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High Content Screening in Neurodegenerative Diseases
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Newborn screening for hunter disease: a small-scale feasibility study.

G J G Ruijter1, D A Goudriaan, A M Boer

  • 1Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Ee2422, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands, g.ruijter@erasmusmc.nl.

JIMD Reports
|November 26, 2013
PubMed
Summary

Newborn screening for Hunter disease (Mucopolysaccharidosis type II) is feasible using a fluorometric assay on dried blood spots. Early identification via newborn screening can enable timely intervention before neurological symptoms manifest.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Hunter disease (Mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disorder resulting from iduronate-2-sulfatase (IDS) deficiency.
  • Current therapies like enzyme-replacement therapy (ERT) and hematopoietic stem-cell transplantation (HSCT) show limited efficacy in improving cognitive outcomes.
  • Early intervention before neurological symptom onset is crucial for potentially altering cognitive outcomes in MPS II patients.

Purpose of the Study:

  • To evaluate a fluorometric assay for high-throughput analysis of IDS activity in dried blood spots (DBS) for newborn screening (NBS).
  • To determine the feasibility and potential recall rate of NBS for Hunter disease.

Main Methods:

  • A fluorometric assay was developed for high-throughput IDS activity analysis in DBS.
  • IDS activity was measured in 1,426 newborn DBS samples, with a cutoff set at 20% of the median value.
  • Quality control samples and a known MPS II sample were included to validate assay performance.

Main Results:

  • The median IDS activity in newborns was 377 pmol/punch/17 h.
  • A recall rate of 0.07% was estimated based on the defined cutoff.
  • Assay precision demonstrated coefficients of variation between 12% and 16% for quality control samples.

Conclusions:

  • Newborn screening for Hunter disease using a fluorometric DBS assay is technically feasible.
  • The assay demonstrated a low recall rate, suggesting its suitability for NBS programs.
  • Early identification of infants with Hunter disease through NBS can facilitate timely intervention and potentially improve outcomes.