Skip to content

Supporting the Niemann-Pick community in an era where treatments are possible

By Laurie Turner, NNPDF Family Services Manager

Throughout its history, the National Niemann-Pick Disease Foundation (NNPDF) has been committed to providing support that can make the journey of living with Niemann-Pick disease easier. And for most of that time, the focus has been on helping patients get the information and support they need while no approved treatments have been available. In my role as NNPDF Family Services Manager, I have seen firsthand how patients and caregivers have worked tirelessly to support research and to take whatever steps are available to preserve and protect their health. I have witnessed extraordinary efforts to overcome so many challenges and to try to stay positive and keep fighting. And at NNPDF we have continually worked to expand and revise our resources and support programs to meet the changing needs of our community in new and better ways.

More recently, our community has faced a wonderful new set of both challenges and opportunities following the first-ever approval of a treatment for ASMD. Once again NNPDF has risen to the occasion with many forms of support and resources to help families learn about and access treatment. And the learnings from this experience have provided us with many important insights as we plan for an era when even more treatments will be available to patients.   

The approved treatment, Xenpozyme, is enzyme replacement therapy developed to replace the enzyme acid sphingomyelinase (ASM) that is deficient or defective in people living with ASMD. As this drug was developed, NNPDF took several steps to help families learn about the research and understand how the drug works. We also worked to help many patients get access to this treatment before it was approved through a special initiative known as a managed access program. In our outreach we learned that many families were not aware that it can be possible to get access to a treatment prior to approval.

Our support continued through the final stages of regulatory review – taking steps to make sure families were updated and ready in the event that the drug was approved. Our programs and outreach worked to help families understand the steps they need to take to be able to access a new drug once it is commercially available. This included information about the cost of the drug, insurance coverage and reimbursement, home-versus-center infusions, travel needs, side effects and other important considerations. We wanted to make sure that the community was ready and informed so that appropriate patients could access treatment as quickly as possible.

In addition to working with families, we also met regularly with the team at Sanofi, the company that developed Xenpozyme. In these meetings we discussed the importance of making sure that patients could access treatment and we worked with their team to explore options to support families facing special challenges. We also highlighted the importance of communication as families continued to have questions after they began treatment. We worked to make sure that patients and families knew where to go with questions and about the services available through the Sanofi Care Team and The Assistance Fund, a nonprofit that provides support for families that need high-cost medicines.

Our experience supporting the ASMD community has also provided many essential insights that will help us better support all people impacted by all types of Niemann-Pick disease in the years ahead and especially as we plan for more treatments to be available. The successful approval of Xenpozyme has put hope on the horizon like never before. And for all people who are affected by Niemann-Pick disease, the NNPDF team will be ready with the information and services you need to access care and get the fullest possible benefits from treatment.

Follow National Niemann-Pick Disease Foundation on LinkedIn for more insights, stories, and updates.