Familial Chylomicronemia Syndrome (FCS)
Conditions
Interventions
All patients will receive volanesorsen 300 mg once per week for 52 weeks.
Sponsors
Akcea Therapeutics
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Must give written informed consent to participate in the study (signed and dated) and any authorizations required by law 2. Age >= 18 years at time of informed consent 3. Group 1 and 2: Satisfactory completion of ISIS 304801-CS6 or ISIS 304801-CS16 (index studies) with an acceptable safety profile, per Sponsor and Investigator judgement. ;Group 2: Patients who enrolled in ISIS 304801-CS16 must also meet the following criteria in order to enter into the open-label Study: a. History of chylomicronemia as evidenced by documentation of lactescent serum (a creamy top layer after ultracentrifugation of a fasting blood sample) or documentation of fasting TG measurement >= 880 mg/dL (10 mmol/L) b. A diagnosis of Familial Chylomicronemia Syndrome (Type 1 Hyperlipoproteinemia) by documentation of at least one (1) of the following: • Confirmed homozygote, compound heterozygote or double heterozygote for known loss-of-function mutations in Type 1-causing genes (such as LPL, apoC-II, GPIHBP1, or LMF1) • Post heparin plasma LPL activity of = 750 mg/dL (8.4 mmol/L) at Qualification for the ISIS 304801-CS16 study 4. Able and willing to participate in a 65-week study 5. Satisfy one (1) of the following: a. Females: Non-pregnant and non-lactating; surgically sterile (e.g., tubal occlusion, hysterectomy, bilateral salpingectomy, bilateral oophorectomy), post-menopausal (defined as 12 months of spontaneous amenorrhea in females > 55 years of age or, in females
Exclusion criteria
Exclusion criteria: • Have any new condition or worsening of existing condition which in the opinion of the Investigator would make the patient unsuitable for enrollment, or could interfere with the patient participating in or completing the study Unwilling to comply with lifestyle requirements for the duration of the study (protocol section 6.3)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety Endpoints: • Adverse events including adjudicated events of acute pancreatitis and MACE • Vital signs and weight • Physical examinations • Clinical laboratory tests (serum chemistry, hematology, coagulation, urinalysis) • Echocardiography • Electrocardiograms (ECGs) • Use of concomitant medications • MRIs Efficacy Endpoints: • Percent change and absolute change from baseline in fasting TG • Frequency and severity of patient reported abdominal pain during the treatment period • Percent change and change from baseline in other fasting lipid measurements including total cholesterol, non-high-density lipoprotein cholesterol (non-HDL-C), apolipoprotein B [apoB], high-density lipoprotein-cholesterol (HDL-C), apolipoprotein A-1 [apoA-1], very-low-density lipoprotein-cholesterol (VLDL-C), and LDL-C • Percent change from baseline in fasting total apolipoprotein C-III (apoC-III) • Quality of Life questionnaires (EQ-5D, SF-36) • Adjudicated acute pancreatitis event rate • Other symptoms: eruptive xanthoma, lipemia retinalis | — |
Countries
Netherlands
Outcome results
None listed