WASHINGTON, DC—Improving newborn screening for rare diseases requires a long and collaborative process, according to experts who spoke at the National Organization for Rare Disorders’ Rare Disease and Orphan Products Breakthrough Summit.

The session, led by Mike Hu, California Volunteer State Ambassador, NORD Rare Action Network, explored current topics dealing with newborn screening.

Jeffrey Brosco, MD, PhD, director of the division of services for children with special healthcare needs at the US Department of Health and Human Services’ Health Resources and Services Administration, said there’s a long history of health professionals, scientists, families, and advocates working together to solve problems for rare diseases.

Brosco said newborn screening involves checking every newborn to make sure they don’t have specific conditions, so that if they do, treatment can start early to prevent long-term morbidity and mortality. He explained there is an evidence review process that includes the voice of the family, scientists and advocates, and health professionals that determines whether there is enough evidence to support screening a newborn for a particular condition.

He also mentioned there is an independent systematic review of the literature that looks at every aspect of the condition and its treatment and screening, and then committee members and leadership decide whether or not it should be on the screening panel.

Ekaterina Wright, of Takeda Pharmaceuticals, provided an example of this process in mucopolysaccharidosis type II (MPS II). Wright said that in researching MPS II she and her colleagues identified the need for a patient registry, a newborn screening program to identify patients at an early stage in life, diagnostic assays to eliminate pseudo deficiencies, and treatment of central nervous system conditions.

Wright said the researchers started a database for MPS II, an international registry currently with more than 1500 patients, of whom about 300 patients are in the US. The registry was helpful in gathering data on the natural history of the disease as well as safety data. The company took the next step and supported the development of diagnostic assays.

Wright said the next step was to do pilot studies and collaborate with a working group. After a thorough systematic review process, MSP II was approved for inclusion in the Recommended Uniform Screening Panel (RUSP), Wright said.

She explained that the public policy adoption of newborn screening occurs over 4 stages focused on: the development of cases for newborn screening in a particular disorder of interest, prospective population-based pilot research, RUSP nomination and approval, and implementation.

Reference

Newborn screening and rare diseases: an update and case study. Presented at: National Organization for Rare Disorders’ Rare Disease and Orphan Products Breakthrough Summit; October 18, 2022; Washington, DC.