Acid sphingomyelinase deficiency / Niemann Pick B Disease
Full Study Name
A phase 1/2, multi-center, open-label, ascending dose study to evaluate the safety,tolerability, pharmacokinetics, pharmacodynamics and exploratory efficacy of olipudase alfa in pediatric patients aged <18 years with acid sphingomyelinas deficiency.
Sanofi – Genzyme
Local Principal Investigator
To evaluate the safety and tolerability of olipudase alfa administered intravenously in pediatric patients every 2 weeks for 64 weeks.
- The patient is male or female <18 years of age on the date of informed assent/consent.
- The patient has documented deficiency of acid sphingomyelinase as measured in peripheral leukocytes, cultured fibroblasts, or lymphocytes.
- The patient has a spleen volume ≥5 multiples of normal (MN) measured by magnetic resonance imaging( MRI); patients who have had partial splenectomy will be allowed if the procedure was performed ≥1 year before screening and the residual spleen volume is ≥5 MN.
- The patient’s height is -1 Z-score or lower.
- A negative serum pregnancy test in female patients of childbearing potential.
- 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.
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- The patient has received an investigational drug within 30 days before study enrollment.
- The patient has any of the following medical conditions:
- An active, serious, intercurrent illness;
- Active hepatitis B or hepatitis C infection;
- Infection with human immunodeficiency virus (HIV);
- Cirrhosis (determined by clinical evaluation):
- Significant cardiac disease (eg, clinically significant arrhythmia, moderate or severe pulmonary hypertension or valvular dysfunction, or <40% left ventricular ejection fraction by echocardiogram);
- Malignancy diagnosed within the previous 5 years (except basal cell carcinoma);
- Any other extenuating circumstance that can significantly interfere with study compliance, including all prescribed evaluations and follow-up activities.
- The patient has acute or rapidly progressive neurological abnormalities.
- The patients is homozygous for SMPD1 gene mutations R496L, L302P, and fs330 or any combination of these 3 mutations.
- The patient has a delay of gross motor skills.
- The patient has had a major organ transplant (eg, bone marrow, liver).
- The patient requires use of invasive ventilatory support.
- The patient requires use of noninvasive ventilatory support while awake and for >12 hours a day.
- The patient, in the investigator’s opinion, is unable to adhere to the requirements of the study.
- The patient has a platelet count <60 × 103/μL (based on the average of 2 screening samples obtained greater than 24 hours apart).
- The patient has alanine aminotransferase or aspartate aminotransferase >250 IU/L or total bilirubin >1.5 mg/dL.
- The patient has an international normalized ratio (INR) >1.5..
- The patient is unwilling or unable to abstain from ingesting alcohol the day before through 3 days after each infusion of olipudase alfa during the treatment period. Measuring alcohol concentration in blood is not required.
- The patient is scheduled during the study for in-patient hospitalization including elective surgery
- The patient requires medication(s) that may decrease olipudase alfa activity (eg, fluoxetine, chlorpromazine; tricyclic antidepressants [eg, imipramine, or desipramine]).
- The patient is breast-feeding.