Primary objective is to explore a panel of biomarkers to support the scientific evaluation of BRN-002 as a potential therapeutic agent in the treatment of FH.
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
N/A
Secondary outcome
N/A
Background summary
Familial Hypercholesterolemia (FH) is a common life-threatening genetic
condition that results in high circulating low-density lipoprotein (LDL)
containing cholesterol. As a result, FH is associated with early morbidity and
mortality, primarily due to rapid and progressive atherosclerosis. A
number of gene mutations have been associated with FH. Patients can range from
single gene mutation heterozygotes, to multiple gene mutation compound
heterozygotes, through to gene mutation homozygotes. The severity of
presentation and disease follows this progress of gene
mutations from heterozygotes through compound heterozygotes to homozygotes.
The gene mutations most commonly reported are reduction/loss of function in the
LDL receptor (LDLR), reduction/loss of function of Apolipoprotein B (APOB), and
gain of function in proprotein convertase subtilisin/kexin type 9 (PCSK9).
However, a significant number of patients with clinical features consistent
with FH have no mutations in these genes.
There are a number of criteria used to diagnose FH depending on region and
preferences of the clinician. Finding of a defined mutation(s) is considered
definitive. The primary clinical feature used is the fasting LDL-Cholesterol
(LDL-C) and total cholesterol levels. Tendon xanthomas are
associated with severe FH. Additional factors include patient history of early
onset atherosclerosis and a family history of cardiovascular disease.
Study objective
Primary objective is to explore a panel of biomarkers to support the scientific
evaluation of BRN-002 as a potential therapeutic agent in the treatment of FH.
Study design
There will be max. two blood collections (55 ml, approximately 11 teaspoons)
for subjects. Blood samples will be used for long-term storage and future
analyses and will be stored for 10 years.
The study duration will include study sections as follows:
- Screening Visit
- Day 1 Visit (Screening & Baseline Visit may also be performed in one day)
Intervention
One blood sample will be collected on Day 1 (55 ml).
Study burden and risks
Two blood samples (55 ml) and associated risks
9200 Sunset Blvd Ste 1010
West Hollywood 90069
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9200 Sunset Blvd Ste 1010
West Hollywood 90069
US
Listed location countries
Age
Inclusion criteria
1. Patients clinically diagnosed using regional diagnostic criteria (e.g., Simon
Broome, Dutch Lipid Network, MEDPED, etc.) and/or genetically
confirmed diagnosis of Familial Hypercholesterolemia (FH)
2. >=12 years of age
3. Triglycerides <= 300 mg/dL
4. Average Fasting LDL-C levels:
o >=190mg/dL within last 30 days for untreated adults
o >=150mg/dL within last 30 days for untreated children
OR
o >=160mg/dL within last 30 days for stably treated patients (adults &
children)
Exclusion criteria
1. Conditions or circumstances that, in the opinion of the Investigator, could
interfere with or confound study results, or preclude informed consent.
2. Liver transplant recipients.
3. Patients who have undergone partial ileal bypass surgery.
4. Patients with evidence in medical history of chronic HBV infection, HCV
infection, or HIV infection
5.Patients who are currently participating or have participated in a clinical
trial in which investigational intervention was administered within 12 weeks or
5 half-lives, whichever is longer, of Screening in this clinical study.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL78683.018.21 |