On August 9, 2017 the Washington State Board of Health unanimously passed the addition of Pompe disease and mucopolysaccharidosis type I (MPS I) to their state’s newborn screening panel. The Board of Health is the policy body charged with making recommendations to the State of Washington regarding newborn screening. Over the summer the Board convened a technical advisory committee of parents, genetic experts, ethicists and other experts that met twice to consider the data surrounding these two additions, both of which had already been recommended as part of the federal Recommended Uniform Screening Panel. Washington has its own review criteria: available screening technology, diagnostic testing and treatment available, prevention potential and medical rationale, public health rationale, and cost benefit/cost effectiveness. The Board of Health reviewed the recommendations of the Advisory Committee and, as Dr. Thomas Pendergrass, Board Vice-Chair commented when making the motion to add Pompe disease, “This is impacting families and kids. It is something we can do something about. It is something that if we delay doing it we’ve lost he benefit of the short term.”
The materials presented can be downloaded from the Washington State Board of Health by scrolling to Item 09. Also, Item 07 on that web page contains some additional pertinent materials used by the Board in reaching its decision.
The Lysosomal Disease Network would like to thank all who participated on the Washington Board of Health technical advisory committee, the Board of Health and its staff, as well as those who testified at the two Board hearings where this was considered. In particular, the LDN would like to thank the parents of patients with MPS I and Pompe disease who testified about their experiences to the technical advisory committee and the Board of Health. Their stories vividly conveyed to policymakers the benefits of newborn screening. The testimony of Dr. Klane and Amy White, the parents of Susannah White, a child who died from MPS I, summed up the importance of newborn screening: “It is my belief, and that of most families unfortunate enough to have lived through our experience, that while not a perfect answer, newborn screening can reduce this variability and improve patient care. This is not to mention potentially alleviating months to years of uncertainty and anxiety experienced by families stuck in the diagnostic odyssey. It is my firm belief, as well as that of my peers in the rare disease community, that newborn screening is a critical and necessary step forward in the care of our children and families facing MPS and other rare diseases.”
Now, additional steps must be accomplished prior to being able to screen newborns for MPS I and Pompe disease. The Governor of Washington must recommend, and the Washington Legislature must appropriate, monies to implement the screenings in the 2018 legislative session. If this is successful, it will be followed by a rulemaking process through the Washington Department of Health. If all goes well, MPS I and Pompe disease could be added to newborn screening as early as Fall 2018.
The Penn Medicine Orphan Disease Center at the University of Pennsylvania in Philadelphia has announced the recipients of the “2016 Improved Therapies for MPS I” pilot grants. They include two Lysosomal Disease Network physician-researchers: Igor Nestrasil, MD, PhD and Raymond Wang, MD:
• Igor Nestrasil, MD — University of Minnesota Discovery of brain MRI signatures in infants with severe form of MPS I in the pre-HSCT and post-HSCT stage
• Raymond Wang, MD — CHOC Children’s Hospital (Orange County, California) Intra-articular Gene Therapy for Canine Mucopolysaccharidosis Type I Joint Disease
• Joseph Anderson, PhD — University of California, Davis Alpha-L-iduronidase Delivery via Human CD34+ Hematopoietic Stem Cells
• Kim Keeling, PhD — University of Alabama at Birmingham Identify Drugs to Treat MPS-IH Caused by Nonsense Mutations
• Lachlan Smith, PhD — University of Pennsylvania Novel therapies to improve bone formation in Mucopolysaccharidosis I Dogs
• Drew Weissman, MD, PhD — University of Pennsylvania Nucleoside modified mRNA therapy for MPS I
• Carmine Settembre, PhD — Telethon Institute of Genetics and Medicine (Pozzuoli, Italy) Modulation of autophagy to treat skeletal features in MPS I
Elsa Shapiro, PhD, neuropsychologist and expert in rare pediatric diseases; Mark Dant, president and CEO of the National MPS Society (USA); and Christine Lavery, executive director of the Society for Mucopolysaccharide Diseases in the UK, have planned a program to bring experts together from around the world to establish a consensus for cognitive endpoints in MPS I, MPS II and MPS III. Such endpoints are absolutely essential for conducting clinical trials of potential treatments. The consensus conference will be held December 1-3, 2016 in London.
With support from 18 pharmaceutical companies, more than 80 doctors and psychologists from countries around the world will attend, including China, Egypt, Australia and Japan. The U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) are sending representatives who will present. The consensus proceedings and the selected consensus panel comprised of experts in MPS, statistics and psychological assessments will be facilitated by J.H. van der Lee, MD, PhD, of the Academic Medical Center, Amsterdam, Netherlands. Participants also include the Lysosomal Disease Network’s Dr. Chester Whitley, Dr. Igor Nestrasil and Dr. Julie Eisengart, all of the University of Minnesota. A paper will be published documenting the outcome.
The Secretary from the Department of Health and Human Services has provided final response to the ACHDNC for both X-ALD and MPS type I. She has agreed with the ACHDNC and has added both to the recommended uniform screening panel (letters here and here). The Minnesota Commissioner of Health will be notified as well so that this information can be used while he deliberates the recommendations made at the October meeting. This means that Minnesota, and a number of other states, will have the mandate to add MPS I to the newborn screening panel, each child born in the state being screened as a newborn infant.