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Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort study

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Objectives

To determine the effectiveness of enzyme replacement therapies (ERT) for adults with Gaucher disease (GD).

Design

A longitudinal, multi-centre cohort study, including prospective and retrospective clinical data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Treated patients contributed data before and during treatment. Untreated patients contributed natural history data.

Participants

Consenting adults (N = 150, aged 16 to 83 years) with a diagnosis of GD who attended a specialist treatment centre in England. At recruitment, 131 patients were receiving ERT (mean treatment duration, 10.8 years; range 0–18 years).

Outcome measures

Clinical outcomes chosen to reflect disease progression, included platelet count; haemoglobin; absence/presence of bone pain; spleen and liver volumes and AST levels.

Results

One hundred and fifty adults were recruited. Duration of ERT was associated with statistically significant improvements in platelet count (p < 0.001), haemoglobin (p < 0.001), liver and spleen volumes (p < 0.001) and AST levels (p = 0.02).

Conclusions

These data provide further evidence of the long-term effectiveness of ERT in adults with GD.

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Acknowledgments

We thank study site personnel Marie Meehan, Andrea Hill, Debbie Hugh, Sarah West, Sandhya Maddukuri, Kate Blackler, Hannah Russon, Navneeta Reddy, Jennifer Hutchinson, Nike Aina and Noura Hamdi for their hard work in the recruitment of patients to this study, and in managing the patients’ data at each of the seven sites. We thank the late Ed Wraith, Patrick Deegan, Tim Cox, Chris Hendriksz, Philip Lee, Uma Ramaswami, Ashok Vellodi, Robin Lachmann, Atul Mehta, Simon Jones and Tanya Collin-Histed for their contribution to the design and conduct of the study. Thanks to Rob Anderson for his contribution to the design of the study and data collection forms, to Sheena Oxer and Louise Klinger for their contribution to the set-up and coordination of the study, and to Laura Cocking for her help in the design and the management of the databases throughout the study.

We are grateful to all members of the LSD patient support groups and the Trial Steering Committee. Finally, special thanks to the patients and their families who allowed us to collect information from their hospital records and gave their time to complete the questionnaires. We thank them for their invaluable contribution.

Funding

This study was funded by a National Institute for Health Research Health Technology Assessment programme project grant (No: 05/04/01).ᅟ

Competing interest

Lindsey Anderson, Katrina Wyatt, Stuart Logan, Vasilis Nikolaou and William Henley declare that they have no conflicts of interest.

Derralynn Hughes has received funding for research and travel to meetings, honoraria for lectures and consultancy projects or advisory boards from Shire HGT, Genzyme, Amicus, Actelion, and Biomarin. Consultancy and advisory board work is administered via UCL business and used in part to fund research.

Stephen Waldek is a member of the Fabry Registry Board and the Fabry Expert Group and has received funding for research, and honoraria for lectures and consultancy on research studies from Shire HGT and Genzyme. He has also received research grants from Biomarin, Synageva and Amicus.

Author information

Authors and Affiliations

  1. Institute of Health Research, University of Exeter Medical School, Veysey Building, Salmon Pool Lane, Exeter, Devon, UK, EX2 4SG

    L. J. Anderson, W. Henley, K. M. Wyatt, V. Nikolaou & S. Logan

  2. Department of Haematology, Royal Free Campus, University College, London, UK

    D. A. Hughes

  3. Salford Royal NHS Foundation Trust, Salford, UK

    S. Waldek

Authors
  1. L. J. Anderson
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  2. W. Henley
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  3. K. M. Wyatt
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  4. V. Nikolaou
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  5. D. A. Hughes
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  6. S. Waldek
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  7. S. Logan
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Corresponding author

Correspondence to K. M. Wyatt.

Additional information

Communicated by: Frits Wijburg

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Anderson, L.J., Henley, W., Wyatt, K.M. et al. Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort study. J Inherit Metab Dis 37, 953–960 (2014). https://doi.org/10.1007/s10545-014-9680-0

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  • DOI: https://doi.org/10.1007/s10545-014-9680-0

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