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

Niemann-Pick Disease Clinical Trial

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)

Status Terminated

Clinical Trial Summary

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

Clinical Trial 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. ;

Study Design

Allocation: Non-Randomized, Endpoint Classification: Safety Study, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

• Acid Sphingomyelinase Deficiency
• Aphasia, Primary Progressive
• Frontotemporal Dementia
• Niemann-Pick Disease
• Niemann-Pick Disease, Type C
• Niemann-Pick Diseases
• Pick Disease of the Brain

• NCT number: NCT00410566
• Study type: Interventional
• Source: Sanofi
• Status: Terminated
• Phase: Phase 1
• Start date: December 2006
• Completion date: April 2009