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

Clinical trial: Efficacy and Safety of SR121463B in Patients With Syndrome of Inappropriate Antidiuretic Hormone Secretion

Summary: To assess the efficacy of SR121463B in correcting hyponatremia in patients with syndrome of inappropriate antidiuretic secretion (SIADH).To assess the long-term efficacy of SR121463B in maintaining normal levels of serum sodium in patients with SIADH. To assess the safety and tolerability of SR121463B in patients with SIADH.
  The double blind period is followed by an open label extension study with flexible doses of satavaptan.


Eligibility: Inclusion Criteria:
  -  Male or female patients aged 18 years and higher.
  -  SIADH (the diagnosis of SIADH is based on several criteria including true serum hypoosmolality, inappropriate urinary osmolality, clinical euvolemia, elevated urinary sodium excretion while on normal salt and water intake, and normal renal, adrenal, and thyroid functions: drug induced SIADH will be limited to carbamazepine or derivatives and antidepressants in patients in whom these drugs cannot be discontinued or easily replaced by other drugs)
  -  Serum sodium between 115 and 132 mmol/L (at least two consecutive serum sodium levels of at least 24 hours apart, from Day -6 to Day -1); for sodium levels between 125 and 132 mmol/L, the spontaneous serum sodium increase between the two assessments on Day -1 should be < 4 mmol/L
  -  Urinary osmolality >200mOsm/kg H2O
  -  Urinary sodium > 30 mmol/L
  Exclusion Criteria:
  -  Patients with acute postoperative SIADH
  -  Presence of dilutional hyponatremia in hypervolemic states such as congestive heart failure and liver disease with ascites
  -  Presence of signs of hypovolemia (e.g., orthostatic hypotension, increased serum urea nitrogen, increased serum albumin, increased hematocrit, …)
  -  Administration of other V2 receptor antagonists or demeclocycline or lithium within one month, thiazides diuretics or spironolactone within 15 days, and urea or loop diuretics within two days prior to study drug administration
  -  Patients with known treated or untreated adrenal deficiency
  -  Presence of untreated hypothyroidism
  -  Presence of uncontrolled diabetes with fasting glycemia > 200 mg/dL (> 11.09 mmol/L)
  -  Presence of clinical and/or electrocardiographical signs of acute myocardial infarction or acute ischemia, or nay other clinically significant abnormality according to the Investigator on a 12 lead ECG recording
  -  Administration of inducers of CYP3A4, phenytoin, rifampin, Saint John's Wort) or potent and moderate inhibitor so CYP3A4within two weeks prior to study drug administration
  -  Inadequate hematological, renal and hepatic functions: hemoglobin (Hb) < 9 g/dl, neutrophils < 1,500/mm3, platelets <100,00/mm3, serum creatine>175 µmol/L, ALT and /or AST >2x upper limit of normal
  -  QTcB > 500 ms
  -  Serum potassium > 5 mmol/L

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

Clinical trial: Infant Medical Records: Case Report Proposal

Summary: Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS.
  The purpose of this study is to describe the clinical course and outcome of a patient with congenital long QT syndrome (LQTS).

Detailed description: It has been previously reported that 2:1 AVB in neonatal LQTS seems preferentially associated with HERG mutations . It has also been reported in association with the SCN5A gene. We report on a neonate with congenital LQTS and congenital complete heart block who experienced frequent episodes of torades des pointe and ventricular tachycardia, which, over the first 2 days of life, was recalcitrant to traditional therapy of beta-blockers and other antiarrhythmics. Eventually hypotension necessitated the use of an epinephrine infusion, which halted the ventricular tachyarrhythmias. A pacemaker was implanted once the infant was stable and, currently, he is thriving. Genetic analysis revealed a HERG mutation.
  For this study, we will need access to the infant’s inpatient and outpatient medical records at Children's Healthcare of Atlanta at Egleston Children’s Hospital and Sibley Heart Center Cardiology to include his age, date of birth, medical record number, inpatient labs, inpatient echo reports, outpatient echo reports, inpatient and outpatient EKG’s, inpatient pharmacy records, the results of his genetic analysis, his history and physical, transfer notes, daily progress notes, consultation reports and operative reports from his admission beginning 9/30/04.

Eligibility: Inclusion Criteria:
  -  Congenital long QT Syndrome single case report
  Exclusion Criteria:
  -  Single case report

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

Clinical trial: Gonyautoxin in the Treatment of Chronic Tension-Type Headache

Summary: The purpose of this study is to evaluate the clinical efficacy of Gonyautoxin 2/3 epimers in the treatment of patients diagnosed with chronic tensional-type headache in accordance with International Headache Society guidelines

Detailed description: Gonyautoxin are phycotoxins, whose molecular mechanism of action is a reversible block of the voltage-gated sodium channels at neuronal level. They are axonal conduction blockers impeding nerve impulse propagation. In order to evaluate the clinical efficacy of Gonyautoxin 2/3 epimers in the treatment of patients diagnosed with chronic tensional-type headache, the patients were locally injected with placebo versus Gonyautoxin following a painful spots injection standarized protocol

Eligibility: Inclusion Criteria:
  -  Chronic tensional-type headache patients according to the International Headache Society criteria: patients with headache of a pressing or tightening quality with episodic frequency above 15 days a month
  -  Refractory to conventional treatments such as, orally administered analgesics, systemic muscular relaxant, corticoids and antidepressant like Amytriptiline
  -  Treated and controlled in the University Hospital Neurology Clinic over 2 years with duration of symptoms over 3 years
  Exclusion Criteria:
  -  Pregnancy
  -  Use of headache prophylactic treatment a month prior to infiltration
  -  Myasthenic syndromes
  -  Muscular dystrophies
  -  Inflammatory myopathies
  -  Acute and chronic polineuropathies
  -  Use of psychotropic substances 24-hour before infiltration
  -  Anticoagulant treatment
  -  terminal illnesses (AIDS, cancer)
  -  drugs or alcohol abuse

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

Clinical trial: Identification of Gene Polymorphism in Patients With Sick Sinus Syndrome in Chinese Population in Taiwan

Summary: Background: Sinus node dysfunction is a major cause of bradycardia necessitating pacemaker implantation. Evidences of genetic study supported that some genes involved in the pacemaker current or renin-angiotensin system were related to sinus node dysfunction. However, the influence of gene polymorphisms on sinus node dysfunction was not well studied.
  Methods: A group of 100 patients with documented sinus node dysfunction and 100 age- and sex- matched healthy control patients will be enrolled into this study. Gene polymorphism study includes the angiotensin-I converting enzyme gene, angiotensin II type 1 receptor gene, HCN1-4, SCN5A, KCNE and other possible gene polymorphisms which are related to sinus node function based on previous reports. Genetic polymorphisms are identified with polymerase chain reaction-based restriction analysis. Comparison of multiple haplotype analysis and single-locus analysis will be analyzed between the cases and controls.
  Estimated Results: Some genetic polymorphisms of these genes which are related to sinus node function or rennin-angiotensin system will show association with sinus node dysfunction. In multilocus haplotype analysis, some genetic haplotype profiles may demonstrate significant difference between cases and controls. In single locus analysis, some genetic polymorphisms may be associated with sinus node dysfunction.
  Estimated Conclusion and Clinical Implication: This study will demonstrate the genetic polymorphisms in RAS genes or some other genes associated with sinus node dysfunction. These results will support the roles of these genetic polymorphisms in determining the risk of sinus node dysfunction among the Chinese population in Taiwan.


Eligibility: Inclusion Criteria:
  1. Heart rate was less than 40/min or long pause more than 3 seconds in series EKG or 24-hour EKG.
  2. Sinus nodal recovery time exceeds 1600 ms in cardiac electrophysiology study.
  Exclusion Criteria:
  1. Severe systemic disease.
  2. Acute coronary syndrome.
  3. Bradycardia with reversible cause.

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

Clinical trial: Comparative Study of Flecainide CR and Placebo in the Early Treatment of Atrial Fibrillation.

Summary: The purpose of the study is to assess the efficacy of flecainide controlled release (CR) in the prevention of recurrent AF during 9 months of active treatment compared to placebo in patients with only one documented AF episode.


Eligibility: Inclusion Criteria:
  -  History of first symptomatic & documented episode of AF
  -  LVEF > 40% and not on AAD and in sinus rhythm at time of recruitment
  Exclusion Criteria:
  -  History of more than 1 symptomatic documented AF episode, persistent or permanent AF.
  -  History of ablation for previous AF
  -  Reversible cause for AF (e.g.thyroid, alcohol, pulmonary embolism, surgery
  -  Severe symptoms during AF episode (e.g.syncope, chest pain)
  -  All types of treated arrhythmias other than AF
  -  History of myocardial infarction (MI), coronary artery disease (CAD), heart failure (I, II, III and IV of New York Heart Association -NYHA- classification) or valvular diseases
  -  Left ventricular ejection fraction (LVEF) ≤ 40%
  -  Bradycardia < 40 beats/min and all ECG abnormalities: PR> 240ms or QRS> 120 ms or QTc> 440 ms
  -  Brugada syndrome
  -  Conduction disturbances: complete bundle branch block (LBBB) or (RBBB), bifascicular block
  -  2nd or 3rd degree atrioventricular (AV) block
  -  Sinus node dysfunction
  -  Severe hypertension with:Systolic blood pressure ≥ 180 mmHg, and / or· Diastolic blood pressure ≥ 100 mmHg
  -  Left ventricular hypertrophy (LVH) with septal thickness > 14 mm on Echocardiogram
  -  Implanted pacemaker
  -  Heart surgery within the last 6 months, or non-stable postoperative condition
  -  Renal failure: serum creatinine ≥ 150 µmol/l or creatinine clearance ≤ 50 ml/min (Cockroft and Gault formula
  -  Uncorrected electrolytic abnormalities
  -  Have used recently in the last 3 months prior to the inclusion any of the following treatments: Oral amiodarone, Treatments that lengthen QT interval (e.g.Sultopride, Drugs causing torsades de pointe (e.g.mizolastine, pentamidine, sparfloxacin, moxifloxacin, Bupropion
  -  Anti-hypertensive drugs other than permitted in the study: ACE-I, ARB (sartans) and DHP from Calcium channel blockers (CCB

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

Clinical trial: Phase 2 Study of Safety, Tolerability, and Immunogenicity of Three Dose Levels of ACAM3000 Smallpox Vaccine

Summary: A phase 2 study to assess the MVA smallpox vaccine in previously vaccinated and vaccine- naive subjects at three dose levels.

Detailed description: This study will be a randomized, double-blind, placebo-controlled out-patient study conducted in multiple centers in the United States (US). Up to 700 healthy male and female adult subjects 18 to 55 years of age (inclusive), who have been previously vaccinated or subjects who are naïve to smallpox vaccine will be enrolled. Subjects will be randomized to 1 of 8 treatment groups with 100 (or 50 placebo) subjects per group in which they will receive either ACAM3000 MVA Smallpox Vaccine (1 of 3 dose levels) or placebo on Study Days 0 and 28. All personnel associated with the trial will be blinded as to treatment, with the exception of the study pharmacist who prepares the treatment for administration to each subject. There are 2 control groups in this study. A comparison of adverse events and other safety assessments between placebo and ACAM3000 MVA Smallpox Vaccine will be performed. In addition to serving as a control for safety, the previously vaccinated subjects receiving placebo will serve as a control for antibody and T-cell responses in persons with preexisting immunity who receive ACAM3000 MVA Smallpox Vaccine. Safety, tolerability, and immunogenicity data for 110 subjects undergoing primary immunization with graded doses of ACAM3000 MVA Smallpox Vaccine will be available following completion of Acambis protocol H-249-001, an ongoing phase I clinical trial. The doses levels in this study may be changed following the availability of results from protocol H-249-001. Statistical analysis will focus on comparisons among the dose levels of ACAM3000 MVA Smallpox Vaccine and comparisons of ACAM3000 MVA Smallpox Vaccine to placebo, as appropriate. A separate analysis will be performed for previously vaccinated and naïve subjects. Descriptive statistics will be used to compare demographic and baseline clinical data between stratum.

Eligibility: Inclusion Criteria:
  -  subjects must be in good general health, checked on toxicity grading table.
  -  for previously vaccinated subjects- must be between the ages of 33 and 55 with a previous vaccine more than 10 years ago.
  -  for vaccine naive subjects- must be between the ages of 18 and 32, and have never been vaccinated for smallpox.
  -  Female subjects must not be pregnant or lactating.
  Exclusion Criteria:
  -  Subjects who participated in a "first responder" program.
  -  any history of immunodeficiency.
  -  any autoimmune disease
  -  any history of cardiac disease
  -  any diagnosed risk factors for ischemic coronary disease
  -  any history of heart palpitations or abnormalities in cardiac rhythm.
  -  any current or history of eczema of any description.
  -  Known allergy to MVA or any of its components, including eggs or egg products.
  -  morbid obesity

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

Clinical trial: Genes That Affect Disease Outcome in Patients With Metastatic Colorectal Cancer

Summary: RATIONALE: Studying samples of blood and tumor tissue in the laboratory from patients with cancer may help doctors learn more about changes that occur in DNA and help doctors understand how patients respond to treatment.
  PURPOSE: This clinical trial is examining genes that affect disease outcome in patients with metastatic colorectal cancer.

Detailed description: OBJECTIVES:
  -  Collect blood samples for DNA extraction for genetic studies from patients receiving chemotherapy for metastatic colorectal cancer.
  -  Collect detailed clinical, pathological, and chemotherapy data from these patients.
  -  Identify genetic factors that relate to treatment response and outcome in these patients.
  OUTLINE: Blood samples are collected and relevant genes and regions are amplified by PCR. PCR products are then sequenced or genotyped for known biological markers and single nucleotide polymorphisms. Tumor samples from surplus pathology specimens are analyzed for expression of candidate genes and mutation in the candidate genes.
  Clinical and family history data is also collected by questionnaire.
  PROJECTED ACCRUAL: A total of 800 patients will be accrued for this study.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of metastatic colorectal cancer
  -  Currently receiving chemotherapy at Weston Park Hospital
  PATIENT CHARACTERISTICS:
  -  Not Specified
  PRIOR CONCURRENT THERAPY:
  -  See Disease Characteristics

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

Clinical trial: Risk of Life-threatening Heart Rhythm Disturbances in Siblings

Summary: The purpose of this study is to determine if heredity influences the risk of life-threatening heart rhythms (ventricular tachycardia and ventricular fibrillation) after heart attack (myocardial infarction).

Detailed description: Greater than 400,000 persons die suddenly each year in the US. The implantable cardioverter-defibrillator (ICD) has revolutionized the primary prevention of sudden cardiac death (SCD) following myocardial infarction (MI), however, risk stratification remains limited and rests solely on the identification of left ventricular dysfunction. The goal of this study is to determine if genetic factors influence the risk of ventricular arrhythmia remotely after myocardial infarction.
  In order to determine if ventricular tachycardia or ventricular fibrillation remotely after MI is a heritable trait, we will conduct a family based case-control sibling study of patients who have received an ICD for ischemic cardiomyopathy. As a first step, we will utilize the GENECARD registry, an existing family linkage study of premature cardiovascular disease, to determine the prevalence of sibling concordance for ICD implantation following MI. Probands and siblings in the GENECARD study will be surveyed regarding their ICD history. The sibling recurrence risk ratio for ICD implantation following MI and subsequent ICD therapies will be used to estimate the sample size required to validate heritability, in a larger patient population. In the validation phase of this protocol, we will use a (1) single healthcare system database (Duke Cardiovascular Databank) and a (2) regional population-based registry, in order to determine concordance for ICD therapies. Patients who agree to participate and provide informed consent will be surveyed regarding their personal ICD history and that of their siblings. The prevalence of ICD therapies will be ascertained in the probands, siblings, and the overall cohort. Sibling concordance for ICD implantation and sibling concordance for subsequent appropriate ICD therapies will be used to determine the sibling recurrence risk ratio for appropriate ICD therapies remotely after MI.

Eligibility: Inclusion Criteria:
  -  patients must be alive
  -  have a history of coronary artery disease / myocardial infarction
  -  left ventricular ejection fraction ≤ 35%
  -  received an implantable cardioverter- defibrillator
  Exclusion Criteria:
  -  nonischemic cardiomyopathy
  -  Pre-identified hereditary arrhythmia syndrome (e.g. long QT syndrome, Brugada syndrome, etc)
  -  left ventricular ejection fraction >35%
  -  no implantable cardioverter-defibrillator

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

Clinical trial: Alpha Lipoic Acid and Polycystic Ovary Syndrome

Summary: The study will recruit 40 subjects with Polycystic Ovary Syndrome (PCOS) as defined by the NIH criteria. The subjects will be pre-screened for insulin sensitivity using fasting insulin and glucose levels and oral glucose tolerance test. The 20 most insulin resistant subjects will undergo measurements of in vivo insulin action by hyperinsulinemic, euglycemic clamp. Body composition will be measured by dual-energy X-ray absorptiometry (DEXA). Plasma lipids and markers of oxidative stress will be measured. They will then receive open label controlled release alpha lipoic acid (CRLA) at 800 mg twice daily for 16 weeks. After treatment hyperinsulinemic euglycemic clamps, DEXA, plasma lipids and markers of oxidative stress will be repeated.
  Hypotheses: LA will improve insulin sensitivity in PCOS subjects; LA will reduce oxidative stress, testosterone levels and improve cardiovascular risk factors.

Detailed description: Insulin resistance commonly occurs in patients with Polycystic Ovary Syndrome (PCOS) and may be responsible for many of the long term complications of PCOS. Patients with PCOS are at increased risk for developing type 2 diabetes and the metabolic syndrome (hypertension, dyslipidemia and cardiovascular disease). Data suggest that oxidative stress contributes to insulin resistance and thus inhibitors of oxidative stress improve insulin action. Alpha Lipoic Acid (LA) is synthesized in the liver and other tissues and is a key component of several mitochondrial enzyme complexes responsible for oxidative glucose metabolism and cellular energy production. When used pharmacologically, LA functions as a safe and effective antioxidant, recycling vitamins C and E,elevating glutathione levels,and lowering reactive oxygen species. Cell culture studies reveal that LA reverses the effects of oxidative stress and improving insulin action. Preliminary clinical data indicate that antioxidants may improve insulin resistance in PCOS patients. We propose, therefore, to study LA's effects on insulin-stimulated glucose uptake (insulin clamp) in a well characterized population of insulin resistant PCOS patients. Because these patients usually present in the adolescent and teenage years, the development of safe, long-term, treatment strategies are needed.

Eligibility: Inclusion Criteria:
  -  PCOS diagnosis
  -  18 years of age or older
  -  Body Mass Index below 35
  -  Willing to use any form of contraception for the duration of the study
  Exclusion Criteria:
  -  Diabetes
  -  Pregnancy
  -  Liver or heart disease or other health problems
  -  Taking medications that affect insulin resistance

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

Clinical trial: Axillary Reverse Mapping

Summary: We hypothesize that variations in anatomic location of the arm lymphatic drainage system put the arm lymphatics at risk for disruption during a SLNB and / or ALND. Therefore, mapping the drainage of the arm during the procedure would decrease the likelihood of inadvertent disruption of the lymphatics and the subsequent development of lymphedema. A combination of radioactivity and blue dye will be used.

Detailed description: Mapping Procedure:
  Each patient will receive an injection of 1.0 mCi of technetium-99m sulfur colloid into the normal breast tissue surrounding the primary cancer or biopsy cavity directed subareolar or around the tumor.
  If the radioactive SLN cannot be located prior to incision via gamma probe then the blue dye will be used in the breast either in the subareolar plexus or peritumorally at the discretion of the surgeon. For this contingency (expected to occur <3% of the time), the blue dye will be used in the breast (and NOT the arm), as the prime concern is locating the SLN for staging.
  If the blue dye is unnecessary to find the sentinel node draining from the breast, then it will be injected dermally in the upper inner arm along the Biceps groove of the ipsilateral arm in order to locate the draining lymphatics from the arm. No more than 5cc of blue dye will be injected in either the subareolar plexus, peritumorally (intraparenchymal or dermally), or dermally in the patient's ipsilateral arm dependent upon the contingencies stated above. Site of all injections (radioactivity and/or blue dye) will be recorded.

Eligibility: Inclusion Criteria:
  -  18-100 years old
  -  Not pregnant or breastfeeding
  -  Breast cancer requiring lymph node evaluation for the ipsilateral or contralateral breast OR prophylactic mastectomy
  -  Willing participation following an informed consent process
  Exclusion Criteria:
  -  Patient < 18 y/o or > 100 y/o
  -  Pregnant or breastfeeding
  -  If a pregnant female should be diagnosed with breast cancer an exception would be considered on a case to case basis.

Relevance to patient case: not relevant