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Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01722526
Recruitment Status : Completed
First Posted : November 7, 2012
Last Update Posted : July 30, 2015
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company )

Brief Summary:
To evaluate the safety, tolerability, pharmacokinetic, and pharmacodynamic profile of rhASM in adult patients with Acid Sphingomyelinase Deficiency (ASMD) following repeated-dose administration.

Condition or disease Intervention/treatment Phase
Human Acid Sphingomyelinase Deficiency Drug: Recombinant human acid sphingomyelinase Phase 1

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 5 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official 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)
Study Start Date : March 2013
Actual Primary Completion Date : January 2014
Actual Study Completion Date : January 2014

Arm Intervention/treatment
Experimental: Recombinant human acid sphingomyelinase
Participants will receive rhASM of an initial dose of 0.1 mg/kg, followed by several dose escalations, as tolerated, up to 3.0 mg/kg. All doses are given 2 weeks apart.
Drug: Recombinant human acid sphingomyelinase
Administered intravenously every 2 weeks for 26 weeks
Other Name: GZ402665

Primary Outcome Measures :
  1. Summary of Adverse Events (AEs) [ Time Frame: at least 26 weeks ]

Secondary Outcome Measures :
  1. Pharmacokinetics as measured by peak plasma concentration (Cmax), time to peak concentration (tmax), area under curve (AUC), half life (t1/2), drug clearance (CL), and volume of distribution (Vss) [ Time Frame: up to 26 weeks ]
  2. Pharmacodynamics as measured by liver and skin biopsies, plasma, and dried blood spot [ Time Frame: up to 26 weeks ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Patients with documented non-neuronopathic acid sphingomyelinase deficiency
  • The patient has a diffusing capacity of carbon monoxide (DLco) >20% and ≤80% of the predicted normal value.
  • The patient has a spleen volume ≥6 multiples of normal(MN). A partial splenectomy will be permitted if performed ≥1 year prior to Screening/Baseline and residual spleen volume is ≥6 MN.
  • The patient who is receiving lipid lowering therapy should be on a stable dose and regimen of lipid-lowering therapy(ies) for at least 12 weeks prior to Screening/Baseline, with the patient expected to remain on the same dose and regimen throughout the 26-week treatment period.
  • The patient who is female and of childbearing potential must have a negative serum pregnancy test for β-HCG.

Exclusion Criteria:

  • The patient is female and pregnant or lactating.
  • The patient has a Body Mass Index(BMI)>30.
  • The patient has received an investigational drug within 30 days prior to study enrollment
  • The patient has a medical condition or any extenuating circumstance that may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities.
  • The patient has had a major organ transplant
  • 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
  • The patient is unwilling or unable to avoid the use of medications or herbal supplements that may cause or prolong bleeding, or have potential hepatotoxicity within 10 days prior to and 3 days after liver biopsy

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01722526

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United States, New York
Mount Sinai School of Medicine
New York, New York, United States
United Kingdom
St. Mary's Hospital
Manchester, United Kingdom
Sponsors and Collaborators
Genzyme, a Sanofi Company
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Study Director: Medical Monitor Genzyme, a Sanofi Company
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Genzyme, a Sanofi Company
ClinicalTrials.gov Identifier: NCT01722526    
Other Study ID Numbers: DFI13412
2012-003542-32 ( EudraCT Number )
SPHINGO00812 ( Other Identifier: Genzyme )
First Posted: November 7, 2012    Key Record Dates
Last Update Posted: July 30, 2015
Last Verified: July 2015
Keywords provided by Sanofi ( Genzyme, a Sanofi Company ):
Human acid sphingomyelinase deficiency
Additional relevant MeSH terms:
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Niemann-Pick Disease, Type A
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Histiocytosis, Non-Langerhans-Cell
Lymphatic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders