Clinical Trial: Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)

Study Status: Terminated
Recruit Status: Terminated
Study Type: Interventional

Official Title: A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD)

Brief Summary: The purpose of this study is to determine the safe range of single doses of rhASM administered to adults with ASM deficiency.

Detailed Summary: ASM deficiency (ASMD), also known as Niemann-Pick A and B disease, is a rare genetic disorder in which reduced activity of the lysosomal enzyme, ASM, leads to the accumulation of sphingomyelin primarily in macrophages throughout the body. This deficiency results in characteristic features such as hepatosplenomegaly, thrombocytopenia, interstitial lung disease, growth retardation, coronary artery disease, fatigue, and in severe cases, neurodegeneration with death in early childhood. There is no specific treatment for this disease. This Phase 1 safety study will seek to enroll a minimum of 12 and a maximum of 30 eligible adults patients with ASMD with each patient participating for approximately 7 weeks.
Sponsor: Genzyme, a Sanofi Company

Current Primary Outcome:

  • Safety assessments via physical exam,AE reporting,telemetry heartrate monitoring,ECG,ECHO,clinical lab evaluations,liver and adrenal function tests,cytokine testing,adrenal hormone levels,lipid profile,chest Xrays,liver biopsies,MRI of internal [ Time Frame: Pre-, During-, and Post-infusion (up to 72 hrs); 14 day and 28 day follow-up visit ]
  • Immune Response Measure [ Time Frame: Pre-infusion and final visit (Day 28) ]


Original Primary Outcome: To evaluate the safety of ascending doses or rhASM administered as a single dose to adults with ASMD.

Current Secondary Outcome: PK measurements [ Time Frame: Pre- and Post-infusion up to 72 hrs. ]

Original Secondary Outcome: To evaluate the single-dose pharmacokinetics (PK) of rhASM.

Information By: Sanofi

Dates:
Date Received: December 11, 2006
Date Started: December 2006
Date Completion:
Last Updated: March 17, 2015
Last Verified: March 2015