DFI13412 - Tolerability and safety of rhASM in Niemann-Pick patients

• Research type

  Research Study

• Full title

  An open-label, multicenter, ascending dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with acid sphingomyelinase deficiency (ASMD)

• IRAS ID

  113589

• Contact name

  simon jones

• Sponsor organisation

  Genzyme Europe B.V, The Netherlands

• Eudract number

  2012-003542-32

• ISRCTN Number

  n/a

• Clinicaltrials.gov Identifier

  n/a

• Research summary

  Niemann Pick disease (NPD) is a serious and life-threatening disorder for which there is no safe and effective treatment to improve the symptoms or reverse the disease course. In this disorder, a genetic defect results in the enzyme acid sphingomyelinase (ASM) not being produced and thus the 50-fold increase in sphingomyolin levels which then accumulates in organs such as the liver, spleen, lung and bone marrow leading to dysfunction.

• REC name

  South Central - Berkshire Research Ethics Committee

• REC reference

  12/SC/0652

• Date of REC Opinion

  21 Dec 2012

• REC opinion

  Further Information Favourable Opinion