NCT00410566

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

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

• Status: Terminated
• Phase: Phase 1
• Study type: Interventional
• Enrollment: 11 (actual)
• Sponsor: Genzyme, a Sanofi Company · Industry
• Sex: All
• Age: 18 Years – 65 Years
• Healthy volunteers: Not accepted

Summary

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

Detailed description

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.

Conditions

• Acid Sphingomyelinase Deficiency
• Niemann-Pick Disease

Interventions

Type	Name	Description
DRUG	rhASM	Single dose of 0.03mg/kg body weight IV
DRUG	rhASM	Single dose of 0.1mg/kg body weight IV
DRUG	rhASM	Single dose of 0.3mg/kg body weight IV
DRUG	rhASM	Single dose of 0.6mg/kg body weight IV
DRUG	rhASM	Single dose of 1.0mg/kg body weight IV

Timeline

• Start date: 2006-12-01
• Primary completion: 2009-03-01
• Completion: 2009-04-01
• First posted: 2006-12-13
• Last updated: 2015-03-19

Locations

1 site across 1 country: United States