s mother, Stacey Montgomery. “[We did all of this] in hopes of bringing awareness and raising funds for research for MPS and ML.”
Despite the challenges of MPSIII, Lucas was a beacon of positivity.
“Lucas brought awareness to his syndrome, always smiling and inspiring others to be courageous, positive, and strong, and to fight for what they believed in,” said Stacey. “He had a tremendous amount of love for his family and made sure his family felt as strong as he was.”
Despite his contagious joy and strength, Lucas passed away in 2018. His family hopes that his story will inspire others to embrace their unique challenges and rise above perceived obstacles, and that his legacy of love and strength will create a brighter future for all.
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.
From Terri Klein, President & CEO:
Over four years ago, Dr. Matthew Ellinwood came to work side-by-side with the National MPS Society Board of Directors and team. I knew then that he was the perfect researcher to fill the inaugural role of Chief Scientific Officer (CSO). His accomplishments while building out the Science Program for the Society have been invaluable, and his astounding efforts in newborn screening, state advocacy, new networks, advocacy, and publications have shown us that the future is bright for the patient community.
It is with gratitude for his many years of service that I now share Matthew‘s intention to depart from his full-time role as CSO in the early spring of 2025.
Science is a vital mission of the National MPS Society, and while it is bittersweet to see him move away from a full-time capacity, we look forward to continued collaboration with Matthew in the future and the opportunity to bring a new CSO on board.
Congratulations Matthew!
“When I began my professional journey, I knew I wanted to find a role that allowed me to make a positive difference in the world. When I entered into the MPS field in 1998, I got to know MPS families, the Society, and my research colleagues, and I quickly knew I had found a scientific and career home. In the intervening quarter century, our broader community has accomplished so much! It is indeed impressive to think that beyond HSCT, we had no treatment options in 1998. We now have 5 drug approvals, national implementation of newborn screening for two MPSs, state screening for a third MPS disorder, and potential accelerated approval looming on the horizon for both gene therapy and second generation ERT.
As I depart from my active role next year, I do so knowing all of these tremendous and transformative accomplishments will continue, until we can reach every MPS and ML II/III patient with effective treatments at the optimal time for the best outcomes. The future is bright, and I know my successor will help our community move forward.
I also wanted to take this moment to thank you all for making this such a warm and gratifying community to work with. I feel so deeply lucky and blessed to have arrived within your midst, and to have done what I could to advance our shared mission goals.”
– Dr. Matthew Ellinwood
Benji C. is a strong, confident, self-assured, loud, and determined 8-year-old with MPS I.
When Benji was a baby, his parents had some unique concerns about his health and brought them to their doctor. The doctor told them that what Benji was experiencing was normal for boys his age, and not to be concerned because all kids develop differently. Then, at 15 months old, someone suggested to Benji’s parents that his coarse facial features might be an indicator of a genetic disease.
After an expedited trip to a geneticist, Benji was diagnosed with Hurler Syndrome at 16 months of age. He immediately started Enzyme Replacement Therapy (ERT), and at 18 months old he underwent a Bone Marrow Transplant with cord blood.
Benji’s transplant recovery was a long one. He dealt with complications such as a Graft-versus-host disease (GHVD) skin infection and auto immune hemolytic anemia. Benji’s family did not realize how long of a journey they would have post-transplant, but they learned to celebrate all the little wins along the way. Still, it took Benji two to three years longer to do things that other children his age might, like learning to talk and getting potty trained.
“I would never have expected us to be in as great of a place as we are,” said Benji’s mother, Tamara. “Despite his surgeries for carpel tunnel, umbilical hernia, hip realignment, and guided growth of his knees, he is one of the most positive, grateful children I know. He loves life, singing, and school, and while this isn’t a journey we would have wanted to be on, we would not change our son in any way.”
The National MPS Society is pleased to share an update on RGX-121, an investigational gene therapy for MPS II (also known as Hunter Syndrome), from REGENXBIO!
“A potential one-time treatment that can allow these boys to exceed the natural history of this disease in their neurocognitive development, as well as the ability to remain off enzyme replacement therapy for multiple years represents a meaningful option for patients and their families,” said Roberto Giugliani, M.D., Ph.D., Professor, Department of Genetics, UFRGS, Medical Genetics Service, HCPA, Porto Alegre, Brazil. “I continue to be very encouraged by the data supporting RGX-121 and look forward to seeing this program advance towards potential approval for this community.”
You can read a statement from REGENXBIO below, or you can click here to read more about the therapy and its trial results on their website.
After recent successful meetings with the FDA, Denali Therapeutics announced its plan to file for accelerated approval of DNL310 for the treatment of MPSII, also known as Hunter Syndrome.
“We thank CDER for a positive and collaborative discussion and their guidance on CSF HS as a surrogate biomarker, which we see as a significant step towards accelerating development of medicines for individuals and families living with MPS II,” said Carole Ho, MD, Chief Medical Officer of Denali. “This milestone reflects a collective effort across the patient community, academia and industry to communicate the science and advocate for faster paths to effective treatments addressing these devastating rare diseases. We are excited by the potential to deliver a new MPS treatment sooner using the accelerated approval pathway. We also look forward to plans for conversion to full approval following completion of the global Phase 2/3 COMPASS study, and we are grateful for the continued participation and commitment of patients, clinicians, and study teams involved in the tividenofusp alfa clinical studies.”
Denali Therapeutics plans to submit biologics license application (BLA) early in 2025 under the accelerated approval pathway.
Click here to read their full release.
Dearest Sanfilippo Community Members and Allies,
It is with deep sadness that we inform you of the impending liquidation of Allievex. Since the beginning of this drug program with BioMarin (as BMN 250), and then through its acquisition by Allievex (as AX 250), the National MPS Society has been a strong supporter of this drug program and of the Sanfilippo type B community who benefited from its development.
The Allievex treatment was an enzyme replacement therapy using tralesinidase alfa which was delivered weekly directly to the brain via a catheter. This therapy corrected the enzyme deficiency of MPS IIIB patients. The therapy reduced heparan sulfate levels in the brain and spinal cord in preclinical studies, and levels were lowered in the cerebrospinal fluid of treated patients. Especially in the cohort of trial patients who began treatment at a young age, therapy halted the neurodegenerative process and preserved neurological function in patients.
Despite these promising results, the collective efforts of Allievex’s team, and the support of rare disease advocates, researchers, clinicians, families, and allies around the world, the desired regulatory flexibility from the FDA around Accelerated Approval Pathway was not forthcoming during their early discussions with the FDA. They ceased all business operations in October 2023. However, the Allievex team remained hopeful, and pursued additional FDA engagement.
In March of this year, former Allievex employees met with the FDA Center for Drug Evaluation and Research, where the FDA changed course. Allievex was encouraged to file its Biologics License Application for consideration under the Accelerated Approval Pathway. While this was good news, it came too late to rescue the business. Today Allievex announced that they had entered an assignment for the Benefit of Creditors marking the formal liquidation of their assets.
We share in your deep despair over this outcome. Those families and patients who have benefited from this therapy and who now have nothing to look for in the future are an abiding concern to us. We hope for an acquisition that could revive Allievex but are doubtful after so much time. We are grateful that the Allievex program did play a very positive role in the efforts of other MPS treatment developers such as Denali, Ultragenyx, and REGENXBIO to access improved regulatory paths with the FDA, but today’s news still leaves our MPS IIIB community bereft.
The Society remains committed to advocating for and supporting research and treatments for all MPS disorders, and we will continue to communicate any news regarding the future of Allievex as it develops. If you have any questions, please contact Terri Klein at terri@mpssociety.org.
Together, we hope to find a path forward that ensures the best possible outcomes for everyone who is affected by MPS.
Sincerely and with both sadness at this news and hope for the future,
Matthew Ellinwood, DVM, PhD
Chief Scientific Officer
National MPS Society
Click here to read Allievex Founder Thomas Mather’s full statement.
Each year, we remember individuals with MPS or ML who have passed away but remain in our thoughts and hearts. We invite families and loved ones to share their memories with others.
Through the Angels Among Us publication, we encourage you to join the community in lifting up, remembering and honoring their lives as you read their names and reflect upon their memories.
The 2024 publication is accessible below. This publication is available in a smaller format (standard resolution) for faster download or high resolution for those who want to print a copy.
Angels Among Us: Standard Resolution
Angels Among Us: High-Resolution
You are invited to join us in Bethesda, Maryland for our 37th Annual Family Conference! Located just outside of Washington, D.C., this conference will feature a day of science and advocacy sessions as we meet with the FDA and NIH, and a second day with family conference sessions, care management tracks, and a SPIRIT conference for our adults with MPS or ML (ages 18+). Make plans to come to Maryland on September 28-30th to be a part of the event!
This conference will take place at the Hyatt Regency Bethesda Hotel. For more information and to register, please click here.
Our Connected Together conference will begin on Thursday, September 28 with dinner and breakout sessions. Science and advocacy sessions on Friday will bring you directly into conversations with policymakers and those making decisions about clinical studies and treatments. Adults with MPS or ML will enjoy time together on Saturday, learning about topics they have requested, as families join for sessions relevant to their needs.
We will offer scholarships for families to attend the conference, and for adults to participate in the SPIRIT conference. Click here for scholarship information. All applications must be completed online by July 17, 2023. Scholarships are limited, and prioritized for those who have not been to a conference in person before. Anyone planning to attend should book their rooms early to ensure a space in the block, which provides the best rate per night until it sells out.
Following the conference, we will hold our popular Speakers’ Bureau program in Washington, D.C.! Members interested in attending will be trained in how to share their stories, updated on legislation relevant to the MPS and ML community, and go to Congress to meet face-to-face in meetings on Monday, October 2. The Speakers’ Bureau program offers scholarships to participants. To register for more information and indicate your plans to attend Advocacy Day, click here.
In recognition of International MPS Awareness Day, it is an honor to share Harboring Hope, a short film telling the stories of some of the greatest challenges and areas of unmet need in our community, especially in areas where there are no approved treatment options (mucolipidosis and Sanfilippo syndrome) and where there are significant gaps (such as with our adults diagnosed with MPS or ML).
We must reach to find answers for those without treatment options and continue to advocate for the next generations. Harboring Hope is a video produced by Dan Salvo of Forge Biologics, telling the stories of Lauryn Brown (mother of Blakely, ML II), Carl Kapes (father of Ryan and Brayden, MPS IIIA), and Sheri Wise (MPS IVA). Their words reveal areas for continued work as they speak of overcoming obstacles and finding hope.
Dear Friends,
We cordially invite you to attend the National MPS Society’s Maritime Gala in Tiburon, California on Saturday, May 13. This evening recognizes and honors those with MPS or ML as we celebrate International MPS Awareness Day. We will raise funds for research and family support programs and spend time together on the San Francisco Bay at the Corinthian Yacht Club.
Born of the belief that today’s generation can find tomorrow’s cure, the National MPS Society finds, funds, and partners with people and programs that improve the lives of those suffering from rare progressive diseases and conducts the groundbreaking research necessary to improve their odds.
The evening begins with a VIP guest blue carpet arrival at 6:00 p.m., with other attendees joining at 7:00 p.m. to kick off the night’s events. Tickets include open bar, heavy hors d’oeuvres, delicious desserts, live and silent auctions, and a ragtime and swing live music spectacular. Those unable to join us in person can participate in the auctions remotely, and we encourage you to consider donating to the event or providing a contribution to the auction.
We hope you will share tributes to your heroes by purchasing an ad in our program book, a hero board, or a Gala sponsorship and receive recognition accompanying each sponsorship level.
Join us as we gather as a community to celebrate and make a difference.
Sincerely,
National MPS Society
