A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2016 by Sanofi
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company )
ClinicalTrials.gov Identifier:
First received: November 26, 2013
Last updated: March 3, 2016
Last verified: March 2016

The primary objective of this study is to obtain data regarding the ongoing safety of recombinant human acid sphingomyelinase (rhASM) in patients with acid sphingomyelinase deficiency (ASD) who are exposed to long-term treatment with rhASM

The secondary objectives of this study are to obtain data regarding the efficacy of rhASM and to characterize rhASM pharmacodynamics and pharmacokinetics following long-term administration.

Condition Intervention Phase
Sphingomyelin Lipidosis
Drug: GZ402665
Phase 2

Study Type: Interventional
Study Design: Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: A Long-Term Study to Assess the Ongoing Safety and Efficacy of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency

Resource links provided by NLM:

Further study details as provided by Sanofi:

Primary Outcome Measures:
  • All Adverse events and Serious Adverse Events [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: Yes ]
    Number of patients experience AE

  • Physical examinations [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: Yes ]
  • Clinical laboratory tests [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: Yes ]
  • Safety biomarkers [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: Yes ]
  • Immune response assessments [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: Yes ]
  • Vital signs, echocardiogram and electrocardiogram [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: No ]
  • Continuous heart rate monitoring by telemetry (in-patients visits) [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:
  • Spleen and Liver Volume [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: No ]
  • Pulmonary imaging and function tests [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: No ]
  • Exercise capacity by cycle ergometry [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: No ]
  • Hematology [ Time Frame: Baseline to Week 272 ] [ Designated as safety issue: No ]

Estimated Enrollment: 70
Study Start Date: December 2013
Estimated Study Completion Date: August 2021
Estimated Primary Completion Date: August 2021 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: GZ402665
GZ402665 dose (0,3; 1,0 or 3,0 mg/kg body weight) once every 2 weeks for 5 years
Drug: GZ402665

Pharmaceutical form:Powder for concentrate for solution for infusion

Route of administration: intravenous infusion

Detailed Description:
One month screening + 60 months from the first dose + 30 to 37 days post study safety follow up

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Inclusion criteria :

  • The patient has completed the treatment period of a previous study of rhASM with an acceptable safety profile.
  • Negative serum pregnancy test.
  • Patients must practice true abstinence or use 2 effective forms of contraception

Exclusion criteria:

  • The patient is breast-feeding.
  • ALT or AST >250 IU/L or total bilirubin >1.5 mg/dL.
  • The patient is unwilling or unable to abstain from the use of alcohol for 1 day prior to and 3 days after each rhASM infusion for the duration of the study.
  • The patient requires medications that may decrease rhASM
  • Any new condition or worsening of an existing condition which in the opinionof the Investigator would make the patient unsuitable for enrollment, or could interfere with the patient participating in or completing the study.

The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02004704

Contact: For site information, send an email with site number to Contact-Us@sanofi.com

United States, New York
Investigational Site Number 840001 Recruiting
New York, New York, United States, 10029-6574
United Kingdom
Investigational Site Number 826001 Recruiting
London, United Kingdom, WC1N 3BG
Sponsors and Collaborators
Genzyme, a Sanofi Company
Study Director: Clinical Sciences & Operations Sanofi
  More Information

Responsible Party: Sanofi ( Genzyme, a Sanofi Company )
ClinicalTrials.gov Identifier: NCT02004704     History of Changes
Other Study ID Numbers: LTS13632  2013-000051-40  U1111-1141-65868 
Study First Received: November 26, 2013
Last Updated: March 3, 2016
Health Authority: United States: Food and Drug Administration

Additional relevant MeSH terms:
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Niemann-Pick Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Lipid Metabolism Disorders
Lymphatic Diseases
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Metabolic Diseases
Nervous System Diseases
Histiocytosis, Non-Langerhans-Cell
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on April 27, 2016