araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: DNA Analysis of Discarded Media Drops From the Clinical IVF Cycles

Summary: Performing DNA analysis of discarded media drops from the clinical IVF cycles completed in our Center

Detailed description: The purpose of this research study is to investigate for the presence of DNA in the surrounding media that is remaining after human clinical IVF cycles, to have a non-invasive way of obtaining markers of embryo chromosome numeration. Media recovered from the clinical IVF laboratory is typically discarded during an IVF cycle. Genomic technologies will be used to analyze the otherwise discarded media drop for chromosome counting.

Eligibility: Inclusion Criteria:
  -  Any women undergoing an In Vitro Fertilization cycle (IVF) at the Colorado Center for Reproductive Medicine that is also having Comprehensive Chromosomal Screening (CCS) of embryos
  Exclusion Criteria:
  -

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: VF Mapping in Brugada and Early Repolarization Syndromes

Summary: To determine the values and limitations of ECGI in guiding ablation and risk stratification in patients with BrS and Early Repolarization.

Detailed description: The investigators will study symptomatic BrS and ERs syndrome (N=25) and asymptomatic patients (N=25) age between 16-70 years old to determine values and limitations of non-invasive mapping using electrocardiographic imaging (ECGI) in identifying VF substrates as target sites for catheter ablations in patients with Brugada (BrS) and Early repolarization syndromes (ERS) and also determine the mechanisms of VF in BrS and ERs syndromes.

Eligibility: Inclusion Criteria:
  Patients presenting with the type1 BrS ECG or ER ECG signature pattern, with/without a sodium channel blocker. Patients with the following one of these symptoms or arrhythmias will be considered as symptomatic patients: 1) aborted cardiac arrest cases, 2) documented VF episodes, 3) agonal respiration during sleep with difficulty to arouse, 4) syncope of unknown origin, or 5) seizure suspected of arrhythmic origin.•
  Exclusion Criteria:
  Patients who refuse informed consent and to participate to the best ability in the study.
  Patients who have structural heart disease or concomitant medical illness.

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Elimination of VPB With Ablation Versus Anti-arrhythmic Drug Treatment

Summary: The ECTOPIA trial is a randomized, multicenter, clinical trial to assess elimination of ventricular premature beats (VPB) with catheter ablation versus optimal anti-arrhythmic drugs (AAD) treatment with flecainide/verapamil or sotalol.

Detailed description: The ECTOPIA trial is a randomized, multicenter, clinical trial to assess elimination of VPB with catheter ablation versus optimal AAD treatment with flecainide/verapamil or sotalol. Due to the use of different AAD (with and without beta-blocking abilities) the investigators will be able to explore the secondary objectives. Finally, this study will assess safety of ablation of non-RVOT VPBs and long-term treatment with two different AAD.

Eligibility: Inclusion Criteria:
  -  Patients willing and capable to provide written informed consent
  -  Patients with frequent symptomatic VPB and/or nonsustained VTs with burden ≥ 5% on 24 hour Holter monitor AND
  -  Absence of structural heart disease (excluded by echocardiogram) AND
  -  Absence of underlying cardiac ischemia (ruled out by treadmill test, CT coronary arteries, nuclear scintigraphy or coronary angiography) AND
  -  Patient is considered an acceptable candidate for catheter ablation treatment with a dominant morphology of VPB/VT origin judged by the treating physician.
  -  For those already undergoing treatment, all antiarrhythmic drugs including digitalis must be discontinued during a 2-week washout period before entry to the study
  Exclusion Criteria:
  -  Age >75 years
  -  Previous catheter ablation therapy for VPB/VT
  -  Patients with sustained ventricular tachycardia or cardiac channelopathies (e.g. Catecholaminergic polymorphic ventricular tachycardia (CPVT), long- or short QT syndrome, Brugada syndrome)
  -  Wolff-parkinson-white (WPW) syndrome
  -  Use of medication with risk of QTc prolongation (e.g. antidepressant, antiemetic), except for study medication sotalol.
  -  Left ventricular dysfunction (LV ejection fraction <55%)
  -  Estimated glomerular filtration rate < 50 ml/min/1.73 m2
  -  Hepatic impairment defined by a total bilirubin ≥ 2 times the upper limit (ULN) of normal, or alanine aminotransferase (ALAT) or aspartate aminotransferase (ASAT) ≥ 3 times ULN at screening
  -  Untreated hypo- or hyperthyroidism or electrolyte imbalance
  -  Untreated obstructive sleep apnea
  -  Patients with history of myocardial infarction or bypass surgery
  -  More than grade 1/3 valvular regurgitation and/or significant valve stenosis (moderate or severe)
  -  Contraindication for any of the antiarrhythmic drugs used in this study
  -  Enrolment in another clinical study
  -  Woman currently pregnant or breastfeeding or not using reliable contraceptive measures during fertile age
  -  Mental or physical inability to participate in the study
  -  Life expectancy ≤ 12 months

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Evaluation of the Efficacy and Safety of Nifekalant Hydrochloride (NIF) Injection.

Summary: Efficacy and safety evaluation of amiodarone and Nifekalant hydrochloride(NIF) for the treatment of ventricular tachycardia and ventricular fibrillation.

Detailed description: After patients are hospitalized, they will be treated as usual in addition to antiarrhythmic drugs. DC will be performed again according to normal procedures for patients who were ineffective. Arrhythmia drugs can only be used with nifekalant or amiodarone at random.

Eligibility: Inclusion Criteria:
  -  Patients with persistent ventricular tachycardia or ventricular fibrillation who have a combined physical heart disease, or who have a conventional drug ineffective or persistent idiopathic ventricular tachycardia with amiodarone indications;
  -  Age ≥ 18 years old, gender is not limited.
  Exclusion Criteria:
  -  Patients with prolonged ventricular tachycardia with QT interval and patients with QTc interval of more than 500 ms before administration;
  -  Patients with torsades de pointes (Tdp);
  -  Patients with Brugada syndrome;
  -  Patients with severe atrioventricular block and without pacing protection;
  -  Patients with hypertrophic cardiomyopathy (HCM) with ventricular septal thickness or (and) left ventricular wall ≥ 15 mm;
  -  Pregnant or lactating women;
  -  Patients who are not suitable for the study, considered by investigators.

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Effect of Lifestyle and/or Metformin Intervention on Pregnancy Outcome, A Pilot Randomized Controlled Trial

Summary: The purpose of pilot trial is to compare the efficacy of lifestyle intervention, metformin intervention, lifestyle combined with metformin intervention in improving assisted reproductive technology in non-polycystic ovary syndrome(pcos) patients with overweight/obesity and insulin resistance compared with conventional clinical education. Subjects who meet the inclusion criteria will be randomized to four groups: lifestyle intervention group, metformin intervention group, lifestyle combined with metformin intervention group, and routine clinical education group. Subjects of above three intervention group will start ovulation stimulation treatment after reach the aim or duration of intervention and routine clinical education group has no intervention. All subjects are treated with the same procedures, including a long ovarian stimulation regimen, oocyte retrieval, and fertilization, followed by a planned transfer of two day-3 embryos. The primary outcome is ongoing pregnancy rate.


Eligibility: Inclusion Criteria:
  1. Women ages 18 to 36 years.
  2. Women BMI at least 25kg/m2.
  3. Women who are non-pcos patient(2003 Rotterdam criteria).
  4. Women with insulin resistance (HOMA criteria).
  5. Women who are participating in their first or second fresh embryo cycle of in- vitro fertilization(IVF) or intracytoplasmic sperm injection (ICSI).
  6. Women who are indicated IVF or ICSI.
  Exclusion Criteria:
  1. Women with endometriosis.
  2. Women with untreated hydrosalpinx.
  3. Women with a uterine cavity abnormality, such as a uterine congenital malformation; untreated uterine septum(except shallow uterine septum), adenomyosis, submucous myoma, or intrauterine adhesions.
  4. Women who are indicated and planned to undergo preimplantation genetic diagnosis(PGD)/preimplantation genetic screening(PGS).
  5. Women with endocrine abnormalities, such as Cushing syndrome, congenital adrenal hyperplasia, pituitary amenorrhea, thyroid dysfunction etc.
  6. Women who had participated in other treatments known to affect diet or weight (such as diet drugs and dietitian intervention) for past 3 months.
  7. Women who are unable to follow verbal and written instructions.
  8. Women who use donated oocytes to achieve pregnancy.
  9. Women with poor ovarian response(Bologna criteria).
  10. Women with diabetes mellitus, abnormal glycosylated hemoglobin.
  11. Women who has a history of recurrent spontaneous abortion.

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Atrial Sensing Capability for Better Detection of Atrial Fibrillation

Summary: This prospective multi center randomized controlled study aims to determine whether the comparison of atrial fibrillation detection according to activation of atrial sensing capability in patients with implantable cardioverter defibrillator.

Detailed description: Implantable cardioverter defibrillators(ICD) therapy has been shown to reduce sudden cardiac death and improve survival in cardiac arrest survivors as well as in heart failure patients with left ventricular dysfunction.
  Atrial fibrillation (AF) is commonly found in ICD implantation patients up to 50%. AF is an independent predictor of mortality, inappropriate shock, and embolic events. Therefore, early detection of AF in patients with ICD is essential for improving the quality of life and overall prognosis of the patients.
  Conventional ICDs consist of a single chamber (SC) ICD with a lead only in the right ventricle (RV) and dual chamber (DC) ICD with each lead in the right atrium (RA) and RV. SC ICD has the advantage of shorter procedure time, lower cost compared to DC ICD. In contrast, DC ICD has the advantage of being able to monitor atrial arrhythmic events, but complication rates were higher and additional cost and longer procedure time are usually required than SC ICD. Sixty percent of ICD implantation patients who have are SC ICD Recently, a unique ICD lead with atrial sensing ring capable of monitoring the atrial electrical signals has been developed [Intica 7 VR-T DX ICD (Biotronik., Germany)]. Therefore, turning off the atrial sensing function makes it functionally the same as SC ICD whereas turning on makes it function similar to DC ICD without additional cost and procedure time.
  Therefore, Detection of AF could be made earlier with VDD ICD versus conventional SC ICD without atrial sensing capability, providing a better chance to improve the prognosis of ICD patients. However, no study exists which shows whether VDD ICD is better for detecting atrial tachyarrhythmia than conventional SC ICD. Therefore, we designed a multicenter prospective randomized study comparing the AF diagnostic efficacy of VDD ICD (with atrial sensing 'ON') against conventional SC ICD.
  .

Eligibility: Inclusion Criteria:
  1. age ≥ 19 years
  2. indication for ICD implantation according to guidelines
  3. atrial fibrillation didn't detect by electrocardiogram or Holter test within the past 1 year from the ICD implantation, and
  4. CHA2DS2VASc score ≥1 point in male or ≥ 2 in female
  Exclusion Criteria:
  1. persistent or permanent atrial fibrillation (AF)
  2. atrial fibrillation detected by electrocardiogram or Holter test within the past 1 year from the ICD implantation
  3. history of the catheter or surgical ablation of AF or taking antiarrhythmic drug
  4. scheduled to undergo heart transplant within 1 year
  5. life expectancy < 1 year
  6. requiring atrial pacing

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Study of IDE196 in Patients With Solid Tumors Harboring GNAQ/11 Mutations or PRKC Fusions

Summary: This is a Phase 1/2, multi-center, open-label basket study designed to evaluate the safety and anti-tumor activity of IDE196 in patients with solid tumors harboring GNAQ or GNA11 (GNAQ/11) mutations or PRKC fusions, including metastatic uveal melanoma (MUM), cutaneous melanoma, colorectal cancer, and other solid tumors.
  Phase 1 (dose escalation) will assess safety, tolerability and pharmacokinetics of IDE196 via standard dose escalation scheme and determine the recommended Phase 2 dose. Safety and anti-tumor activity will be assessed in the Phase 2 (dose expansion) part of the study.


Eligibility: Inclusion Criteria:
  -  Patient must be ≥18 years of age
  -  Diagnosis of one of the following:
  -  MUM: Uveal melanoma with histological or cytological confirmed metastatic disease. Or
  -  Non-MUM: Advanced cutaneous melanoma, colorectal cancer, or other solid tumor that has progressed following prior standard therapies or that has no satisfactory alternative therapies and has evidence of GNAQ/11 hotspot mutation
  -  Measurable disease
  -  Eastern Cooperative Oncology Group ≤1
  -  Adequate organ function at screening
  -  Adequate contraceptive measures for non-sterilized male and female patients of childbearing potential
  Exclusion Criteria:
  -  Another malignancy
  -  Known microsatellite instable - high (MSI-H) tumors
  -  Adverse events from prior anti-cancer therapy that have not resolved
  -  Untreated or symptomatic central nervous system metastases
  -  Human immunodeficiency virus, acquired immunodeficiency syndrome related illness, hepatitis B virus, or hepatitis C virus
  -  Recent surgery or radiotherapy
  -  Females who are pregnant or breastfeeding
  -  Impaired cardiac function

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

Clinical trial: Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers

Summary: Homozygous familial hypercholesterolemia is a rare inherited disease of metabolism. It occurs in less than 1 in 1 million people within the United States. Patients with the disease are typically children and young adults who develop heart disease early in life. Children less than age 5 years with this disease have suffered heart attacks and death.
  The normal process that removes cholesterol particles from the blood stream does not work in patients with this disease. It causes cholesterol to build-up in the arteries and leads to hardening of the arteries (atherosclerosis).
  The goal of this study is to detect and measure atherosclerosis in these patients before it becomes permanent and potentially life threatening. Patients with this disease can participate in this study. Researchers plan to evaluate patients with homozygous familial hypercholesterolemia using new and standard methods for detecting atherosclerosis.
  Researchers plan to use information gathered during this study to develop new, promising treatments such as liver transplantation and gene therapy.

Detailed description: Familial hypercholesterolemia is an autosomal co-dominant disorder resulting in abnormal LDL receptor function, profoundly elevated concentrations of low density lipoproteins, accelerated atherosclerosis and death by early adulthood. This disease is heterogeneous in both the degree of LDL receptor dysfunction as well as the age of death. Liver transplantation has been demonstrated to virtually normalize plasma lipoprotein concentrations in homozygous FH and the recent cloning of a functional LDL receptor gene holds promise in the definitive treatment of this condition. We propose performing longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects. Sequential cardiovascular study of these patients will not only characterize the progression of atherosclerosis heart disease in this disease, it may also permit the identification of individuals with would be likely to benefit from liver transplantation and/or genetic engineering.

Eligibility: -  INCLUSION CRITERIA:
  Fasting cholesterol greater than 500 mg/dl, low density lipoprotein cholesterol greater than 400 mg/dl, and triglycerides less than mg/dl.
  Family history of hypercholesterolemia and/or cardiovascular disease before the age of 60 years.
  Tendinous and tuberous xanthomas.
  Arcus corneae before the age of 30.

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

Clinical trial: Implitapide in Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Maximal Concurrent Lipid-Lowering Therapy

Summary: The purpose of this study is to determine if implitapide, used in conjunction with other lipid-lowering therapies, is safe and effective when compared to placebo in lowering low-density lipoprotein cholesterol (LDL-C) in patients with homozygous familial hypercholesterolemia (HoFH).


Eligibility: Inclusion Criteria:
  In order to participate in this study, patients must meet all of the following inclusion criteria:
  -  be between 8 and 70 years old with a diagnosis of HoFH;
  -  be stable on and maintain concomitant therapy with hypolipidemic drugs or treatments;
  -  have an appropriate calculated, fasting LDL-C levels and an appropriate triglyceride (TG) level;
  -  be male or nonpregnant, nonlactating female;
  -  give informed consent; and
  -  meet body weight and height requirements.
  Exclusion Criteria:
  In order to participate in this study, patients must not meet any of the following exclusion criteria:
  -  recent myocardial infarction, percutaneous transluminal coronary intervention, coronary artery bypass graft surgery, or cerebrovascular accident;
  -  uncontrolled hypothyroidism or other uncontrolled endocrine disease;
  -  known, clinically significant eye abnormalities (e.g., cataracts);
  -  appropriate serum creatinine phosphokinase levels;
  -  history of liver disease or liver enzyme levels above appropriate levels;
  -  alkaline phosphatase above appropriate levels;
  -  liver cirrhosis and severe liver steatosis;
  -  clinically significant infection, malignancy, or psychosis;
  -  use of oral anticoagulants or digoxin, unless the dose has been stable for 4 weeks;
  -  participation in any other investigational study, including device or observational studies, within 30 days;
  -  lactating or have a positive serum pregnancy test;
  -  history of or current drug or alcohol abuse; or
  -  unwillingness to comply with study procedures, including follow-up, as specified by this protocol, or unwillingness to cooperate fully with the investigator.

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

Clinical trial: Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)

Summary: The purpose of this study is to provide an investigational drug to patients with a specific type of hypercholesterolemia (high cholesterol) or sitosterolemia (unusually high absorption of non-cholesterol sterols) in a treatment use setting.


Eligibility: Inclusion Criteria:
  -  Homozygous familial hypercholesterolemia or sitosterolemia
  Exclusion Criteria:
  -  Patient has a condition which, in the opinion of the investigator, might pose a risk to the patient, interfere with participation in the study, or does not meet the additional criteria as required by the study

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

Clinical trial: Efficacy and Safety of Fluvastatin in Children With Heterozygous Familial Hypercholesterolemia

Summary: The purpose of the study is to assess the safety and efficacy of fluvastatin in children diagnosed with heterozygous familial hypercholesterolemia


Eligibility: Inclusion Criteria:
  -  10-16 years old Heterozygous familial hypercholesterolemia
  Exclusion Criteria:
  -  Homozygous familial hypercholesterolemia Pregnant or lactating females Major surgery during the six month prior study
  Other protocol defined inclusion and exclusion criteria may apply

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

Clinical trial: Effect of an Internet Based Compliance Enhancement Tool in Subjects With Hypercholesterolemia

Summary: The purpose of the study is to determine whether an Internet based compliance tool is superior to common diet counselling in patients with hypercholesterolemia.


Eligibility: Inclusion Criteria:
  -  Available personal mailbox and access to the Internet
  -  Primary hypercholesterolemia with CV risk > 20% over 10 years judged by the investigator or a history of ischemic heart disease or other established atherosclerotic disease (claudicatio intermittens, apoplexia cerebri (ischaemic stroke)) or stable diabetes mellitus
  -  Fasting LDL-C level > 3.2 mmol/L
  Exclusion Criteria:
  -  Known heterozygous or homozygous familial hypercholesterolemia or known type III hyperlipoproteinaemia (familial dysbetalipoproteinaemia)
  -  Documented secondary hypercholesterolemia of any cause except stable diabetes mellitus (type 1 or type 2)
  -  History of serious adverse effect or hypersensitivity reactions to statins, in particular any history of myopathy

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

Clinical trial: Study of ISIS 301012 (Mipomersen) in Heterozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy

Summary: The aim of this study is to assess the safety and efficacy of varying doses of ISIS 301012 (mipomersen) as add-on therapy in subjects with Heterozygous Familial Hypercholesterolemia


Eligibility: Inclusion Criteria:
  -  Weight ≥ 50 kg
  -  Diagnosis of Heterozygous Familial Hypercholesterolemia.
  -  Females must be non-pregnant and non-lactating.
  -  On stable lipid lowering therapy for at least 4 weeks.
  -  Lipid levels meet the pre-specified criteria.
  Exclusion Criteria:
  -  Subject had heart problems in the prior 6 months.
  -  Subject has elevated ALT, AST, or CPK.
  -  History of renal disease, liver disease, or malignancy.
  -  Use of oral anticoagulants, unless the dose has been stable for 4 weeks
  -  Have any other conditions, which in the opinion of the Investigator would make the subject unsuitable for enrollment, or could interfere with the subject participating in or completing the study.

Relevance to patient case: not relevant