araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Neurogenic Mechanisms in Burning Mouth Syndrome

Summary: Burning mouth syndrome (BMS) is characterized by a bilateral burning sensation in the anterior tongue, hard palate and lips in the absence of any clinical or laboratory findings. The term syndrome implicates the simultaneous presence of oral dryness (xerostomia) and altered taste (dysgeusia) in addition to the burning sensation in the oral mucosa. BMS is most often seen in women and is more frequent during menopause. The etiology and pathogenesis are still unclear but recent studies suggest that BMS is a neuropathic pain condition.
  The objectives of the study are:
  -  To clarify potential neurogenic mechanisms behind BMS using immunohistochemistry (IH) to characterize the localization and distribution of peripheral nerve fibres, neuropeptides like substance P, calcitonin gene-related peptide, nerve growth factor, nerve growth factor receptor, PGP 9.5 neuronal marker and TRPV1 as well as inflammatory/structural changes.
  -  To perform a randomized double blind cross-over intervention study to examine the efficacy and safety of topical application of capsaicin oral gel (on the tongue) to relieve the burning sensation in patients with BMS.

Detailed description: Data which support the hypothesis that BMS is a neuropathic pain condition include amongst others a recent clinically controlled study that has shown up-regulation of TRPV1-positive nerve fibres in tongue mucosa in patients with BMS. The vanilloid receptor-1 (TRPV1) is a voltage-dependent cation channel expressed by the unmyelinated C-nociceptive nerve fibres and the receptor may be activated by capsaicin (from chili peppers), heat and H+. Capsaicin binds to the TRPV1 receptor causing depolarization of the C-nociceptors. Prolonged activation of these neurons by capsaicin depletes pre-synaptic substance P and makes them unable to report pain.

Eligibility: Inclusion Criteria:
  -  non-smoking female patients with burning mouth syndrome (n=26)
  -  healthy aged-matched control group (n=10)
  Exclusion Criteria:
  -  pregnancy and lactation (inclusion requires negative pregnancy test)
  -  women who do not use safe anticonception
  -  patients with know allergy/hypersensitivity to capsicum and other capsaicinoid-containing products
  -  Active infection which requires antibiotic treatment
  -  use of mouthrinse. The use of these is stopped 14 days before inclusion
  -  patients who are able to give informed consent due to physical or mental disabilities

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Melanoma Molecular Profiling Analysis

Summary: There is a significant need to develop new and more effective ways to treat melanoma that will decrease patient morbidity and mortality. This protocol intends to collect and process a portion (< 20% of any node) of lymph nodes from melanoma patients undergoing routine surgical SLN resection: the SLN(s) and 1 adjacent non-SLN(s) are planned for study. In addition, blood will be drawn at the pre study visit (serum and peripheral blood mononuclear cells) and appropriate lineage control tissue will be collected. Material only from already-indicated and planned procedures as part of standard medical care will be used. The main goal of this study will be to properly collect and process material to be analyzed and explore the molecular features melanoma biological samples.


Eligibility: Inclusion Criteria:
  -  Primary melanoma with the following Breslow thickness and stage
  -  ≥ 2 mm with ulceration, T3b
  -  ≥ 4 mm without (T4a) or with (T4b) ulceration
  -  Patients with a biopsied tumor that has not been widely resected will also be eligible for study according to the above-specified criteria for tumor thickness and stage.
  -  Age 12 years or older.
  -  Patients must have documented hemoglobin level of 10g/dL or higher. This can be drawn on the day of consent, or be documented from a previous visit within the past 30 days
  -  Subjects must have provided written, informed consent prior to any study procedures: collection of blood and LN tissue specimens for this protocol.
  Exclusion Criteria:
  -  Serious illnesses that may be considered a contraindication to surgery as determined by the physician investigator. If a subject is cleared for surgery as clinically indicated (wide excision of the primary melanoma and sentinel lymph node biopsy), subject would be eligible.
  -  Any significant psychiatric disease, medical intervention, or other condition, which in the opinion of the Principal Investigator or Co-Investigators, could prevent adequate informed consent or compromise participation in the clinical trial.
  -  Active infection or antibiotics within one-week prior to study
  -  Systemic steroid or other immunosuppressive therapy administered for more than 10 days within 4 weeks of enrollment.

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Variance of Oral Methadone Dosage: Description of Implicated Factors

Summary: The purpose of this study is to describe clinical, pharmacokinetic and genetic factors associated with the variance of oral methadone dosage for patients at the steady state of heroin dependence maintenance treatment. The hypothesis is that the investigators can predict 70% of the variance with few factors, including CYP 3A4 function measured with oral midazolam challenge.

Detailed description: Patients at the steady state of methadone maintenance treatment may receive oral dosage ranging from 5 to 130 mg per day in our clinical practice. This study is aimed at providing a comprehensive cross-sectional description of factors involved in this variance:
  -  comorbidity with addictive and psychiatric disorders
  -  severity of pre-existing heroin dependence
  -  function of CYP 3A4 enzyme assessed with oral midazolam challenge
  -  genetic polymorphisms of enzymes implicated in methadone pharmacokinetic and pharmacodynamic (CYPs, MDR1, OPRM1, COMT)
  The expected result is a predictive equation of oral methadone dosage at steady state.

Eligibility: Inclusion Criteria:
  -  heroin dependence
  -  under maintenance treatment with methadone
  -  at steady state: stable oral methadone dosage since 3 months at least
  Exclusion Criteria:
  -  current heroin dependence or abuse
  -  current cocaine and/or alcohol and/or sedatives dependence
  -  pregnancy

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Breast Cancer Risk in Women Who Are BRCA1/BRCA2 Mutation Carriers

Summary: This research study is looking at breast cancer risk in women who are BRCA1/BRCA2 mutation carriers. Studying samples of DNA in the laboratory from women who are BRCA1/BRCA2 mutation carriers may help doctors identify biomarkers related to cancer.

Detailed description: OBJECTIVE:
  I. To identify potential genetic modifiers of breast cancer risk in women who are carriers of the breast cancer susceptibility genes, BRCA1/2, by collecting data and genetic information from GOG-0199 and contributing it to the Consortium of Investigators of Modifiers of BRCA-Associated Breast Cancer (CIMBA), an international consortium of clinical cancer genetics investigators.
  OUTLINE: This is a multicenter study. Patients are stratified by study, country of residence, ethnicity, and birth cohort. Joint analyses of BRCA1 and BRCA2 mutation carriers are further stratified by mutation.
  Previously collected DNA samples and associated clinical information obtained from BRCA mutation-positive participants enrolled on GOG-0199 are studied. DNA samples are analyzed by mutation testing for variants (i.e., single nucleotide polymorphisms [SNPs]) in candidate genes of interest. Once genetic testing for a given set of variants has been completed, the coded laboratory data file is merged with selected demographic, clinical, and epidemiological data obtained from the GOG-0199 baseline questionnaire and submitted to the Consortium of Investigators of Modifiers of BRCA-Associated Breast Cancer (CIMBA) Central Database to analyze and publish the data. The epidemiological and SNP data contributed to the central database are then distributed to the investigators responsible for analysis of a particular SNP or set of SNPs from a candidate gene or genetic pathway.

Eligibility: Inclusion Criteria:
  -  Women with or without a personal history of breast cancer prior to enrollment in Gynecologic Oncology Group (GOG)-0199
  -  Known currently to be BRCA1/2 mutation carrier either by confirmed outside report or by research testing
  -  No BRCA1/2 mutation-negative or mutation-unknown status
  -  Enrolled on clinical trial GOG-0199 AND meets the following criteria:
  -  Completed baseline questionnaire (BQ-199)
  -  Provided information on previous breast cancer history, including date of diagnosis
  -  Provided complete data from the DNA analysis on the genetic variants of interest
  -  Available DNA samples for analysis
  -  Hormone receptor status not specified
  -  Pre- or post-menopausal status

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: A Pharmacokinetic And QT Study Of CP-751,871 In Healthy Subjects

Summary: This study is primarily to evaluate the single dose pharmacokinetics of CP-751,871 and its effect on QT interval prolongation.

Detailed description: This study was terminated on October 30th, 2009. While the study was terminated due to adverse events and altered benefit/risk ratio in healthy subjects, the findings in healthy volunteers are not considered to alter the benefit/risk evaluation of figitumumab in cancer patients. No changes due to the termination of this study are anticipated in the conduct of the ongoing cancer patient studies with figitumumab at this time.

Eligibility: Inclusion Criteria:
  -  Healthy male subjects and/or healthy female subjects of non-childbearing potential between the ages of 18 and 55 years, inclusive
  -  Body Mass Index (BMI) of 17.5 to 30.5 kg/m2; and a total body weight >50 kg (110 lbs).
  Exclusion Criteria:
  -  Evidence or history of clinically significant hematological, renal, endocrine, pulmonary, gastrointestinal, cardiovascular, hepatic, psychiatric, neurologic, or allergic disease (including drug allergies, but excluding untreated, asymptomatic, seasonal allergies at time of dosing).
  -  12-lead ECG demonstrating QTc >450 msec at screening or other clinically significant abnormalities at screening.
  -  History or family history of risk factors for QTc interval prolongation or torsades de pointes (eg, organic heart disease, congestive heart failure, hypokalemia, hypomagnesemia, congenital long QT syndrome, myocardial ischemia or infarction); family history of sudden death.

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Exercise Training in ICD Recipients; Effect on Therapy Delivered, Depression and Anxiety

Summary: Interventional study in patients with ICD. Controlled, open intervention with exercise training. Assessment of changes in physiological and psychological parameters.

Detailed description: ICD therapy with DC shock is associated with impaired quality of life and development of anxiety and depression. In a selected group of patients with ICD the intervention with organized high intensity training is evaluated. Peak VO2, inflammatory profile, performed interventions by the ICD and psychological profile is assessed. In addition a qualitative evaluation using interviews is performed.

Eligibility: Inclusion Criteria:
  -  Inclusion criteria: Age 18 years or above, documented coronary heart disease, myocardial scar tissue verified by CMR, implanted ICD
  Exclusion Criteria:
  -  Planned revascularisation by bypass surgery or percutaneous coronary intervention following the ICD implantation, planned arrhythmia ablation, long QT-syndrome, Brugada syndrome, WPW syndrome, Drug-induced torsades, catecholaminergic polymorphic ventricular tachycardia, Hypertrophic cardiomyopathy right ventricular cardiomyopathy, dilated cardiomyopathy, Aortic stenosis, mitral valve prolapse, anomalous origin of coronary arteries, Myocardial bridging, ongoing myocarditis, recent chest trauma,

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: A Non-Interventional Post-Marketing Surveillance Study to Evaluate the Safety and Efficacy of Zeldox Capsule

Summary: This is a regulatory-required non-interventional pharmacovigilance study exploring the safety profile of ziprasidone HCL monohydrate 20mg, 40mg, 60mg, 80mg in the real world patient population, thus, safety (and/or efficacy) signals will be checked at every visit during the contracted study period until the maximum study end date, per the protocol, of April 2010.

Detailed description: All patients diagnosed with schizophrenia or acute manic or mixed episodes associated with bipolar disorder, with or without psychotic features will be included in the study.

Eligibility: Inclusion Criteria:
  -  Patients diagnosed with schizophrenia
  Exclusion Criteria:
  -  Patients who have known hypersensitivity to any ingredient of the product
  -  Patients who have had a recent acute myocardial infarction
  -  Patients who have uncompensated heart failure
  -  Patients who have conditions with a potential to increase QT interval (QT-interval prolongation or history of QT prolongation; congenital long QT syndrome; use with other drugs known to increase the QT interval; arrhythmias treated with class I and III antiarrhythmic drugs)

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Phase 2 Study of Oral K201 for Prevention of AF Recurrence

Summary: To evaluate the safety, efficacy, and tolerability of 3 doses of K201 (oral) administered for up to 28 days in subjects with recent DC cardioversion to sinus rhythm from sustained symptomatic atrial fibrillation (AF duration >3 days and <6 months).


Eligibility: Inclusion Criteria:
  -  Symptomatic AF (sustained >3 days and <6 months) and clinically indicated for cardioversion;
  -  Adequate anticoagulant therapy for cardioversion in accordance with standard practice as recommended by ACC/AHA/ESC guidelines or with local clinical practice;
  -  Hemodynamically stable (90 mmHg < systolic blood pressure < 190 mmHg)at screening and on Day 1;
  Exclusion Criteria:
  -  Known prolonged QT syndrome or QTc interval of >0.500 sec at screening; familial long QT syndrome; previous Torsade de Pointes; ventricular fibrillation; or sustained ventricular tachycardia (VT);
  -  QRS >0.130 sec;
  -  Previous episodes of second- or third-degree atrioventricular block;
  -  Unsuccessful DC cardioversion attempt within 3 months; prior ablation for AF;
  -  Persistent bradycardia with ventricular rate below 50 beats/min, sick-sinus syndrome or pacemaker (including CRT, AICD);
  -  Myocardial infarction (MI), cardiac surgery, angioplasty, unstable angina or acute coronary syndrome within 30 days prior to entry into the study;
  -  NYHA Class III or Class IV heart failure (HF) at screening or admission, or hospitalized for HF in previous 6 months;
  -  Known concurrent temporary secondary causes of AF;
  -  Received a Class I or Class III antiarrhythmic agent (including sotalol) within 5 half-lives of randomization or amiodarone or dronedarone within 4 weeks;
  -  Received treatment with other drugs known to prolong the QT interval within 5 half-lives.

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: A Study to Evaluate the Effect of Mipomersen on Cardiac Repolarization Conducted in Healthy Subjects

Summary: To assess the electrocardiogram (ECG) effects of mipomersen administered as a 200-mg subcutaneous (SC) therapeutic and a 200-mg intravenous (IV; [2-hour infusion]) supra-therapeutic dose relative to placebo in healthy adult male and female subjects; and to evaluate the safety and pharmacokinetics (PK) of mipomersen when administered as a single therapeutic (200 mg) SC and a single, supra-therapeutic (200 mg) IV dose.

Detailed description: This will be a randomized, double-blind, single-site, crossover study in healthy male and female subjects to determine if mipomersen administered as a single therapeutic (200 mg) SC and a single supra-therapeutic (200 mg) IV dose delays cardiac repolarization as determined by the measurement of QT/corrected QT (QTc) interval. A total of 60 healthy male and female subjects will be enrolled in this 4-way crossover study, randomly assigned to 1 of 8 treatment sequences, and cross over into 4 treatment periods where each subject will receive both a single SC injection and a single IV infusion during each period.

Eligibility: Inclusion Criteria:
  -  Written informed consent provided before any study-related procedures are performed.
  -  Body mass index (BMI) of 19 to 32 kg/m2 inclusive.
  -  Subjects can not have consumed nicotine or nicotine-containing products for at least 6 months before Screening.
  -  Subjects are nonpregnant and nonlactating, surgically sterile, postmenopausal, abstinent, or subject or partner is willing to use a reliable method of contraception during the study and 5 months after the last dose of investigational product.
  Exclusion Criteria:
  -  History of risk factors for Torsades de Pointes, known Long QT Syndrome, heart failure, myocardial infarction, angina, or clinically significant abnormal laboratory assessments or family history of Long QT or Brugada Syndrome.
  -  Abnormal screening ECG that is interpreted by the Investigator to be clinically significant.
  -  Use of concomitant medications (prescribed or over-the-counter), without the approval of the Investigator and Sponsor, within 7 days before the first dose of investigational product.
  -  Clinically significant abnormal findings on the physical examination, ECG, blood pressure, heart rate, medical history, or clinical laboratory results at Screening or before dosing.
  -  History of clinically significant allergies or hematological, endocrine, pulmonary, gastrointestinal, cardiovascular, hepatic, psychiatric, or neurological disease.
  -  Positive test for HIV antibody, hepatitis C antibody, or hepatitis B surface antigen.
  -  Positive test for drugs of abuse, alcohol, or cotinine at Screening or before dosing or history of drug or alcohol abuse or dependence within 1 year before Screening.
  -  History of cancer, with the exception of basal cell carcinoma.

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: One-Year Trial of Oral Ziprasidone in Bipolar Patients With Metabolic Syndrome

Summary: The purpose of this study is to explore the impact of Ziprasidone HCl on the distribution of metabolic syndrome (MS) risk factors in a population of Bipolar patients presenting with glucose intolerance, dyslipidemia and/or elevated waist circumference associated with their current antipsychotic medication.

Detailed description: The trial was terminated prematurely on December 14, 2010, due to inability to recruit the planned number of subjects and shifting organizational priorities. The decision to terminate the trial was not based on any safety or efficacy concerns.

Eligibility: Inclusion Criteria:
  -  Subject must present at least 2 of the following risk factors of MS at screening: Elevated waist circumference: >102 cm in men and >88 cm in women; Elevated triglycerides (TGs): ≥1.7 mmol/L (≥150 mg/dL); Reduced HDL-Cholesterol: <1.03 mmol/L (<40 mg/dL) in men and <1.3 mmol/L (<50 mg/dL) in women; Elevated fasting glucose: ≥ 5.6 mmol/L.
  -  According to the clinical judgment of the investigator, the risk factors for MS have developed in close temporal relationship to starting an antipsychotic medication.
  -  Substitution to a less metabolically disruptive antipsychotic medication is considered
  Exclusion Criteria:
  -  Subjects with contraindication(s) to the use of Ziprasidone according to Canadian prescribing information.
  -  Subjects with a history of treatment resistance.
  -  Subjects with any medical condition (e.g. pre-existing diabetes, pre-existing dyslipidemia, thyroid pathology) or taking any concomitant medication (e.g. topiramate or other weight loss-promoting agents, hypoglycemic agents, hypolipemic agents), that may confound the evaluation of the study drug.
  -  Body mass index ≥ 40 at baseline.

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Preoperative Localisation of the Sentinel Lymph Node in Breast Cancer

Summary: When a person has breast cancer it is necessary to find out whether the cancer has spread to the lymph nodes in the armpit because if it has, further treatment is likely to be needed. There are many of these nodes but when the breast cancer spreads, it does so in a step-by-step fashion, starting with the so-called Sentinel Lymph Node (SLN). At present, the only way to be sure whether there is cancer in the lymph nodes or not is to perform an operation to remove at least the SLN. If the pathologist finds cancer in the SLN, a second operation is usually required to remove further nodes in case they contain cancer too. Surgical removal of the lymph nodes in the armpit can cause difficulties for the patient afterwards, such as pain and swelling in the arm. If there is no cancer in the SLN, no further operations on the armpit are needed. The investigators wish to find out whether in some patients, operations on the armpit can be avoided completely. The first step in doing this is to test whether the investigators can find out which is the SLN before the operation, using a combination of an injection and ultrasound scanning. The injection - into the skin of the breast - would be a radioactive substance, which is the usual way the surgeon finds the SLN. The radioactive substance collects in the SLN and the investigators would use a "gamma probe" over the surface of the armpit to detect the radiation. In this initial study, the investigators would aim to find the SLN before the operation and place a marker wire in it so that the surgeon could check whether the investigators had found the correct node.


Eligibility: Inclusion Criteria:
  -  Diagnosed with invasive breast cancer suitable for primary surgical treatment
  -  Booked for surgical Sentinel Lymph Node Biopsy
  Exclusion Criteria:
  -  Unable to give informed consent
  -  Known bleeding disorder
  -  Previous axillary surgery
  -  Previously treated for the current tumour with chemotherapy or hormone therapy

Relevance to patient case: not relevant