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

Clinical trial: Thorough QT (TQT) Study of TD-4208 in Healthy Subjects

Summary: The purpose of this study is to evaluate if TD-4208, an investigational drug being developed to treat people with chronic obstructive pulmonary disease (COPD), has any effect on the electrical activity of the heart.


Eligibility: Inclusion Criteria:
  -  Subject has a body mass index (BMI) of 19 to 32 kg/m2, inclusive, and weight of at least 55 kg.
  -  Subject is able to communicate well with the investigator and to comply with the study procedures, requirements, and restrictions.
  Exclusion Criteria:
  -  Subject has a prior history of myocardial infarction, acute coronary syndrome, cerebrovascular accident, transient ischemic attack, ventricular tachycardia, atrial fibrillation, personal or known family history of congenital long QT syndrome or known family history of sudden death with unknown cause, a pacemaker or implantable cardioverter defibrillator, cardiac or cerebral stent placement or angioplasty, or clinically significant valvular heart disease.
  -  Subject has evidence or history of clinically significant allergic (except for untreated, asymptomatic, seasonal allergies at time of dosing), hematologic, endocrine, pulmonary, gastrointestinal, cardiovascular, hepatic, psychiatric, or neurological disease.

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

Clinical trial: A Study of Rovalpituzumab Tesirine to Study Cardiac Ventricular Repolarization in Subjects With Small Cell Lung Cancer

Summary: Study to evaluate the effect of rovalpituzumab tesirine on cardiac ventricular repolarization in subjects with small cell lung cancer (SCLC).


Eligibility: Inclusion Criteria:
  -  Histologically or cytologically confirmed extensive-stage small-cell lung cancer (SCLC).
  -  Eastern Cooperative Oncology Group (ECOG) performance status of 0 to 2.
  -  Adequate hematologic and organ function as confirmed by laboratory values
  Exclusion Criteria:
  -  Clinically significant cardiac abnormalities including QRS duration of >120 msec; QTcF >470 msec for women and >450 msec for men; Abnormal cardiac rhythm; Clinically significant cardiac valve abnormality; Documented history of left ventricular ejection fraction <0.30 within 6 months; Permanent pacemaker or automatic implantable cardioverter defibrillator; History of torsades de pointes, congenital long QT syndrome, or family history of long QT syndrome or sudden death
  -  Recent or ongoing serious infection
  -  Women who are pregnant or breastfeeding
  -  Prior exposure to a pyrrolobenzodiazepine (PBD)-based drug, prior participation in a rovalpituzumab tesirine clinical trial, or known hypersensitivity to rovalpituzumab tesirine or excipient contained in the drug formulation.

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

Clinical trial: Efficacy and Safety of Adjunctive Pimavanserin for the Treatment of Schizophrenia (ENHANCE-1)

Summary: To evaluate the efficacy and safety of adjunctive pimavanserin compared with adjunctive placebo in the treatment of schizophrenia


Eligibility: Inclusion Criteria:
  1. Adults patients, between 18 and 55 years of age
  2. A clinical diagnosis of schizophrenia with a minimum duration of 1 year
  3. The main background antipsychotic with which the subject is being treated must be one of the antipsychotics listed below:
  -  Aripiprazole
  -  Aripiprazole long-acting injectables:
  -  Abilify Maintena®
  -  Aristada®
  -  Risperidone
  -  Risperidone long-acting injection
  -  Olanzapine
  -  Lurasidone
  -  Cariprazine
  -  Brexpiprazole
  -  Asenapine
  4. Has had a partial but inadequate response to antipsychotic treatment
  5. Has a history of response to antipsychotic treatment other than clozapine
  Exclusion Criteria:
  1. Patient has a psychiatric disorder other than schizophrenia
  2. Patient has a history of resistance to antipsychotic treatment
  3. A urine drug screen (UDS) result at Baseline that indicates the presence of any tested prohibited substance of potential abuse, except marijuana
  a. Patients with a result indicating the presence of marijuana are permitted if they agree to abstain from marijuana use during the study and the medical monitor approves the subject's participation
  4. Patient has current evidence of a serious and/or unstable psychiatric, neurologic, cardiovascular, respiratory, gastrointestinal, renal, hepatic, hematologic, or other medical disorder, including cancer or malignancies, which would affect the patient's ability to participate in the program
  5. Patient has had a myocardial infarction in the last six months
  6. Patient is taking a medication or drug that prolongs the QT interval or has a family or personal history or symptoms of long QT syndrome
  Patients will be evaluated at screening to ensure that all criteria for study participation are met. Patients may be excluded from the study based on these assessments (and specifically if it is determined that their baseline health and psychiatric condition do not meet all pre-specified entry criteria).

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

Clinical trial: Cortisone and QTc-Interval

Summary: Scientific and clinical data report about shortening of QTc-interval in patients treated with cortisone. Peal et al. analyzed chemical suppression of long QT syndrome (Type 2) in an in vivo zebrafish model. Their study revealed that flurandrenolide reproducibly suppressed the long QT phenotype via the glucocorticoid signaling pathway. In contrast to treatment with dexamethasone and testosterone, treatment with pure mineralocorticoid deoxycorticosterone acetate did not suppress long QT phenotype. Knockdown of the glucocorticoid receptor or, conversely, of the androgen receptor showed that flurandrenolide acting through the glucocorticoid receptor shortens ventricular action potentials. The mechanism is distinct from trafficking rescue of the defective zebrafish-ERG channel. The authors discuss that a drug normalizing repolarization would be a novel therapeutic tool in long QT syndrome and conclude that glucocorticoids could be expected to aid in the acute management of patients with long QT syndrome, e.g. in episodes of arrhythmic storm. In addition, corticoid induced normalization of the QT interval is reported in a patient with drug-induced prolongation of the QTc interval. Brostoff et al. report on a patient suffering from mucocutaneous leishmaniasis treated with sodium stibogluconate. During therapy, the QTc interval prolonged and returned to normal within 4 days after starting glucocorticoid therapy with prednisolone 20 mg twice daily.
  Interrogation of the study:
  -  shortens cortisone the QTc-interval?
  -  how long is the interval until shortening of QTc-interval?
  -  is the effect prolonged?
  -  is the effect dose dependend?


Eligibility: Inclusion Criteria:
  -  patients who underwent therapy with cortisone (>=40mg/d)
  Exclusion Criteria:
  -  patients with elevated intracranial pressure
  -  myocardial infarction within the last 6 months
  -  untreated stenosis of the coronary arteries
  -  right bundle branch block
  -  autoimmune disease

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

Clinical trial: Prevalence of BRCA1 and BRCA2 Mutations in Ovarian Cancer Patients in the Gulf Region

Summary: A prospective, multi-centre, epidemiological observational study designed to evaluate the prevalence of BRCA1 and BRCA2 (BReast CAncer gene) mutations in current and newly diagnosed ovarian cancer patients across different countries in the Gulf region. This study will also describe the epidemiological features for the disease for the enrolled patients.


Eligibility: Inclusion Criteria:
  1. Subjects willing to sign the informed consent form (ICF)
  2. Female subjects 18 years of age or older
  3. Have histologically confirmed diagnosis of Federation of Gynecology and Obstetrics (FIGO) ovarian epithelial, primary peritoneal cancer made by one or more of the following:
  1. Standard staging laparotomy including bilateral salpingo-oophorectomy,omentectomy, and lymph node sampling and debulking and/or
  2. Surgical resection and radiographic evidence consistent with ovarian cancer
  3. Paracentesis or biopsy with radiographic evidence consistent with ovarian cancer(normal appearing pancreas, liver, and gastrointestinal tract).
  4. Have availability of paraffin-embedded archived tumor tissue block (preferred) or, if a block is not possible, a minimum of twenty 10-um sections.
  Exclusion Criteria:
  Patients who meet any of the following criteria are ineligible to participate in the study and hence will not be consented:
  1. The diagnosis is not of a primary ovarian cancer; thus, patients will be excluded if a previous cancer has metastasized to the ovary, or if there is a secondary malignancy that is associated with the ovarian cancer.
  2. Is not able or willing to provide written informed consent.
  3. Have a diagnosis of other severe acute or chronic medical or psychiatric conditions that may increase the risk associated with study participation or may interfere with the interpretation of the study.
  4. Be a patient who, in the judgment of the Investigator, would be inappropriate for enrollment in this study.
  A rationale will be documented for all patients who are screened and ultimately excluded from the study as a result of meeting any of the aforementioned exclusion criteria

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

Clinical trial: PRKAA2 Genetic Polymorphisms and Its Susceptibility to Chinese Type 2 Diabetes Mellitus and Diabetic Nephropathy

Summary: Metformin is a classical oral antidiabetic drug, often recommended to be the first-choice treatment of type 2 diabetes mellitus (T2DM). Based on the previous research on PRKAA2, STK11 and diabetes, this study aimed to investigate the distributive characteristic of PRKAA2 and STK11 polymorphisms and the potential influence of STK11polymorphisms on metformin efficacy among Chinese T2DM patients, discuss the association of PRKAA2 polymorphisms between T2DM patients and healthy subjects.


Eligibility: Inclusion Criteria:
  -  diagnosed with T2DM in keeping with the WHO criteria in 1999 [14], with fasting blood glucose (FBG) ≥ 7.0mmol ⁄ L and ⁄ or postprandial blood glucose (PBG) ≥ 11.1mmol ⁄ L; not using other antidiabetic drugs within the experimental period.
  Exclusion Criteria:
  -  other significant illness such as cancer, myocardial infarction, stroke, severe liver, and kidney disease

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

Clinical trial: Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies

Summary: Patients with cardiac channelopathies needing restorative dental treatment will be included in two sessions of the study, using local dental anesthetic: lidocaine 2% with epinephrine and lidocaine 2% without vasoconstrictor. The safety of the use of two cartridges (3.6 mL) will be evaluated. The patients will be their own control and will be assessed by Holter monitoring for 28 hours, blood pressure measurement and anxiety measuring.

Detailed description: Patients of Heart Institute of the University of São Paulo with inherited cardiac channelopathies will be included, considering the criteria for inclusion and non-inclusion, after reading and signing the informed consent.
  They will undergo dental restorative treatment in two sessions, in the morning period, with an interval of at least seven days (wash-out) between them, and the patients will be their own control.
  In the first session, after randomization, patients will receive lidocaine 2% without vasoconstrictor (LSA) or lidocaine 2% with 1: 100,000 epinephrine (LCA) (cross-over), resulting in two conditions: with adrenaline and without adrenaline.
  The randomization of the anesthetic solution will be performed by the main researcher, being blind to the performer researcher and to the patient.
  The injected volume will be 3.6 mL (2 cartridges) of the anesthetic solution, using blocking technique of the inferior alveolar nerve.
  The patients will be monitored by Holter for 28 hours starting one hour before the procedure, for registration and analysis of cardiac electrical activity during the two sessions. Blood pressure will be monitored with digital sphygmomanometer and anxiety will be measured with Facial Image Scale, both on three occasions: at the beginning of the baseline periods, before starting application of anesthesia and at the end of the proceedings. The results will be analyzed statistically.

Eligibility: Inclusion Criteria:
  -  Patients with any channelopathies below, kept on optimal drug therapy, with or without ICD:
  Brugada Syndrome, Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia
  -  Dental caries or unsatisfactory restorations in the mandible, indicating restorative dental treatment
  Exclusion Criteria:
  -  Patients allergic to lidocaine
  -  Patients undergoing ICD therapy for less than three months
  -  Patients with recurrent syncope in the last three months
  -  Patients with sustained arrhythmias documented for less than 3 months
  -  Have received epinephrine in the last 24 hours

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

Clinical trial: Exploring Mechanisms and Morphology of QT Interval Prolongation

Summary: The projects will try and optimise the risk stratification for patients with Long QT syndrome by investigating how the exposure of physical and acoustic stress will affect the QT-dynamics and if beta blockers protect against arrhythmias by suppressing this dynamic QT-prolongation. Furthermore, the project will investigate the effects of Spironolactone on the QT-dynamics tested by "Brisk Standing".
  First, patients are tested with known arrhythmic triggers and they are then administered thier normal dose of beta blockers. Hereafter, "Brisk Standing" test is performed and the patients are on Spironolactone for seven days. After seven days treatment the "Brisk Standing" is repeated.

Detailed description: The aim of the projects is to try and optimise the risk stratification for patients with Long QT syndrome by investigating how the exposure of physical and acoustic stress will affect the QT-dynamics and if beta blockers protect against arrhythmias by suppressing this dynamic QT-prolongation. Furthermore, the project will investigate the effects of Spironolactone on the QT-dynamics tested by "Brisk Standing".
  First, patients are tested with known arrhythmic triggers and they are then administered thier normal dose of beta blockers. Hereafter, "Brisk Standing" test is performed and the patients are on Spironolactone for seven days. After seven days treatment the "Brisk Standing" is repeated.

Eligibility: Inclusion Criteria:
  -  Verified Long QT syndrome mutation, subtype 1 or 2.
  -  over 18 years of age
  Exclusion Criteria:
  -  Atrioventricular block,
  -  Left bundle branch block,
  -  Left ventricular hypertrophy,
  -  Pace rhythm,
  -  ST-deviations >1 mm),
  -  Left ventricular ejection fraction <50 % and significant valvulopathy,
  -  Unstable psychiatric disease
  -  Unstable cardiovascular disease.

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

Clinical trial: Safety and Efficacy of Xalkori ROS1

Summary: The objective of this surveillance is to collect information about 1) adverse drug reaction not expected from the LPD (unknown adverse drug reaction), 2) the incidence of adverse drug reactions in this surveillance, and 3)factors considered to affect the safety and/or efficacy of this drug.


Eligibility: Inclusion Criteria:
  -  patients with unresectable progressive/recurrent NSCLC who are naive to XALKORI and whose tumor is ROS1 gene positive
  Exclusion Criteria:
  -  Patients with past history of hypersensitivity to any of the ingredients of XALKORI

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

Clinical trial: Huntington's Disease 123

Summary: The primary goal of the program is to derive biomarkers that could be further developed to measure the efficacy of novel pharmacological treatments for HD.


Eligibility: Inclusion Criteria:
  -  Must be capable of giving informed consent
  -  Must be willing to comply with adequate contraceptive measures
  -  Must be considered by the Investigator to be in good heath (excluding disease under study)
  Exclusion Criteria:
  -  Individuals who do not meet inclusion criteria
  -  Known intracranial comorbidities (i.e. stroke, haemorrhage, space-occupying lesions etc.)
  -  The presence or history of other neurological or primary psychiatric disorders secondary to HD
  -  Pregnancy
  -  Breastfeeding
  -  Contraindication to MRI (e.g. presence of metal devices, metal deposited in the body)

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

Clinical trial: Open-Label Extension of CP101 Trials Evaluating Oral Full-Spectrum Microbiota™ (CP101) in Subjects With Recurrence of Clostridium Difficile Infection

Summary: This is an open-label extension of CDI-001 (subsequently referred to as PRISM 3), and is evaluating the safety and efficacy in reducing recurrence of CDI in adults who had a CDI recurrence within 8 weeks of receiving CP101 or placebo in PRISM 3. Subjects who are experiencing recurrent CDI will undergo screening procedures. Subjects who meet eligibility criteria will be eligible to be enrolled in the extension study and administered CP101.
  Approximately 70 subjects will receive CP101. The treatment duration will be 1 day. Subjects will be monitored for recurrence of CDI, safety, and tolerability for 24 weeks following receipt of CP101. The primary efficacy and safety endpoints will be evaluated at 8 weeks post treatment, and all subjects will continue to be followed for an additional 16 weeks for safety and recurrence of CDI.


Eligibility: 1. Ability to provide written informed consent;
  2. Previously enrolled in PRISM 3, had a CDI recurrence within 8 weeks of receiving CP101 or placebo, and have completed their PRISM 3 end of study visit.
  3. An outpatient prior to Treatment
  4. Has received a course of standard-of-care CDI antibiotics for the most recent CDI episode, has had an adequate clinical response, and has completed a washout period.
  Exclusion Criteria:
  1. Pregnant, breast-feeding, or considering becoming pregnant during the study
  2. Prior history, evidence, or diagnosis of inflammatory bowel disease (e.g., Crohn's disease and ulcerative colitis)
  3. Any prior diagnosis of diarrhea-predominant irritable bowel syndrome
  4. Systemic chemotherapy or radiation for the treatment of cancer during the 60 days prior to consent or planned during the 8 weeks following Randomization
  5. Prior fecal transplant for any condition, regardless of route of administration in the last year or plans to undergo during the study
  6. Major intra-abdominal surgery within the past 60 days prior to Screening
  7. Admitted to, or expected to be admitted to an intensive care unit for any medical reason. Note: Residents of long term care facilities are eligible study entry
  8. History of total colectomy/ileostomy or bariatric surgery
  9. Planned hospitalization or invasive surgery during the study
  10. Severe acute illness unrelated to CDI

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

Clinical trial: Effect of Ramadan Fasting on Muslim Recipients After Living Donor Liver Transplantation

Summary: The study aimed to assess the possibility of Ramadan fasting and to start protocol of adapting immunosupression regiment and scheduled follow up for patients wishing to fast after liver transplantation (LT).

Detailed description: Very limited data in the literature about how to apply Ramadan fasting in the post liver transplant setting. The timing of Ramadan is changeable according to the lunar year and according to time of down and sunset in each country. In Egypt, for example, Ramadan fasting this year started 17th of May and finished 14th June with average fasting hours of 15-16 hours The study aimed to assess the possibility of Ramadan fasting and to start protocol of adapting immunosupression regiment and scheduled follow up for patients wishing to fast after LT.This prospective study included 45 recipients who underwent LT at Ain Shams Center for Organ Transplant (ASCOT), Cairo, Egypt.

Eligibility: Inclusion Criteria:
  -  • Recipients completed their first year after LDLT
  -  Normal liver and renal functions at least in the last 3 months before fasting
  -  No reported rejection episodes in the last 6 months before the study
  -  Recipients wishing to fast Ramadan
  -  Informed consent about the study
  Exclusion Criteria:
  -  • First year of LDLT
  -  Recipients transplanted for Budd Chiari syndrome
  -  Recipients with vascular stents (hepatic artery , portal vein or hepatic vein stents) requiring long life anticoagulation
  -  Creatinine clearance <60 ml/min or serum creatinine >1.5 mg/dl at time of initial enrolment in the study.

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

Clinical trial: SK-1403 Long-term Treatment Study; Long-term Study in Patients With Secondary Hyperparathyroidism Receiving Hemodialysis

Summary: To evaluate the safety and efficacy of treatment with SK-1403 for 52 weeks in patients with secondary hyperparathyroidism on maintenance hemodialysis.


Eligibility: Inclusion Criteria:
  -  Serum PTH>240 pg/mL at the screening
  -  Serum corrected Ca≥8.4 mg/dL at the screening
  -  Stable chronic kidney disease patients who undergo hemodialysis or hemodialysis filtration
  Exclusion Criteria:
  -  Primary hyperparathyroidism
  -  Severe liver disease
  -  Severe cardiac disease
  -  History or family history of long QT syndrome
  -  Malignant tumor
  -  Uncontrolled diabetes mellitus
  -  Uncontrolled hypertension
  -  A history of severe drug allergy

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

Clinical trial: Colchicine for Patients With Chagas´ Disease( B1 Stage)

Summary: This study evaluate the addition of colchicine in the treatment of patients with Chagas´disease.
  Forty patients will receive colchicine while twenty patients will receive placebo

Detailed description: Chagas disease is considered one of the main cause of dilated cardiomyopathy in Latin America. The histopathological characteristics of Chagas' disease are the presence of myocarditis, destruction of heart fibers, and severe myocardial fibrosis. Colchicine had a protective effect on myocardium, indicated by decreased interstitial myocardial fibrosis and attenuated myocardial inflammation. It is an inflammatory cause of cardiomyopathy and myocardial fibrosis is the hallmark of this disease. Colchicine is a drug used in inflammatory diseases, and could also act on myocardial remodeling interfering in the synthesis of collagen

Eligibility: Inclusion Criteria:
  -  Clinical and serological diagnosis of Chagas´disease ( Stage B1)
  -  Must be able to swallow tablets
  Exclusion Criteria:
  -  myocardial infarction or coronary artery disease,
  -  diabetes mellitus,
  -  valvular disease,
  -  creatinine clearance <30 ml / kg / min
  -  contraindication to perform cardiac magnetic resonance imaging
  -  use of angiotensin converting enzyme inhibitors, angiotensin II receptor blockers and aldosterone blockers
  -  previous use of benzonidazole

Relevance to patient case: not relevant