ASMD Retrospective EU Chart Review

• Research type

  Research Study

• Full title

  Natural History of Acid Sphingomyelinase Deficiency (ASMD) among European Patients during Childhood and Adolescence: a retrospective observational study

• IRAS ID

  266349

• Contact name

  Lubomyra Nalysnyk

• Contact email

  lubomyra.nalysnyk@sanofi.com

• Sponsor organisation

  Sanofi Genzyme

• Clinicaltrials.gov Identifier

  GZA94307, IQVIA Project Code

• Duration of Study in the UK

  0 years, 9 months, 14 days

• Research summary

  Acid sphingomyelinase deficiency (ASMD) is an ultra-rare, autosomal recessive, lysosomal storage disease with no disease-modifying treatment available to date. The combined lethality and rarity underscore the urgency and challenges to understanding the natural history of ASMD. A retrospective study using real-world data from medical records allows researchers to analyze the existing, clinically-valid information that has been collected on the limited number of ASMD patients. This study on the natural history of ASMD will provide insights into the disease progression, clinical manifestations, and care of this complex disease during childhood and adolescence.

• REC name

  East Midlands - Nottingham 1 Research Ethics Committee

• REC reference

  19/EM/0271

• Date of REC Opinion

  13 Aug 2019

• REC opinion

  Favourable Opinion