Homozygous familial hypercholesterolemia
Conditions
Interventions
After Day 1 (baseline), patients will receive iv evinacumab 15 mg/kg every 4 weeks at the
study site.
Sponsors
Makino Hisashi
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Male and female patients with HoFH aged 12 years and older. 2. Patinet can be diagnosed with functional HoFH by at least one of the following genotyping or clinical criteria a. One or more functional mutations have been identified in both LDLR alleles. Note: Patients with null receptor mutations (double null) in both LDLR alleles are eligible. b. Homozygous or compound heterozygous mutations are present in Apo B or PCSK9. Note: Patients who are double heterozygous, i.e., have mutations in different genes (e.g., LDLR/PCSK9) and homozygous LDLRAP1 mutations are eligible. c. Untreated TC > 500 mg/dL (12.93 mmol/L) and TG < 300 mg/dL (3.39 mmol/L). The parents' TC is greater than 250 mg/dL (6.47 mmol/L). , or the patient has skin or tendon xanthomas before the age of 10 years. 3. The patient participates in the main clinical trial. 4. Patients who are willing and able to comply with the study visit and study-related procedures. 5.Patients who provide a signed consent form.
Exclusion criteria
Exclusion criteria: 1. Significant deviations from the study protocol in previous trials (e.g., noncompliance by the subject), as determined by the investigator or others 2. Inconsistent concomitant medications and concomitant therapies prior to the baseline visit 3. Occurrence of adverse events leading to discontinuation in a previous clinical trial 4. The development of a new condition or worsening of an existing condition that is judged by the investigator or others to render the subject unfit for enrollment or to be a potential obstacle to the subject's participation in or completion of the clinical trial 5. Patients who are members of the investigational team at the site and/or their immediate family members 6. Pregnant or lactating women.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The incidence and severity of adverse eventsoccurring under the investigational treatment observed during the open-label period in patients treated with IV evinacumab 15 mg/kg every 4 weeks, as well as other safety endpoints. | — |
Contacts
Public ContactHisashi Makino
National Cerebral and Cardiovascular Center
Outcome results
None listed