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Journal of Inherited Metabolic Disease

, Volume 32, Issue 2, pp 310–311 | Cite as

Re: Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study

  • Barbara E. Shapiro
  • Edwin H. Kolodny
  • Gregory M. Pastores
  • Cécile Luzy
Letter to the Editor

We read with interest the article by Elstein et al (2008) regarding the use of a computerized system to assess cognitive function as an outcome measure of therapeutic intervention in late-onset Tay–Sachs disease (LOTS). While cognitive function may indeed be a clinically relevant outcome measure in therapeutic trials in patients with LOTS, the paper by Elstein et al contains numerous inaccurate and misleading statements regarding a clinical trial we conducted using miglustat as substrate reduction therapy in patients with LOTS (Zavesca; Actelion Pharmaceuticals Ltd, Allschwil, Switzerland), which we would like to correct.

Elstein et al state, regarding our clinical trial, that patients were followed for 12 months, with clinical and computerized assessments focusing on potential changes in eye movement or speech patterns. They further state that our clinical trial was halted apparently owing to failure to achieve the primary endpoints, and no report has been published as yet. Patients...

Keywords

Cognitive Function Speech Pattern Miglustat Substrate Reduction Therapy Relevant Outcome Measure 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Elstein D, Doniger GM, Simon E, Korn-Lubetzki I, Navon R, Zimran A (2008) Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study. J Inherit Metab Dis 31(4): 518–523. doi: 10.1007/s10545-008-0884-z.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Barbara E. Shapiro
    • 1
  • Edwin H. Kolodny
    • 2
  • Gregory M. Pastores
    • 2
  • Cécile Luzy
    • 3
  1. 1.Neuromuscular Division, Department of Neurology, Neurological InstituteUniversity Hospitals Case Medical CenterClevelandUSA
  2. 2.Division of Neurogenetics, Department of NeurologyNew York University School of MedicineNew YorkUSA
  3. 3.Clinical Trial LeaderActelion Pharmaceuticals LtdAllschwilSwitzerland

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