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for people ages 18 years and up (full criteria)
at San Francisco, California and other locations
study started
estimated completion:



Primary Objective: The primary objective of this phase 2/3 study is to evaluate the efficacy of olipudase alfa (recombinant human acid sphingomyelinase) administered intravenously once every 2 weeks for 52 weeks in adult patients with acid sphingomyelinase deficiency (ASMD) by assessing changes in 1) spleen volume as measured by abdominal magnetic resonance imaging (MRI) (and, for the United States [US] only, in association with patient perception related to spleen volume as measured by splenomegaly related score (SRS)); and 2) infiltrative lung disease as measured by the pulmonary function test, diffusing capacity of the lung for carbon monoxide (DLCO). Secondary Objectives: - To confirm the safety of olipudase alfa administered intravenously once every 2 weeks for 52 weeks. - To characterize the effect of olipudase alfa on the patient perception related to spleen volume as measured by the SRS after 52 weeks of study drug administration. (For the US, the effect of olipudase alfa on the splenomegaly related score is part of the primary objective). - To characterize the effect of olipudase alfa after 52 weeks of study drug administration on the following endpoints assessed sequentially: - The effect of olipudase alfa on liver volume; - The effect of olipudase alfa on platelet count; - The effect of olipudase alfa on fatigue; - The effect of olipudase.alfa on pain; - The effect of olipudase alfa on dyspnea.

Official Title

A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency


The total duration per patient is at least 3 years and up to 5 years and 3 months. This includes up to approximately two month of screening, 52 weeks of primary analysis period, up to 4 years of extension treatment period, an end-of- study visit within 2 weeks of the last treatment, and a safety follow- up 30 to 37 days after the last treatment.

The study will be divided into 2 consecutive major periods: 1) a randomized placebo-controlled, double-blinded primary analysis period (PAP) from day -60 to week 52, which will be followed by 2) an extension treatment period (ETP) that will last up to 4 years and 1 month and during which all patients will receive olipudase alfa.


Sphingomyelin Lipidosis Lipidoses Niemann-Pick Disease, Type A Niemann-Pick Diseases Niemann-Pick Disease, Type C


You can join if…

Open to people ages 18 years and up

  • The patient is willing and able to provide signed written informed consent.
  • The patient is male or female aged 18 years or older.
  • The patient has documented deficiency of acid sphingomyelinase as measured in peripheral leukocytes, cultured fibroblasts, or lymphocytes; and a clinical diagnosis consistent with Niemann-Pick disease type B (NPD B).
  • The patient has diffuse capacity of the lung for carbon monoxide ≤70% of the predicted normal value.
  • The patient has a spleen volume ≥6 multiples of normal (MN) measured by MRI; patients who have had partial splenectomy will be allowed if the procedure was performed ≥1 year before screening/baseline and the residual spleen volume is ≥6 MN.
  • The patient has a mean SRS of at least 5.
  • Female patients of childbearing potential must have a negative serum pregnancy test for beta-human chorionic gonadotropin (β-HCG).
  • Female patients of childbearing potential and male patients must be willing to practice true abstinence in line with their preferred and usual lifestyle, or use 2 acceptable effective methods of contraception for up to 15 days following their last dose of study drug.

You CAN'T join if...

  • The patient has received an investigational drug within 30 days before study enrollment.
  • The patient has a medical condition, including significant intercurrent illness;significant cardiac disease (e.g., clinically significant arrhythmia, moderate or severe pulmonary hypertension or valvular dysfunction, or <40% left ventricular ejection fraction by echocardiogram); active hepatitis B or hepatitis C, or infection with human immunodeficiency virus (HIV); cirrhosis (as determined by clinical evaluation or liver biopsy); malignancy diagnosed within the past 5 years (other than basal cell carcinoma), or any other extenuating circumstance that may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities.
  • The patient has a platelet count <60,000/μL.
  • The patient has an international normalized ratio (INR) >1.5.
  • The patient has alanine aminotransferase (ALT) or aspartate aminotransferase (AST)>250 IU/L or total bilirubin >1.5 mg/dL (except for patients with Gilbert's syndrome).
  • The patient has had a major organ transplant (e.g., bone marrow or liver).
  • The patient is scheduled during the study for in-patient hospitalization including elective surgery and excluding the liver biopsies required per protocol.
  • The patient, in the opinion of the investigator, is unable to adhere to the requirements of the study.
  • The patient is unwilling or unable to abstain from the use of alcohol for 1 day before and 3 days after each study drug infusion. Testing for blood alcohol levels will not be required.
  • The patient is unwilling or unable to avoid 10 days before and 3 days after the protocol scheduled liver biopsies the use of medications or herbal supplements that are potentially hepatotoxic (e.g., 3-hydroxy-3-methyl glutaryl coenzyme A reductase inhibitors, erythromycin, valproic acid, anti-depressants, kava, echinacea) and/or may cause or prolong bleeding (e.g., anti-coagulants, ibuprofen, aspirin, garlic supplements, ginkgo, ginseng).
  • The patient requires medications that may decrease olipudase alfa activity (eg,fluoxetine, chlorpromazine, tricyclic antidepressants [e.g., imipramine, or desipramine]).
  • The patient requires use of invasive ventilatory support.
  • The patient requires use of noninvasive ventilator support while awake for longer than 12 hours daily.
  • The patient is breast-feeding.

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


  • Investigational Site Number 840005 accepting new patients
    San Francisco, California, 94143, United States
  • Investigational Site Number 840004 accepting new patients
    Minneapolis, Minnesota, 55455, United States
  • Investigational Site Number 840003 accepting new patients
    Decatur, Georgia, 30033, United States
  • Investigational Site Number 840006 accepting new patients
    The Bronx, New York, 10467, United States
  • Investigational Site Number 826002 accepting new patients
    Birmingham, B15 2TH, United Kingdom
  • Investigational Site Number 826001 accepting new patients
    London, WC1N 3JZ, United Kingdom
  • Investigational Site Number 392001 in progress, not accepting new patients
    Fukushima-Shi, Japan
  • Investigational Site Number 076001 accepting new patients
    Porto Alegre, 90035 003, Brazil
  • Investigational Site Number 528001 accepting new patients
    Amsterdam, 1105 AZ, Netherlands
  • Investigational Site Number 620001 accepting new patients
    Coimbra, 3000-075, Portugal
  • Investigational Site Number 620002 accepting new patients
    Porto, 4099-001, Portugal
  • Investigational Site Number 250001 accepting new patients
    Paris, 75020, France
  • Investigational Site Number 276001 accepting new patients
    Mainz, 55131, Germany
  • Investigational Site Number 152001 accepting new patients
    Santiago, 753-0204, Chile
  • Investigational Site Number 724001 accepting new patients
    Madrid, 28034, Spain
  • Investigational Site Number 380002 accepting new patients
    Napoli, 80131, Italy
  • Investigational Site Number 380001 accepting new patients
    Udine, 33100, Italy
  • Investigational Site Number 792002 accepting new patients
    Ankara, 06500, Turkey
  • Investigational Site Number 792001 accepting new patients
    Izmir, 35040, Turkey
  • Investigational Site Number 036001 accepting new patients
    Westmead, 2145, Australia


accepting new patients
Start Date
Completion Date
Genzyme, a Sanofi Company
Phase 2/3
Study Type
Last Updated
October 10, 2017
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