Mucopolysaccharidosis IV

Pictured: A green, blue and pink ribbon representing rare disease advocacy/iStock, itakdalee Yesterday was Rare Disease Day 2024. It was a reminder of the importance of raising awareness for rare diseases—defined as those that affect fewer than 200,000 people in the U.S., but collectively affecting some 30 million Americans. While much has been achieved in improving access to lifesaving and life-changing treatments, much more remains to be done for patients with these disorders. Despite recent investment and breakthroughs for rare diseases, experts told BioSpace that helping a much larger patient population will require cross-sector support and desperately needed funding. We looked at some of the investments to date, as well as the biopharma industry’s promising pipelines and what is required to bring more groundbreaking therapies to patients with unmet medical needs. Not surprisingly, patient advocacy groups (PAGs) have been critical to the development of the first marketed drugs for certain rare diseases, including progeria and Friedreich’s ataxia. BioSpace spoke with leaders of PAGs formed by families coping with rare diseases, providing case studies on their partnerships with biopharma companies and the sharing of resources and expertise to maximize the impact of R&D and clinical trials. BioMarin Pharmaceutical picked the wrong week to disclose that it has been hit with a Department of Justice subpoena in connection with its sponsored testing programs for the rare disease therapies Vivizim—an FDA-approved enzyme replacement therapy for the treatment of Morquio A syndrome—and Naglazyme, an enzyme replacement therapy approved for mucopolysaccharidosis VI. Vivizim was approved in 2014 and Naglazyme was approved in 2005. In one of 2023’s most highly anticipated FDA approvals, Sarepta Therapeutics’ Elevidys got approved in June as the first gene therapy for DMD targeting the underlying cause of the progressive genetic muscle-wasting disease, despite failing to meet the primary functional endpoint in a randomized trial. With a $3.2 million per patient price tag, Elevidys—developed and commercialized in partnership with Roche—also has the dubious distinction of being one of the world’s most expensive medicines. Sarepta CEO Doug Ingram told investors in Wednesday’s fourth quarter and full-year 2023 earnings call that the launch of Elevidys was “particularly impressive,” bringing in over $200 million in revenue since mid-2023, especially given that its label is “limited to four- and five-year-olds, representing only about 3% or so of the total Duchenne population.” The successful launch of Elevidys “shows that gene therapy can be commercially viable, providing hope for those patients with Duchenne, and for all those with genetic conditions with unmet needs,” Sarepta Chief Customer Officer Dallan Murray said during the call. However, Murray cautioned analysts to “not use this current younger population as a frame of reference for our market potential in the overall population.” At the end of last year, Sarepta submitted a supplemental BLA seeking to expand the gene therapy’s label by removing age and ambulation restrictions, while transitioning Elevidys from an accelerated to a traditional approval. The FDA has set a PDUFA date of June 21, 2024, and will not convene an advisory committee meeting to discuss the efficacy supplement to the BLA. “Hopefully, by July, we will have a broader label and we will be able to serve a much greater percentage of the [DMD] population,” Ingram said. Next, Sarepta should work on lowering the hefty price of Elevidys and ensuring equitable access to as many patients as possible who will benefit from the therapy. Greg Slabodkin is the News Editor at BioSpace. You can reach him at greg.slabodkin@biospace.com. Follow him on LinkedIn.

BioMarin is the subject of a probe by the U.S. Department of Justice, which has served the company with a subpoena requesting information on government-sponsored testing programs for enzyme replacement therapies Vimizim and Naglazyme. BioMarin has provided documents to the U.S. Department of Justice in response to a subpoena which requested information on the company’s government-sponsored testing programs for enzyme replacement therapies Vimizim and Naglazyme. The California biotech revealed the subpoena in a 10-K annual report that it filed on Monday. Both medicines are for the rare genetic condition mucopolysaccharidosis, a lysosomal storage disorder. Vimizim (elosulfase alfa) treats the Type IVA (Morquio A syndrome) version of the condition and has been on the market for 10 years. Naglazyme (galsulfase) treats Type VI (Maroteaux-Lamy syndrome) and was approved in 2005. "We have produced documents in response to the subpoena and are cooperating fully, but there is no assurance that such sponsored testing programs, or our other operations or programs, will not be found to violate" certain U.S. laws, the company said in the filing. The company warned that it may be required to pay penalties, be under increased government scrutiny or be suspended from participating in government healthcare programs if it is found in violation of privacy or data protection laws.  “This does not relate to the safety and efficacy of Vimizim and Naglazyme,” a BioMarin spokesperson said in an emailed statement. “While we have produced documents in response to the subpoena and are cooperating fully, we are still in early stages in responding to the subpoena and we currently cannot comment on any specific details.” The news made little impact on BioMarin's shares as their price has dropped by less than 1% since Monday morning. Both programs in question are for drugs that are among BioMarin’s best sellers. Vimizim generated sales of $701 million last year, while Naglazyme delivered $420 million in revenue. The duo combined for 46% of the company’s overall revenue last year of $2.42 billion.

The Department of Justice has issued a subpoena to BioMarin over issues with its sponsored testing programs for two of its rare disease drugs, the company disclosed in an annual SEC filing on Monday. The subpoena seeks documents on BioMarin’s sponsored testing programs for Vimizim (elosulfase alfa), an enzyme replacement therapy for the rare genetic disease Morquio A syndrome that affects the spine and some organs. It also requests documents for its program for Naglazyme (galsulfase), another enzyme replacement therapy for people with mucopolysaccharidosis VI, a rare condition that can cause tissues and organs to atrophy. You’ll get access to free articles each month, plus you can customize what newsletters get delivered to your inbox each week, including breaking news.