CClinicalTrials.gg
Sign In
CompletedNCT01722526Updated Jul 30, 2015

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

A Phase 1 interventional study of Recombinant human acid sphingomyelinase in Human Acid Sphingomyelinase Deficiency, sponsored by Genzyme, a Sanofi Company. Completed at 2 sites in 2 countries. Open to participants aged 18 Years to 65 Years. Per ClinicalTrials.gov, last updated 2015-07-30.

Sponsored by Genzyme, a Sanofi Company · Phase 1, Interventional, and Treatment

Phase
Phase 1
Study type
Interventional
Enrollment
5
Allocation
Not applicable
Ages
18 Years to 65 Years
Sex
All
01

Study summary

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

02

Conditions studied

  • Human Acid Sphingomyelinase Deficiency

Keywords

  • Human acid sphingomyelinase deficiency
03

In context

Niemann-Pick Diseases

54 studies on the registry are indexed under Niemann-Pick Diseases; 9 are open to participants now.

This study's enrollment of 5 is below the median of 25 across 34 interventional studies indexed under Niemann-Pick Diseases.

Browse Niemann-Pick Diseases studies →

Lead sponsor

Genzyme, a Sanofi Company is the lead sponsor of 303 studies on the registry; 5 are open to participants now.

Of its 24 completed or terminated interventional studies of FDA-regulated products, 19 (79%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years to 65 Years
Sexes eligible
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

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
05

Study design

Phase
Phase 1
Primary purpose
Treatment
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
5 participants (actual)

Study arms

  • 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

Interventions

  • DrugRecombinant human acid sphingomyelinase

    Administered intravenously every 2 weeks for 26 weeks

    Also known as: GZ402665

06

What researchers measure

Primary outcomes

  1. Summary of Adverse Events (AEs)

    Time frame: at least 26 weeks

Secondary outcomes

  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

07

Study locations

2 sites
  • Mount Sinai School of Medicine
    New York, New York, United States
  • St. Mary's Hospital
    Manchester, United Kingdom
08

References and documents

Publications

  • Thurberg BL, Diaz GA, Lachmann RH, Schiano T, Wasserstein MP, Ji AJ, Zaher A, Peterschmitt MJ. Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment. Mol Genet Metab. 2020 Sep-Oct;131(1-2):245-252. doi: 10.1016/j.ymgme.2020.06.010. Epub 2020 Jun 24. PubMed 32620536 ↗
  • Thurberg BL, Wasserstein MP, Jones SA, Schiano TD, Cox GF, Puga AC. Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. Am J Surg Pathol. 2016 Sep;40(9):1232-42. doi: 10.1097/PAS.0000000000000659. PubMed 27340749 ↗
  • Wasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL, Culm-Merdek K, Shamiyeh E, Inguilizian H, Cox GF, Puga AC. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol Genet Metab. 2015 Sep-Oct;116(1-2):88-97. doi: 10.1016/j.ymgme.2015.05.013. Epub 2015 May 30. PubMed 26049896 ↗
09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jul 30, 2015, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT01722526
Lead sponsor
Genzyme, a Sanofi Company
Responsible party
Sponsor
First posted
Nov 7, 2012
Start date
Mar 2013
Primary completion
Jan 2014
Completion
Jan 2014
Last update
Jul 30, 2015

Study contacts

Medical Monitor
study director · Genzyme, a Sanofi Company

Oversight

Data monitoring committee
Yes
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jul 2015. You cannot join it, but the record below documents what was studied.

Follow this study

Get an email when the registry record changes — status, dates, results — or when someone posts here.

Sign in to follow

Discussion

Questions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.

Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.

Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.

Other studies in this condition

Niemann-Pick Diseases→

Other studies from this sponsor

Genzyme, a Sanofi Company

Start the discussion