araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Study to Compare the Efficacy and Safety of Pitavastatin and Simvastatin

Summary: The purpose of this study is to compare the efficacy and safety of pitavastatin with that of simvastatin.


Eligibility: Inclusion Criteria:
  -  Males and females (18-75 years)
  -  Must have been following a restrictive diet
  -  Diagnosis of primary hypercholesterolemia or combined dyslipidemia
  Exclusion Criteria:
  -  Homozygous familial hypercholesterolemia or familial hypoalphalipoproteinemia;
  -  Conditions which may cause secondary dyslipidemia.
  -  Uncontrolled diabetes mellitus (by hemoglobin A1c [HbA1c] > 8%)
  -  Abnormal serum creatine kinase (CK) above the pre-specified level
  -  Abnormal pancreatic, liver or renal function
  -  Significant heart disease

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Study of the Role of PCSK9 and FXR in the Physiopathology of the Joint Dyslipidemia Associated to the Human Immunoresistance

Summary: Experimental results are strongly suggesting that PCSK9 and FXR could occur in the physiopathology of human joined dyslipidemia. But no data in the literature can validate the potential role of these two genes in the lipidic and glucidic metabolism control in physiopathological situations. This protocol is based on the hypothesis that the expression levels of PCSK 9 and FXR are modified for some patients suffering from insulin resistance and dyslipidemia.


Eligibility: Inclusion Criteria:
  -  corporal mass index > 40 kg/m² or > 35 kg/m² associated to a co-morbidity resistant to a diet
  -  bariatric surgery planned
  -  no lipid-lowering drugs during 4 weeks before surgery
  -  no treatment by metformin during 4 weeks before surgery
  -  no treatment by glitazones during 8 weeks before surgery
  -  age of the patient between 18 and 65 years
  -  consent form signed
  -  patient with social insurance
  Exclusion Criteria:
  -  age inferior to 18 years
  -  women pregnant
  -  coagulation troubles
  -  surgery contraindicated
  -  Chronic hepatitis B or C active
  -  VIH infected
  -  other chronic hepatic disease
  -  patient with dyslipidemia under lipid-lowering drugs in secondary prevention of a cardiovascular pathology
  -  Type 2 diabetes under insulinosensitivator treatments

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: The Induction of IL-6 by NF-kB in PBMC in OSA

Summary: Aim of study:
  1. To compare the level of IL-6 mRNA expression in peripheral blood monocytes between normal subjects and patients with OSAS
  2. To compare the activation of NF-B in peripheral blood monocytes between control subjects and patients with OSAS; Check the correlation between level of L-6 mRNA expression and activation of NF-kB
  3. To determine the effect of CPAP on the activation of NF-kB and IL-6 in peripheral blood monocytes in patients with moderate –severe OSAS

Detailed description: Obstructive sleep apnea syndrome (OSAS) has emerged in recent years as an important risk factor for cardiovascular morbidity. The mechanisms responsible for developments of cardiovascular sequelae in patients with OSA include hypoxia, hypercapnia, exaggerated negative intrathoracic pressure and bursts of sympathetic activity provoking surges in blood pressure and heart rate. Meanwhile, increase of inflammatory mediators, which included C-reactive protein (CRP), oxidative stress, adhesion molecules, vascular endothelial growth factor (VEGF) and proinflammatory cytokines (interleukin (IL) -1, IL-2, IL-6, IL-8, IL-10 and tumor necrotic factor- (TNF-)), also involve in the development of cardiovascular disease in patients with OSAS.
  According to our preliminary study, serum levels of IL-6 and CRP were higher in patients with OSAS than control subjects and levels of both IL-6 and CRP were highly correlated with the lowest pulse oxygen saturation. Hypoxia triggered the production of IL-6 through the induction of NFB, which was demonstrated in ischemic heart disease and pancreatitis. However, this mechanism has not been prooved in OSAS.
  Therefore, we conduct this study to prove our hypothesis (1) The mRNA expression of IL-6 in peripheral blood monocytes was significantly higher in patients with OSAS than control subjects (2) The activation of NF-k B in peripheral blood monocytes was more significant in patients with OSAS than control subjects, and the level of NF- kB activation is associated with the level of IL-6 mRNA expression (3) CPAP therapy could lower both the activation of NF-kB and IL-6 mRNA expression in patients with moderate-severe OSAS.

Eligibility: Inclusion Criteria:
  -  severe obstructive sleep apnea (AHI>=30 /hr) male older than 18 y/o
  Exclusion Criteria:
  -  refuse participate, chronic lung disease active infection neurologic event

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: The Effect of Alcohol on ABCA1 Expression and Lipid Metabolism

Summary: The purpose of this study is to investigate the effects of red wine on ABCA1 levels


Eligibility: Inclusion Criteria:
  -  Healthy participants
  -  Aged 18-65 years
  -  Free of overt coronary disease
  -  BMI < 35
  -  Fasting plasma glucose <6.1 mmol
  -  Unmedicated
  -  No major illness
  Exclusion Criteria:
  -  Unable to give informed consent
  -  Smokers
  -  Participants with alcoholism

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Coadministration of Ezetimibe and Simvastatin in Patients With Primary Hypercholesterolemia (P05457)

Summary: Evaluate the safety of the long-term (1 year) coadministration of ezetimibe and simvastatin in patients with hypercholesterolemia who have not reached low density lipoprotein (LDL)-cholesterol target with 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors.


Eligibility: Inclusion Criteria:
  -  Patients with hypercholesterolemia who satisfy the following criteria:
  -  Patients who have used any of the following HMG-CoA reductase inhibitors (hereinafter referred to as "statins") for 4 weeks or longer before the start of the observation period and whose LDL-cholesterol level during the treatment had not reached lipid management target indicated below
  -  Age: 20 years of age or older (at the time of obtaining informed consent)
  -  Sex: both males and females
  -  Inpatient/outpatient: Out-patients
  Exclusion Criteria:
  -  Patients for whom any of the following is applicable:
  -  Patients whose fasted triglyceride level measured at the start of the observation period or the treatment period exceeds 500 mg/dL
  -  Patients with homozygous familial hypercholesterolemia
  -  Patients with creatine phosphokinase (CPK) > 2x upper limit of normal (ULN) measured at the start of the observation period or the treatment period.
  -  Patients with serious hepatic disorder, or patients with alanine aminotransferase (ALT) or aspartate aminotransferase (AST) > 2x ULN measured at the start of the observation period or the treatment period.
  -  Patients with a history of hypersensitivity to any ingredient of ezetimibe tablets or simvastatin tablets
  -  Pregnant, nursing women, women who may be pregnant, or patients wishing to be pregnant during the study.
  -  Patients who have discontinued use of serum lipid lowering agents for less than 4 weeks at the start of the treatment period (8 weeks in the case of probucol). (However, if the patient had taken a serum lipid lowering agent before the test conducted at the start of the observation period, a period of discontinuation of 27 days, or 55 days in the case of probucol, is allowed.)
  -  Patients who are using cyclosporine from after the start of the observation period
  -  Patients who are using any of the following drug from after the start of the observation period: itraconazole, miconazole, atazanavir, saquinavir mesilate
  -  Patients with a history of ezetimibe use
  -  Patients with hyperlipidemia associated with the following diseases:
  -  Hypothyroidism
  -  Obstructive gall bladder or biliary disease
  -  Chronic renal failure
  -  Pancreatitis
  -  Patients with hyperlipidemia associated with concomitant use of drugs having adverse effect on serum lipids, etc
  -  Patients who have received an investigational drug within 4 weeks of the start of the observation period
  -  Other patients deemed not appropriate for study entry by the investigator

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: A 12-week Post-marketing, Observational Study to Confirm the Safety and Efficacy of Zetia Alone or in Combination With Other Lipid-lowering Drugs in Japanese Subjects With Hypercholesterolemia (Study P05244)

Summary: This study is a non-interventional (observational) study in Japan to confirm the safety and efficacy of Zetia when administered alone or in combination with other lipid-lowering drugs in daily medical practice throughout a 12-week period. It is being conducted as a post-approval commitment, in accordance with the Ministry of Health, Labour and Welfare's guideline on Good Post-marketing Study Practice.
  Post-marketing surveys are not considered applicable clinical trials and thus the results of this survey will not be posted at its conclusion. The results will be submitted to public health officials as required by applicable national and international laws.

Detailed description: The population will be selected from 2,000 institutions in Japan.

Eligibility: Inclusion Criteria:
  -  Subjects who have hypercholesterolemia, familial hypercholesterolemia, or homozygous sitosterolemia will be considered for this study.
  Zetia monotherapy patients must be treated with Zetia alone.
  Zetia combination therapy patients must be treated with Zetia in combination with other lipid-lowering drugs for hypercholesterolemia.
  Exclusion Criteria:
  -  Patients with a history of hypersensitivity to any ingredient in Zetia
  -  Patients with serious hepatic function disorder should not be treated with Zetia in combination with an HMG-CoA reductase inhibitor.

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: An Experimental Medicine Study to Evaluate Serum Biomarkers of Lipid Metabolism

Summary: The purpose of this study is to validate novel assays for serum biomarkers of lipid metabolism (PCSK9 and LDL receptor) and to obtain information about how these biomarkers differ in subjects with normal or high cholesterol levels


Eligibility: Inclusion Criteria:
  -  Hypercholesterolemia
  -  Statin monotherapy
  Exclusion Criteria:
  -  Significant acute or chronic illness
  -  Secondary causes of hypercholesterolemia

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Pediatric Study to Evaluate the Efficacy and Safety of Ezetimibe Monotherapy in Children With Primary Hypercholesterolemia (P05522)

Summary: The purpose of this study is to determine the effect of ezetimibe 10 mg/day compared to placebo on the reduction of low-density lipoprotein cholesterol (LDL-C) from baseline to 12 weeks of treatment in children >=6 to <=10 years old with primary hypercholesterolemia. The study will also evaluate the effect of ezetimibe on total cholesterol (TC), apolipoprotein B (Apo B), high-density lipoprotein cholesterol (HDL-C), non-HDL-C, and triglycerides (TG). The safety of ezetimibe in this subject population will also be evaluated.


Eligibility: Inclusion Criteria:
  -  Each subject may be of either sex and of any race/ethnicity, and must be >=6 and <=10 years of age, with a diagnosis of primary hypercholesterolemia (heterozygous familial or nonfamilial) despite being on a lipid-lowering diet for at least 3 months with a LDL-C of >159mg/dL
  -  Each subject's parent/guardian must be willing to give written informed consent on his/her behalf.
  Exclusion Criteria:
  Each subject must not:
  -  Have known hypersensitivity or any contraindication to ezetimibe.
  -  Have use of any investigational drugs within 30 days of study entry.
  -  Be a member or a family member of the personnel of the investigational or sponsor staff directly involved with this trial.
  -  Be a female of child-bearing potential who is pregnant, intends to become pregnant, or is nursing
  -  Have known congenital cardiac disorder.
  -  Have documented or laboratory values consistent with homozygous familial hypercholesterolemia (HoFH).
  -  Be known to be human immunodeficiency virus (HIV) positive.

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Lipid Biomarker Study in Men With Dyslipidemia After Simvastatin Treatment (Study MK-0000-140)(COMPLETED)

Summary: The purpose of this study was to provide human lipidomics standards with simvastatin treatment that were to be used for comparison with similar preclinical studies.


Eligibility: Inclusion Criteria:
  -  Participant is a Caucasian (including Hispanic) male
  -  Participant has a maximum waist size of 40 inches
  -  Participant does not currently use any lipid-altering medications
  -  Participant is in good health other than the diagnosis of dyslipidemia
  Exclusion Criteria:
  -  Participant has had stomach ulcers within the last 3 months
  -  Participant has had a heart attack in the last 6 months or has angina
  -  Participant has chronic heart failure
  -  Participant has a history of stroke, seizures, or major neurological disorder
  -  Participant has a history of cancer
  -  Participant has a gastrointestinal condition that affects bowel movements
  -  Participant has type 1 or 2 diabetes

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia

Summary: This was a long term follow on study to assess the continued long term safety and efficacy of lomitapide in patients with homozygous familial hypercholesterolemia.

Detailed description: This was a phase III open label clinical trial to evaluate the long-term efficacy and safety of lomitapide at the maximum tolerated dose (for each patient) established during the clinical trial 733-005/UP1002. Subjects completing the 78-week treatment period in study 733-005/UP1002 who have not met any of the stopping criteria will be eligible to participate in 733-012. The treatment period continued until a decision was made by the local competent authority regarding marketing authorization. Lomitapide will be given orally once daily. Patient specific doses will be carried forward from 733-005/UP1002, but will not exceed the maximum tolerated dose the patient received during 733-005 /UP1002. The maximum dose for any patient was 80 mg/day. There was no reference therapy in this trial. The effects of the study drug were compared to baseline data (from 733-005/UP1002). Concomitant lipid-lowering therapy including plasmapheresis or LDL apheresis is permitted.
  Note that hereafter, Week 0 in Study 733-005/UP1002 will be referred to as Baseline and Week 48 in Study AEGR-733-012 will be referred to as Week 126 (of overall treatment).

Eligibility: Inclusion Criteria:
  1. Completed UP1002 or 733-005.
  2. Willing and able to provide consent and comply with the requirements of the study protocol.
  Exclusion Criteria:
  1. Met any of the stopping rules for study discontinuation at the final visit of study UP1002 or 733-005.

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Safety Study of BMS-844421 for Treatment of Hypercholesterolemia

Summary: The purpose of this study is to assess the safety, tolerability, serum concentrations and pharmacodynamic effects on serum low-density lipoprotein (LDL) cholesterol of single and multiple subcutaneous and intravenous doses of BMS-844421 in healthy subjects (SAD) and in subjects with elevated cholesterol (MAD).


Eligibility: Inclusion Criteria:
  -  Healthy Subjects (SAD)
  -  Healthy Subjects (MAD) with untreated elevated cholesterol
  -  Body Mass Index (BMI) of 18 to 30 kg/m² inclusive
  -  Women who are not of childbearing potential and men, ages 18 to 45
  Exclusion Criteria:
  -  Any significant acute or chronic medical illness
  -  History of liver or renal disorders
  -  Prior use of any prescription or over-the-counter lipid lowering drugs, within 8 weeks prior to study drug administration

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: First In Human Study Of Increasing Oral Doses Of PF-04634817

Summary: The study will evaluate the hypothesis that at doses and plasma concentrations which affect pharmacodynamic markers of activity at the chemokine receptors, CCR2 and CCR5, the compound is safe and well tolerated. It will also evaluate the hypothesis that the pharmacokinetic profile is robust and consistent with a once or twice a day therapeutic administration.


Eligibility: Inclusion Criteria:
  -  Healthy male or female (of non-child bearing potential) subjects between 18 and 55 years of age.
  -  Body mass index of 17.5 to 30.5 kg/m2 and total body weight > 50kg.
  Exclusion Criteria:
  -  Evidence or history of any clinically significant disease.
  -  Treatment with an investigational drug within 30 days of study start
  -  Use of prescription and non-prescription medicines within 7 days of study start

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Relevance of Plasma PCSK9 Concentration as a Biomarker in Acute Coronary Syndrome.

Summary: PCSK9 (Proprotein convertase subtilisin kexin type 9) plays a key role in LDL-cholesterol (LDLC) metabolism by inhibiting LDL receptor (LDLR) at post-transcriptional level. PCSK9 loss of function mutations are associated to decreased LDLC levels and a cardiovascular protection. In this context, the development of pharmacological inhibitors of PCSK9, in association with statins treatment, represents a major therapeutic issue for LDLC modulation. It was previously shown that PCSK9 plasmatic concentration correlated with plasmatic LDLC, TG and glucose concentrations. However, no data are available on predictive value of PCSK9 plasmatic level concerning coronary disease severity.
  The main objective of this study is to determine whether plasmatic PCSK9 concentration is linked to coronary damage severity in patients with acute coronary syndrome.


Eligibility: Inclusion criteria:
  -  more than 18 years old
  -  Acute coronary syndrome (ST+ or ST-)
  -  2 groups of patients: with statin, and without statin treatment
  Exclusion criteria:
  -  Patient who had cancer during the last 5 years or with cancer in progress
  -  Patient with severe infection in progress
  -  Hepatic failure (TP<50%)
  -  Severe kidney failure
  -  Patient unable to give his consent to the study

Relevance to patient case: not relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Ascending Multiple Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Evolocumab (AMG 145) in Adults With Hyperlipidemia on Stable Doses of a Statin

Summary: The purpose of the study is to evaluate the safety and tolerability of multiple doses of evolocumab when given as an add-on to stable statin therapy.

Detailed description: Participants receiving low-to-moderate-dose statins were randomized in a 1:3 ratio to receive subcutaneous placebo or evolocumab and enrolled sequentially into one of 5 dose-escalation cohorts:
  1. Evolocumab 14 mg/placebo once weekly (QW) × 6 doses
  2. Evolocumab 35 mg/placebo once weekly (QW) × 6 doses
  3. Evolocumab 140 mg/placebo every 2 weeks (Q2W) × 3 doses
  4. Evolocumab 280 mg/placebo every 2 weeks (Q2W) × 3 doses
  5. Evolocumab 420 mg/placebo every 4 weeks (Q2W) × 2 doses.
  Participants receiving high-dose statins were randomized 1:3 to receive subcutaneous placebo or evolocumab 140 mg every 2 weeks × 3 doses (Cohort 6).
  Participants diagnosed with familial hypercholesterolemia (HeFH) were randomized 1:2 to receive subcutaneous placebo or evolocumab 140 mg every 2 weeks × 3 doses (Cohort 7).

Eligibility: Inclusion Criteria:
  -  Men and women ages 18 to 70 years (inclusive) at the time of screening with hyperlipidemia
  -  Body mass index (BMI) ≥18 and ≤ 35 kg/m^2 at the time of screening
  -  Low-density lipoprotein cholesterol (LDL-C) level of 70-220 mg/dL (inclusive) at screening as measured by direct assay
  -  For Cohorts 1-5: On a stable dose of rosuvastatin (Crestor) < 40 mg/day, atorvastatin (Lipitor) < 80 mg/day, or simvastatin (Zocor) 20-80 mg/day for ≥ 1 month prior to enrollment and expected to remain on this dose for the remainder of the study
  -  For Cohort 6: On a stable dose of rosuvastatin (Crestor) 40 mg/day or atorvastatin (Lipitor) 80 mg/day for ≥ 1 month prior to enrollment and expected to remain on this dose for the remainder of the study
  -  For Cohort 7: Diagnosis of heterozygous familial hypercholesterolemia, based on a score of ≥ 9 points using the World health Organization (WHO) criteria
  Exclusion Criteria:
  -  Diagnosis of homozygous familial hypercholesterolemia
  -  History of heart failure, coronary artery bypass graft, or cardiac arrhythmia
  -  History of acute coronary syndrome (e.g. myocardial infarction, hospitalization for unstable angina) or percutaneous coronary intervention, within 12 months prior to enrollment
  -  Planned cardiac surgery or revascularization
  -  Known aortic, peripheral vascular or cerebrovascular disease (including history of stroke or transient ischemic attack)
  -  Diabetes mellitus with any of the following:
  1. known microvascular or macrovascular disease
  2. HbA1c > 8.0% at screening
  3. use of any hypoglycemic medication other than metformin
  -  Uncontrolled hypertension (systolic blood pressure ≥ 150 or diastolic blood pressure ≥ 90 mmHg) either on or off therapy at screening or at baseline

Relevance to patient case: not relevant