Newborn screening of mucopolysackaridosis type 1

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Ongoing Projects

SBU assess relevant and well-conducted research and investigate what effect different interventions have, if there are any risks or ethical problems, and what is most cost-effective in the areas of health care, dentistry, social services, and within the areas of functional disability and work environment.

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Planned to be published: Quarter 3, 2026

Background

The Swedish National Board of Health and Welfare is investigating whether mucopolysackaridosis type 1 should be included in the newborn screening program, with PKU screening test. SBU has thus been asked to assess 2 of the 15 assessment criteria that are applied when screening programs are put in place. The concerned criteria are criteria number 4 (that an appropriate screening method must be available) and number 5 (that earlier stage interventions must be more effective than interventions after clinical discovery).

Aim

SBU is to assess the reliability of screening methods of mucopolysackaridosis type 1 (PKU screening test), and the effect of the two treatment options currently available in Sweden: hematopoietic stem cell transplantation and enzyme therapy.

Project group

Experts

  • Niklas Darin, PhD
  • Veroniqa Lundbäck, PhD

From SBU

  • Hanna Norsted, Project manager
  • Fanny Sellberg, Assistant project manager
  • Hanna Olofsson, Information specialist
  • Maria Hoppe, Project administrator
  • Jenny Odeberg, Head of Unit
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