Last updated on September 2018

Study in Participants With Homozygous Familial Hypercholesterolemia (HoFH)


Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Homozygous Familial Hypercholesterolemia
  • Age: Between 18 - 100 Years
  • Gender: Male or Female

Note: The information listed below is not intended to contain all considerations relevant to a patient's potential participation in this clinical trial, therefore not all inclusion/exclusion criteria are listed.

Key Inclusion Criteria

  1. Diagnosis of HoFH by at least 1 of the following genotype or clinical criteria (all patients on LDL apheresis must be diagnosed based on genotype):
  2. Documented homozygous or compound heterozygous mutations in both low-density lipoprotein receptor (LDLR) alleles
  3. Presence of homozygous or compound heterozygous mutations in Apo B or PCSK9
  4. Presence of double heterozygous mutations, i.e, mutations on different genes in the LDLR, Apo B or PCSK9 alleles
  5. Untreated TC >500 mg/dL (12.93 mmol/L) and TG <300 mg/dL (3.39 mmol/L) AND Both parents with history of TC >250 mg/dL (6.46 mmol/L) OR cutaneous or tendinous xanthoma before age 10
  6. Receiving a stable dose of a statin at the screening visit (documentation if statin ineffective or patient unable to tolerate statin)

Key Exclusion Criteria:

  1. Documented evidence of a null mutation in both LDLR alleles
  2. Use of a PCSK9 inhibitor within 10 weeks from screening visit
  3. Background medical lipid modifying therapy (LMT) that has not been stable for at least 4 weeks (6 weeks for fibrates, 24 weeks for mipomersen, 12 weeks for maximum tolerated dose of lomitapide) before the screening visit.
  4. LDL apheresis schedule/apheresis settings that have not been stable for at least 8 weeks before the screening visit or an apheresis schedule/settings that is not anticipated to be stable over the next 24 weeks.
  5. Use of nutraceuticals or over-the-counter (OTC) therapies known to affect lipids, at a dose/amount that has not been stable for at least 4 weeks prior to the screening visit or between the screening and randomization visits.
  6. Chronic use of systemic corticosteroids, unless on a stable regimen of 10 mg daily prednisone equivalent or less for at least 6 weeks prior to randomization. Note: topical, intra-articular, nasal, inhaled and ophthalmic steroid therapies are not considered as 'systemic' and are allowed
  7. Systolic blood pressure >160 mmHg or diastolic blood pressure >100 mmHg at the screening visit (1 repeat measurement is allowed).
  8. History of a myocardial infarction (MI), unstable angina leading to hospitalization, coronary artery bypass graft surgery, percutaneous coronary intervention , uncontrolled cardiac arrhythmia, carotid surgery or stenting, stroke, transient ischemic attack, valve replacement surgery, carotid revascularization, endovascular procedure or surgical intervention for peripheral vascular disease within 3 months prior to the screening visit.

Recruitment Status: Open


Brief Description Eligibility Contact Research Team


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