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

Clinical trial: Study of the Safety and Efficacy of REGN727/SAR236553 in Patients With HeFH Hypercholesterolemia

Summary: The purpose of this study is to assess the efficacy and safety of REGN727/SAR236553 in participants diagnosed with heterozygous familial hypercholesterolemia (heFH)


Eligibility: Inclusion Criteria:
  1. Must meet the World Health Organization criteria for heFH
  2. Participants must be on a stable statin dose, with or without ezetimibe, for at least 6 weeks before screening
  3. Serum LDL-C levels ≥ 100 mg/dL at screening
  4. Willing to follow the NCEP ATPIII TLC diet, or an equivalent diet plan, starting at screening and continuing until the last study visit
  5. A negative urine/serum pregnancy test at each screening visit and start of the study, for women of childbearing potential
  Key Exclusion Criteria:
  1. Participants with homozygous FH (clinically or by previous genotyping)
  2. Use of a medication (other than a statin or EZE) to alter serum lipids within 42 days (6 weeks) before screening including, but not limited to:
  -  Fibrates
  -  Niacin (>500 mg/day)
  -  Omega-3 fatty acids (>1000 mg/day of DHA/EPA)
  -  Bile acid resins
  3. Use of nutraceuticals or OTC medications that may alter lipid levels that are not stable for at least 6 weeks before screening and are not planned to remain constant throughout the study. Examples include:
  -  Omega-3 fatty acids (≤1000 mg/day of DHA/EPA)
  -  Niacin (≤500 mg/day)
  -  Plant stanols, such as found in Benecol, flax seed oil, psyllium
  -  Red yeast rice
  4. Disorders known to influence lipid levels, such as nephrotic syndrome, significant liver disease, Cushing's disease, untreated hypothyroidism (patients on stable thyroid replacement for at least 12 weeks before the full screening visit, who are metabolically euthyroid by thyroid-stimulating hormone (TSH) testing are allowed)
  5. Use of thyroid medications (except for replacement therapy which has been stable for at least 12 weeks before the full screening visit)
  6. Fasting serum TG >350 mg/dL screening
  7. LDL apheresis within 12 months before screening

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

Clinical trial: Effect of Dietary Phospholipids on Atopic Dermatitis

Summary: The aim of the study is to investigate the influence of a milk phospholipid enriched dairy product on subjects with atopic dermatitis determining parameters of the immune status, the plasma lipid profile and the skin texture.

Detailed description: Based on the facts, that on the one hand milk phospholipids are characterized by a high sphingolipid content and on the other hand a disturbed sphingolipid metabolism in the epidermis of patients with atopic dermatitis was verified, a double blinded, controlled, randomized, cross-over study with a daily supplementation of 3 g milk phospholipids to subjects with a mild to moderate atopic dermatitis will be conducted.
  Forty patients will be randomized between two groups of each 20 patients. After an individual checkup and a run-in period of 2 weeks, the one group will receive the phospholipid enriched dairy product and the second group will be given a placebo dairy product over two month. A wash out-period of 4 weeks will follow, and the patients will consume the contrary dairy products over two month after a 2-week run-in period again.

Eligibility: Inclusion Criteria:
  -  mild to moderate atopic dermatitis (SCORAD < 30)
  -  age: 18 - 60 years
  Exclusion Criteria:
  -  intolerance against milk proteins
  -  systemic medication with corticosteroids or antihistamines
  -  immune mediated disease
  -  atherosclerosis
  -  hyperlipidaemia
  -  diabetes mellitus
  -  angina pectoris
  -  adipositas
  -  pregnancy and breast feeding

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

Clinical trial: Multiple Ascending Dose Study of SPC5001 in Treatment of Healthy Subjects and Subjects With FH

Summary: The purpose is to study Safety and Tolerability.


Eligibility: Inclusion Criteria:
  1. Healthy male or female subjects and subjects with heterozygous Familial Hypercholesterolemia
  -  Healthy male or female subjects, age 18 to 65 years, inclusive will be enrolled in Cohorts 1 through 4.
  -  In Cohort 5, male or female subjects with heterozygous Familial Hypercholesterolemia, confirmed through genetic testing, without a history of cardiovascular disease (e.g. coronary artery, peripheral artery or cerebrovascular disease), hypertension or diabetes mellitus age 18-45 years, inclusive, will be enrolled.
  2. BMI of 18-33 kg/m2
  3. Screening hematology, clinical chemistries, coagulation and urinalysis consistent with overall good health and the following criteria are met:
  -  LDL ≥.3.24 mmol/L (≥ 100 mg/dL)
  -  Triglycerides (fasted) < 4.5 mmol/L (< 398 mg/dL)
  -  ALT within normal limits for healthy subjects and ALT < 2 x ULN for FH subjects
  Exclusion Criteria:
  1. Any uncontrolled or active major systemic disease including, but not limited to: cardiovascular, pulmonary, gastrointestinal, metabolic, urogenital, neurological, immunological, psychiatric, or neoplastic disorder with metastatic potential
  - History or presence of malignancy within the past year is an exclusion criterion. Subjects who have been successfully treated with no recurrence of basal cell carcinoma of the skin or carcinoma in-situ of the cervix may be enrolled.
  2. Active acute or chronic infection, including, but not limited to: upper airway infection, urinary tract infection, and skin infection
  3. Use of prescription medication within 14 days prior to the planned first drug administration and throughout the study. For the FH subjects statin therapy (and other lipid lowering therapies) will be prohibited within 4 weeks prior to the first study drug administration.
  4. Use of non-prescription or over-the-counter medications is prohibited within 7 days prior to the planned first drug administration and throughout the study. This includes all vitamins, herbal supplements, or remedies. An exception can be made for medication or supplements that in the opinion of both the investigator and the Sponsor do not complicate or compromise the study or interfere with the study objectives.
  5. Positive results on the following Screening laboratory tests: urine or serum pregnancy test (women only), alcohol breath test, urine drugs of abuse, hepatitis B surface antigen, hepatitis C antibody, and human immunodeficiency virus (HIV) antibody.

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

Clinical trial: Reduction of Low-Density Lipoprotein Cholesterol (LDL-C) With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study

Summary: The primary objective of this study was to evaluate the effect of 12 weeks of subcutaneous evolocumab (AMG 145), compared with placebo, on percent change from baseline in LDL-C in adults with heterozygous familial hypercholesterolemia (HeFH).


Eligibility: Inclusion Criteria:
  -  Male or female ≥ 18 to ≤ 75 years of age
  -  Diagnosis of heterozygous familial hypercholesterolemia by having met the diagnostic criteria outlined by the Simon Broome Register Group (Scientific Steering Committee 1991)
  -  On an approved statin, with or without ezetimibe, with stable dose(s) for at least 4 weeks
  -  Fasting Low-Density Lipoprotein Cholesterol (LDL-C) ≥ 100 mg/dL
  -  Fasting triglycerides ≤ 400 mg/dL
  Exclusion Criteria:
  -  Homozygous familial hypercholesterolemia
  -  Low-Density Lipoprotein (LDL) or plasma apheresis within 12 months prior to randomization
  -  New York Heart Association (NYHA) III or IV heart failure, or known left ventricular ejection fraction < 30%
  -  Uncontrolled cardiac arrhythmia
  -  Myocardial infarction, unstable angina, percutaneous coronary intervention (PCI), coronary artery bypass graft (CABG) or stroke within 3 months prior to randomization
  -  Type 1 diabetes; newly diagnosed or poorly controlled type 2 diabetes (HbA1c > 8.5%)
  -  Uncontrolled hypertension

Relevance to patient case: definitely relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: Monoclonal Antibody Against PCSK9 to Reduce Elevated Low-density Lipoprotein Cholesterol (LDL-C) in Adults Currently Not Receiving Drug Therapy for Easing Lipid Levels

Summary: The primary objective was to evaluate the effect of 12 weeks of subcutaneous evolocumab (AMG 145) every 2 weeks (Q2W) or every 4 weeks (Q4W), compared with placebo, on the percent change from baseline in LDL-C when used as monotherapy in adults with hypercholesterolemia.


Eligibility: Inclusion Criteria:
  -  Male or female ≥ 18 to ≤ 75 years of age
  -  Low density lipoprotein cholesterol (LDL-C) ≥ 100 mg/dL and < 190 mg/dL
  -  Framingham risk score of 10% or less
  -  Fasting triglycerides < 400 mg/dL
  Exclusion Criteria:
  -  History of coronary heart disease
  -  New York Heart Association (NYHA) II - IV heart failure
  -  Uncontrolled cardiac arrhythmia
  -  Uncontrolled hypertension

Relevance to patient case: possibly relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: LAPLACE-TIMI 57: Low-density Lipoprotein Cholesterol (LDL-C) Assessment With PCSK9 monoclonaL Antibody Inhibition Combined With Statin thErapy

Summary: To evaluate the effect of 12 weeks of subcutaneous (SC) evolocumab (AMG 145) administered every 2 weeks (Q2W) or every 4 weeks (Q4W), compared with placebo, on percent change from baseline in LDL-C when used in addition to a statin in adults with hypercholesterolemia.


Eligibility: Inclusion Criteria:
  -  Male or female ≥ 18 to ≤ 80 years of age
  -  On an approved statin, with or without ezetimibe, with stable dose(s) for at least 4 weeks
  -  Fasting LDL-C ≥ 85 mg/dL
  -  Fasting triglycerides ≤ 400 mg/dL
  Exclusion Criteria:
  -  Myocardial infarction, unstable angina, percutaneous coronary intervention (PCI), coronary artery bypass graft (CABG) or stroke within 3 months prior to randomization
  -  Type 1 diabetes; newly diagnosed or poorly controlled type 2 diabetes (Glycosyated Hemoglobin (HbA1c) > 8.5%)
  -  Uncontrolled hypertension
  -  New York Heart Association (NYHA) III or IV heart failure, or known left ventricular ejection fraction < 30%
  -  Uncontrolled cardiac arrhythmia

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

Clinical trial: DNA Tests in Detecting Disseminated Disease in Tumor, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma

Summary: RATIONALE: DNA analysis of tumor, blood, and bone marrow may help doctors predict if the disease has been disseminated.
  PURPOSE: This research trial studies DNA tests in detecting disseminated disease in tumor, blood, and bone marrow samples from patients with rhabdomyosarcoma.

Detailed description: OBJECTIVES:
  -  To establish a panel of hypermethylation assays for minimal disseminated disease analysis in rhabdomyosarcoma (RMS).
  -  To apply the hypermethylation assays to a series of bone marrow specimens from RMS patients.
  OUTLINE: Archived tumor, bone marrow, and peripheral blood samples are analyzed for DNA hypermethylation by PCR-based assays and microarray assays. Results are then compared with each patient's clinical and pathological characteristics, and outcomes. Patterns of locus hypermethylation in tumor and paired bone marrow samples are also compared.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosed with rhabdomyosarcoma (RMS)
  -  Tumor, bone marrow, and peripheral blood samples from the Children's Oncology Group D9803 trial of intermediate-risk RMS
  PATIENT CHARACTERISTICS:
  -  Not specified
  PRIOR CONCURRENT THERAPY:
  -  Not specified

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

Clinical trial: A Study of AMR101 to Evaluate Its Ability to Reduce Cardiovascular Events in High Risk Patients With Hypertriglyceridemia and on Statin. The Primary Objective is to Evaluate the Effect of 4 g/Day AMR101 for Preventing the Occurrence of a First Major Cardiovascular Event.

Summary: AMR101 (icosapent ethyl [ethyl-EPA]) is a highly purified ethyl ester of eicosapentaenoic acid (EPA) being developed by Amarin Pharma Inc. for the treatment of cardiovascular disease in statin-treated patients with hypertriglyceridemia. The purpose of this study is to evaluate whether this drug, combined with a statin therapy, will be superior to the statin therapy alone, when used as a prevention in reducing long-term cardiovascular events in high-risk patients with mixed dyslipidemia.


Eligibility: Inclusion Criteria:
  -  Men and non-pregnant or sterile women ages 45 and older
  -  Hypertriglyceridemia
  -  On statin therapy for at least four weeks
  -  Either having established Cardiovascular Disease or at high risk for Cardiovascular Disease
  Exclusion Criteria:
  -  Severe heart failure
  -  Any life-threatening disease other than Cardiovascular Disease
  -  Active severe liver disease
  -  Hemoglobin A1c >10.0%
  -  Poorly controlled hypertension
  -  Planned coronary intervention (such as stent placement or heart bypass) or any non-cardiac major surgical procedure
  -  Known familial lipoprotein lipase deficiency (Fredrickson Type I), apolipoprotein C-II deficiency, or familial dysbetalipoproteinemia (Fredrickson Type III)
  -  Known hypersensitivity to the study product, fish and/or shellfish, or placebo
  -  History of acute or chronic pancreatitis
  -  Patients are excluded if using the following medications:
  -  PCSK9 inhibitors
  -  niacin >200 mg/day or fibrates;
  -  any omega-3 fatty acid medications ;
  -  dietary supplements containing omega-3 fatty acids (e.g., flaxseed oil, fish oil, krill oil, or algal oil);
  -  bile acid sequestrants

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

Clinical trial: Long-term Safety and Tolerability of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy in High Cardiovascular Risk Patients With Hypercholesterolemia (ODYSSEY Long Term)

Summary: Alirocumab (SAR236553/REGN727) is a fully human monoclonal antibody that binds PCSK9 (proprotein convertase subtilisin/kexin type 9).
  Primary Objective of the study:
  To evaluate the long-term safety and tolerability of alirocumab in high cardiovascular risk participants with hypercholesterolemia not adequately controlled with their current lipid modifying therapy (LMT).
  Secondary Objectives:
  -  To evaluate the effect of alirocumab on low-density lipoprotein cholesterol (LDL-C) levels after 24 weeks of treatment in comparison with placebo.
  -  To evaluate the effect of alirocumab in comparison with placebo on LDL-C at other time points.
  -  To evaluate the effects of alirocumab on other lipid parameters.

Detailed description: The maximum study duration was to be 89 weeks per participant, including a 3-week screening period, a 78-week randomized treatment period and 8-week follow-up period.

Eligibility: Inclusion criteria:
  Either A or B below and who were not adequately controlled with their lipid-modifying therapy:
  A) Participants with heterozygous familial hypercholesterolemia (heFH) with or without established coronary heart disease (CHD) or CHD risk equivalents
  OR
  B) Participants with hypercholesterolemia together with established CHD or CHD risk equivalents.
  Exclusion criteria:
  -  Age < 18 years
  -  LDL-C <70 mg/dL (< 1.81 mmol/L)
  -  Fasting serum triglycerides > 400 mg/dL (>4.52 mmol/L)
  The above information was not intended to contain all considerations relevant to a participant's potential participation in a clinical trial.

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

Clinical trial: Durable Effect of PCSK9 Antibody CompARed wiTh placEbo Study

Summary: To evaluate the efficacy, safety, and tolerability of 52 weeks of subcutaneous (SC) evolocumab (AMG 145) compared with placebo when added to assigned background lipid-lowering therapy.

Detailed description: Eligible participants with screening central laboratory low-density lipoprotein cholesterol (LDL-C) values ≥ 75 mg/dL (1.9 mmol/L) were instructed to follow National Cholesterol Education Program (NCEP) Adult Treatment Panel III (ATP) Therapeutic Lifestyle Changes (TLC) diet and were assigned to 1 of the following 4 background lipid-lowering therapies for a 4-week stabilization period based upon their screening LDL-C and its distance from the individual's required goal as stipulated by their NCEP ATP III risk category:
  1. no drug therapy required - diet alone
  2. low dose drug therapy required - diet plus atorvastatin 10 mg orally (PO) once daily (QD)
  3. high dose drug therapy required - diet plus atorvastatin 80 mg PO QD
  4. maximal drug therapy required - diet plus atorvastatin 80 mg PO QD plus ezetimibe 10 mg PO QD.
  If the participant met entry criteria at the end of the lipid stabilization period they were randomized 2:1 to receive evolocumab 420 mg or placebo subcutaneously once a month for 52 weeks in addition to their background therapy.

Eligibility: Inclusion Criteria:
  -  Subject has provided informed consent.
  -  Fasting LDL-C ≥ 75 mg/dL and meeting the following LDL-C values on background lipid-lowering therapy:
  -  < 100 mg/dL for subjects with diagnosed coronary heart disease (CHD) or CHD risk equivalent
  -  < 130 mg/dL for subjects without diagnosed CHD or CHD risk equivalent
  -  OR on maximal background lipid-lowering therapy defined as atorvastatin 80 mg PO QD and ezetimibe 10 mg PO QD
  -  Fasting triglycerides ≤ 400 mg/dL
  Exclusion Criteria:
  -  New York Heart Association (NYHA) II-IV heart failure, or last known left ventricular ejection fraction < 30%
  -  Uncontrolled cardiac arrhythmia
  -  Myocardial infarction, unstable angina, percutaneous coronary intervention (PCI), coronary artery bypass graft (CABG) or stroke within 3 months prior to randomization, type 1 diabetes, newly diagnosed or poorly controlled type 2 diabetes
  -  Uncontrolled hypertension

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

Clinical trial: A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)

Summary: The purpose of this study is to determine the pharmacokinetics of laropiprant following administration of a single dose of 1 (Panel A) and 2 (Panel B) combination tablets of MK-0524A in adolescents with heterozygous familial hypercholesterolemia.


Eligibility: Inclusion Criteria:
  -  Post-pubescent adolescent age 10 to 16 with heterozygous familial hypercholesterolemia
  -  Agree to use (and/or have their partner use) acceptable methods of birth control beginning at the prestudy visit until at least 2 weeks after dosing of study drug
  -  Height and weight fall between the 10th and 95th percentile for age with a minimum body weight of 23 kg
  -  Receiving appropriate medical care for hypercholesterolemia, such as a statin or other lipid-modifying therapy.
  Exclusion Criteria:
  -  History of psychiatric or personality disorders that may affect the patient's ability to participate
  -  History of stroke, chronic seizures, or major neurological disorder
  -  History of clinically significant endocrine, gastrointestinal, cardiovascular, hematological, hepatic, immunological, renal, respiratory, or genitourinary abnormalities or diseases (excluding lipid abnormalities)
  -  Poorly controlled or recently diagnosed Type 1 or Type 2 diabetes mellitus
  -  History of neoplastic disease within previous 5 years
  -  Consumes alcohol or excessive amounts of products that contain caffeine (e.g. cola)
  -  Has had major surgery, donated and/or received blood within previous 8 weeks
  -  Participated in another investigational study within previous 4 weeks
  -  History of significant multiple and/or severe allergies (including latex allergy), or has had an anaphylactic reaction or significant intolerability to prescription or non-prescription drugs or food
  -  Positive for hepatitis B surface antigen, hepatitis C antibodies or human immunodeficiency virus (HIV)
  -  Cannot swallow large tablets
  -  Pregnant or breastfeeding

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

Clinical trial: Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities

Summary: A study to determine the safety, tolerability, and efficacy of evolocumab (AMG 145) in patients with homozygous familial hypercholesterolemia (HoFH).

Detailed description: Study Masking:
  Part A: Open Label Part B: Double Blind

Eligibility: Inclusion Criteria:
  -  Males and females ≥ 12 to ≤ 80 years of age
  -  Diagnosis of homozygous familial hypercholesterolemia
  -  Stable lipid-lowering therapies for at least 4 weeks
  -  LDL cholesterol ≥ 130 mg/dl (3.4 mmol/L)
  -  Triglyceride ≤ 400 mg/dL (4.5 mmol/L)
  -  Bodyweight of ≥ 40 kg at screening.
  Exclusion Criteria:
  -  LDL or plasma apheresis within 8 weeks prior to randomization
  -  New York Heart Association (NYHA) class III or IV or last known left ventricular ejection fraction < 30%
  -  Myocardial infarction, unstable angina, percutaneous coronary intervention (PCI), coronary artery bypass graft (CABG) or stroke within 3 months of randomization
  -  Planned cardiac surgery or revascularization
  -  Uncontrolled cardiac arrhythmia
  -  Uncontrolled hypertension

Relevance to patient case: definitely relevant
Patient case: 24-year-old female with familial hypercholesterolemia; genetic feature: PCSK9

Clinical trial: A Study of Alirocumab (REGN727/SAR236553) in Patients With ADH and GOFm of the PCSK9 Gene or LOFm of the apoB Gene

Summary: The purpose of this study is to assess the pharmacodynamic (PD) effect of alirocumab on serum low-density lipoprotein cholesterol (LDL-C) in patients with autosomal dominant hypercholesterolemia (ADH) and gain-of-function mutations (GOFm) in 1 or both alleles of the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene or with a loss-of-function mutation (LOFm) in 1 or more alleles of the apolipoprotein B-100 gene (apoB).


Eligibility: Inclusion Criteria:
  Inclusion criteria include, but are not limited to the following:
  1. Between the ages of 18 and 70 years, inclusive
  2. A history of molecularly confirmed PCSK9 GOFm for cohort 1 and a history of molecularly confirmed PCSK9 GOFm or ApoB LOFm
  3. Plasma LDL-Cholesterol levels ≥70 mg/dL at the screening visit on a lipid lowering therapy (LLT) regimen stable for at least 28 days
  Exclusion Criteria:
  Exclusion criteria include, but are not limited to the following:
  1. Serum triglycerides >350 mg/dL at the screening visit
  2. Known to be positive for human immunodeficiency virus (HIV), hepatitis B virus, or hepatitis C virus
  3. Pregnant or breast-feeding women.
  4. Sexually active man or woman of childbearing potential who is unwilling to practice adequate contraception during the study

Relevance to patient case: possibly relevant