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A disease severity scoring system for children with type 1 Gaucher disease

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Abstract

Almost half of patients with Gaucher disease are diagnosed by the age of 10 years, and approximately two thirds are diagnosed by the age of 20 years. Besides symptomatic children, some presymptomatic children are being diagnosed through community screening programs and because of affected siblings. In addition, it is anticipated that in the near future, newborn screening for lysosomal diseases such as Gaucher disease will be introduced in the USA, identifying additional pre/nonsymptomatic children. Currently, there is no severity scoring system for children. A validated disease severity scoring system in the pediatric Gaucher population will be essential for classifying disease severity in these children, monitoring their disease progression, making decisions about when to treat them, and monitoring disease improvement with therapy. A severity scoring system will also be helpful in comparing therapeutic options as new therapies are designed. Therefore, a Pediatric Gaucher Severity Scoring System (PGS3) was devised using expert opinion and validated in 26 patients with type 1 Gaucher disease. The PGS3 correlates well with disease severity in patients at diagnosis and over time. Conclusion: A practical system that will help clinical management, based on signs and symptoms in children with type 1 Gaucher disease, is presented.

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Acknowledgments

This work was supported by a training grant to S. Kallish from the Genzyme Corporation, which did not participate in the formulation of this scoring system. The authors thank the GD experts who evaluated the PGS3 in the development process: Hans Andersson, MD; Manisha Balwani, MD; Joe Clarke, MD, PhD; Priya Kishnani, MD; and Neal Weinreb, MD. We also thank Sarah Kulke, MD (medical director), and J. Alexander Cole, DSc, MPH, (epidemiologist), from Genzyme Corporation for their assistance with this work and Can Ficicioglu, MD, PhD, and Jaya Ganesh, MD, Children's Hospital of Philadelphia for providing us with additional pediatric GD patients data to analyze in our study.

Conflict of interest

Dr Kallish was the recipient of a clinical training fellowship from the Genzyme Corporation; Dr Kaplan is a member of the Board of Advisors for the International Collaborative Gaucher Registry (ICGG) for which she receives honoraria; she had been the recipient of an unrestricted educational grant from the Genzyme Corporation.

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Authors and Affiliations

  1. Division of Genetics and Metabolism, Department of Pediatrics, Floating Hospital for Children at Tufts Medical Center, Boston, MA, USA

    Staci Kallish

  2. Children’s Hospital of Philadelphia, Metabolism–CTRB 9th floor, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA

    Paige Kaplan

  3. Division of Metabolism, Children’s Hospital of Philadelphia, Colket Translational Research Building, 9th floor, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA

    Paige Kaplan

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  1. Staci Kallish
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  2. Paige Kaplan
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Correspondence to Paige Kaplan.

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Kallish, S., Kaplan, P. A disease severity scoring system for children with type 1 Gaucher disease. Eur J Pediatr 172, 39–43 (2013). https://doi.org/10.1007/s00431-012-1830-5

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  • DOI: https://doi.org/10.1007/s00431-012-1830-5

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