In the early days of his career, a young scientist named Emil Kakkis found himself deep in the world of academic research, working with the renowned Dr. Elizabeth Neufeld. Their focus was on a rare genetic disease, MPS I, caused by a missing enzyme. With dedication, he and Dr. Neufeld managed a breakthrough: they produced the enzyme and successfully treated dogs with MPS I. Yet, despite this progress, there was no clear pathway to bring the treatment to human patients. The project, on the verge of being shelved, seemed destined to become another entry in a scientific journal, rather than a life-altering therapy.
Then, at a critical moment, he met Mark and Jeanne Dant, who introduced him to their five-year-old son, Ryan, who was living with MPS I. “At that moment, the science became real,” said Dr. Kakkis. “It became personal, not just academic.”
What followed was a hard-fought journey, powered by donations and dreams. Over time, their project gathered momentum, ultimately capturing the attention of biotech company BioMarin. Thanks to their backing, the therapy reached the finish line, and on February 13, 1998—what would become Ryan’s “lucky day”—he received the first enzyme replacement therapy (ERT). It was a treatment that would not only change his life but would allow him to thrive: Ryan grew up, got his driver’s license, graduated from high school, went to college, and eventually married. Today, 26 years later, Ryan still benefits from that very therapy.
Inspired by this success, Dr. Kakkis’s mission took on new life. At BioMarin, he pursued treatments for other MPS disorders, such as MPS VI, which included collaborating with Dr. Hopwood to develop Naglazyme after overcoming significant manufacturing challenges. Next, they worked on Vimizim for Morquio, pushing past initial beliefs that the disease was limited to bones to address its effects throughout the body. Later, at Ultragenyx, he led efforts to produce Mepsevii for MPS VII and saw it approved. Most recently, his team at Ultragenyx took on a gene therapy project for MPS IIIA from Abeona, moving the therapy toward a potential FDA approval that could offer the first treatment for Sanfilippo syndrome.
“Witnessing the transformation of the MPS Society from one of pure patient support to one of treatment access and policy has been exciting to see,” said Dr. Kakkis, “Now the next phase could bring more decisive single treatments for MPS diseases, and more hope for untreated families to finally be treated for the first time.”
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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.
Click here to download full text.
Durham, NC
August 3, 2022 – The National MPS Society announces that Xavier Becerra, the Secretary of the Department of Health and Human Services (DHHS) has approved adding MPS II as a condition to the recommended uniform screening panel (RUSP) for newborns. This long-awaited acceptance follows the Advisory Committee on Heritable Disorders in Newborns and Children’s (ACHDNC) approval to move the nomination forward to DHHS after a considerable evidence review. Becerra stated:
“After considering the utility of current screening technologies, treatment for MPS II, and the impact on public health systems, I accept the Committee’s recommendation to expand the Recommended Uniform Screening Panel to include the addition of MPS II.”
Conditions listed on the RUSP are provided to individual states as a recommendation for adoption for newborn screening.
This nomination, led by National MPS Society President/CEO Terri Klein and Chief Scientific Officer Matthew Ellinwood, was the product of years of work and collaboration, publications, and a community with a purpose. Klein shares:
“This is a momentous occasion for the MPS II Patient Community. Today, we can begin identifying newborns with MPS II, Hunter Syndrome. I am grateful to DHHS for expanding the RUSP and recognize this will improve the lives of newborns and infants across our country.
Screening newborns for MPS II will provide equitable access to immediate, life-saving therapies. Equitable access will provide testing to everyone, including traditionally under-served communities. Since enzyme replacement therapy (ERT) has been available for our boys, we have witnessed increased quality and length of life and an opportunity for young men to thrive in the world.
Now, early access will erase many of the debilitating manifestations of this disease. Newborns treated with ERT will have access to eventual therapies that address cognitive decline that are being developed and in clinical trials today.”
We would like to extend thanks to the ACHDNC for their newborn screening review. We also recognize and appreciate the families and individuals with MPS II who shared their stories and experiences and the thousands of signatories who contributed to the letter of support provided to the ACHDNC.
MPS II is the second MPS disorder to be included on the RUSP. MPS I was added by DHHS in 2016. Today, 30 states screen for MPS I. Our efforts to add newborn screening for all MPS diseases remain at the forefront of our work. With MPS I and MPS II now on the RUSP, the Society will submit a request for MPS VII, Sly Syndrome, in the coming months. We are investigating paths forward to present requests for MPS III, IVA, and VI and continue to prioritize this work, recognizing this as an effort that supports preservation of physical and cognitive functioning for babies diagnosed and directly saves lives.
To access the letter from the Department of Health and Human Services, please click here.
The Assistance Fund, an independent charitable patient assistance foundation that helps patients and families facing high medical out-of-pocket costs, has launched a financial support initiative for MPS VII patients and their families. The program offers funds that can be used for copayments, health insurance premiums and incidental medical expenses.
“Individuals with MPS VII face a lifetime of medical interventions to improve their quality of life and slow the progression of the disease,” said Terri Klein, interim CEO and director of development and operations at the National MPS Society. “Treatment is vital to help prevent irreversible organ and tissue damage, but the high costs associated with care can make it out of reach for many families. With support from The Assistance Fund, more patients with MPS VII will undergo the treatment regimens that can best preserve their health.”
Individuals interested in learning more or determining their eligibility for assistance should visit tafcares.org or call (855) 514-5111 to speak with a patient advocate.
The U.S. Food and Drug Administration today approved Mepsevii (vestronidase alfa-vjbk) to treat pediatric and adult patients with MPS VII, Sly syndrome.
The safety and efficacy of Mepsevii, developed by Ultragenyx, were established in clinical trial and were tested on 23 patients ranging from 5 months to 25 years of age. Patients received treatment with Mepsevii at doses up to 4 mg/kg once every two weeks for up to 164 weeks.
Patients were given a six-minute walk test to measure efficacy, and after 24 weeks of treatment, subjects on the treatment regimen improved by about 60 feet. After 120 weeks, there was improvement in three patients and stabilization in the others. Two patients in the Mepsevii development program experienced marked improvement in pulmonary function. Overall, the results observed would not have been anticipated in the absence of treatment. The effect of Mepsevii on the central nervous system manifestations of MPS VII has not been determined.
The FDA granted this application Fast Track designation, which seeks to expedite the development and review of drugs that are intended to treat serious conditions where initial evidence showed the potential to address an unmet medical need. Mepsevii also received Orphan Drug designation, which provides incentives to assist and encourage the development of drugs for rare diseases.
For more information, please visit Ultragenyx’s website.
Sangamo Therapeutics treated its first patient in the Phase 1/2 clinical trial (“the CHAMPIONS study“) evaluating SB-913, an investigational in vivo genome editing therapy for people with MPS II, Hunter syndrome.
Sangamo aims to treat MPS II by using genome editing to insert a corrective gene into a precise location in the DNA of liver cells with the goal of enabling a patient’s liver to produce a lifelong and stable supply of an enzyme he or she currently lacks.
“Even with regular infusions of ERT, which has markedly improved functional health outcomes, patients endure progressive damage to heart, bones and lungs. Many patients with MPS II die of airway obstruction, upper respiratory infection or heart failure before they reach the age of 20,” said Paul Harmatz, M.D., a pediatric gastroenterologist and a principal investigator for the CHAMPIONS study at the UCSF Benioff Children’s Hospital Oakland, where the first subject in the study was treated.
For more information, visit Sangamo’s website.
