TerminatedPhase 1

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

Stopped: Terminated by sponsor - Single dose safety objective achieved.

United States11 participantsStarted 2006-12

Plain-language summary

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

Who can participate

Age range

18 Years – 65 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Signed, informed consent by the patient or legal guardian prior to performing any study-related procedures; * Have ≤ 0.2 nmol/hr/mg protein ASM activity in peripheral leukocytes, as measured by the reference laboratory; * Have a diffusing capacity (DLco) \> 30% of the predicted normal value; * Have a spleen volume ≥ 2x normal * Female patients of childbearing potential must have a serum pregnancy test negative for β-hCG and agree to use a reliable birth control method for the duration of the study. Exclusion Criteria: * Is pregnant or lactating; * Has received an investigational drug within 30 days prior to study enrollment; * Has a medical condition, including serious intercurrent illness, active hepatitis B or C or human immunodeficiency virus (HIV) infection, cirrhosis, \> stage 3 liver fibrosis, INR \>1.5, platelet count \< 60.0x10\^3/µL, significant cardiac disease (e.g. pulmonary artery pressure \> 40 mm Hg, moderate or severe valvular dysfunction, or \< 40% left ventricular ejection fraction by echocardiography (ECHO)), or any other extenuating circumstances that may significantly interfere with study compliance including all prescribed evaluations and follow-up activities; * Has had a major organ transplant (e.g. bone marrow or liver); * Has had a total splenectomy; * Has an alanine aminotransferase (ALT) or aspartate aminotransferase (AST) value \>250 IU/L or a total bilirubin \>3.6 mg/dL; * Is unwilling or unable to avoid the use of alcohol,…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Safety assessments via physical exam,AE reporting,telemetry heartrate monitoring,ECG,ECHO,clinical lab evaluations,liver and adrenal function tests,cytokine testing,adrenal hormone levels,lipid profile,chest Xrays,liver biopsies,MRI of internal

Timeframe: Pre-, During-, and Post-infusion (up to 72 hrs); 14 day and 28 day follow-up visit

Immune Response Measure

Timeframe: Pre-infusion and final visit (Day 28)

Trial details

NCT IDNCT00410566

SponsorGenzyme, a Sanofi Company

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

Primary completion2009-03

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