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

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: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Cardiac Effects of Rotigotine Transdermal System in Subjects With Advanced-stage Idiopathic Parkinson's Disease

Summary: The purpose of this trial is to assess whether rotigotine has an effect on the electrical activity of the heart. Moxifloxacin infusion is used as positive control to assess assay sensitivity.


Eligibility: Inclusion Criteria:
  -  Male or female at least 18 years of age
  -  Advanced-stage idiopathic Parkinson's disease requiring treatment with levodopa.
  -  Nonchildbearing potential
  Exclusion Criteria:
  -  Atypical Parkinson's syndrome(s).
  -  History of pallidotomy, thalamotomy, deep brain stimulation, or fetal tissue transplant.
  -  Significant tremor or dyskinesias.
  -  Severe dysfunction of the autonomic nervous system.
  -  History of transient ischemic attack or stroke within the last 12 months.
  -  Conduction abnormality or relevant cardiac dysfunction and/or myocardial infarction within last 12 months.
  -  History or current condition of additional risk factors for Torsade de Pointes (eg, heart failure, hypokalemia), or a family history of long QT syndrome and/or of Torsade de Pointes.
  -  No stable sinus rhythm: more than 20 ectopics/h.
  -  Any other clinically relevant ECG abnormality.
  -  History or current condition of epilepsy and/or seizures.
  -  History or current condition of atopic or eczematous dermatitis, psoriasis, or another active skin disease.
  -  History or current condition of symptomatic orthostatic hypotension.
  -  History or current condition of significant skin hypersensitivity to adhesives or other transdermal products or recent unresolved contact dermatitis.
  -  History of glucose 6-phosphate dehydrogenase deficiency.
  -  History of tendonitis or tendon rupture with quinolone antibiotics.
  -  Renal or hepatic dysfunction.
  -  Treatment with dopamine agonists, MAO A inhibitors, reserpine, or alpha-methyldopa
  -  Therapy known to produce a nontrivial prolongation of the QT interval.

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

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: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects

Summary: To assess the effect of ERB-041 after multiple oral doses on cardiac repolarization as assessed by the QTc interval.


Eligibility: Inclusion Criteria:
  -  Healthy as determined by the investigator on the basis of medical history, physical examination, clinical laboratory test results, vital signs, and ECG.
  -  Nonsmoker or smoker of fewer than 10 cigarettes (half a pack) per day as determined by history.
  Exclusion Criteria:
  -  A family history of long QT syndrome and/or cardiac death.
  -  Any significant cardiovascular, hepatic, renal, respiratory, gastrointestinal, endocrine, immunologic, dermatologic, hematological, neurological, or psychiatric disease.

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

Clinical trial: Levodopa-Carbidopa Intestinal Gel Open-Label Study in Advanced Parkinson's Disease

Summary: The primary objective of this study will be to provide further evidence of the long-term safety and tolerability of levodopa-carbidopa intestinal gel (Duodopa®) over 12-months in participants with advanced Parkinson's disease (PD) and severe motor fluctuations.

Detailed description: The study was composed of a screening period followed by 3 sequential on-treatment periods, as follows:
  -  Screening Period (up to 28 days): determination of eligibility and discontinuation of antiparkinsonian disease medications other than levodopa-carbidopa immediate release (LC-oral) prior to nasojejunal (NJ) tube placement.
  -  NJ Test Period (2 to 14 days): first hospitalization period, Baseline assessments, placement of NJ tube, and optimization of levodopa-carbidopa intestinal gel (LCIG) treatment via NJ tube and infusion pump (participant was hospitalized for NJ tube placement but hospitalization was not required for entire duration of LCIG treatment optimization).
  -  PEG-J Period (2 to 14 days): second hospitalization period; placement of PEG-J tube; further optimization of LCIG treatment.
  -  Post PEG-J Long-Term Treatment Period (Day 28 to Day 378): LCIG administration via a permanent PEG-J tube and infusion pump, with dosage adjusted according to clinical condition.

Eligibility: Inclusion Criteria:
  -  Idiopathic Parkinson's disease (PD) according to United Kingdom Parkinson's Disease Society (UKPDS) Brain Bank Criteria
  -  Levodopa-responsive with severe motor fluctuations
  -  Recognizable off and on state (motor fluctuations) confirmed by diary
  Exclusion Criteria:
  -  Diagnosis is unclear or a suspicion of other parkinsonian syndromes exists such as secondary parkinsonism
  -  Undergone surgery for the treatment of PD
  -  Contraindications to levodopa (such as narrow angle glaucoma)

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

Clinical trial: Newcastle Disease Virus (NDV) for Cancer Patients Resistant to Conventional Anti-cancer Modalities

Summary: NDV is a virus tht is harmful in chicken, but harmless in man. There are 2 major sub-strains of NDV, one oncolytic and one non-oncolytic. Oncolytic NDV (MTH-68H) preferentially homes and replicates in cancer cells and therefore, administration of NDV intravenously or preferentially intra-tumor, either by direct injection or by injection into an afferent artery results in direct lysis of tumor cells. NDV activates apoptotic mechanism in cancer cells and thus, results in natural cell death.
  Both oncolytic and non-oncolytic NDV were used clinically in hundreds of patients with different types of cancer worldwide. NDV were proved harmless in man. Clinical studies were done for more than a decade and the efficacy of NDV was documented on pre-clinical animals models as well as in man.
  For a large number of patients with metastatic cancer and chemotherapy resistant hematological malignances, no cure can be provided by conventional anti-cancer modalities, new treatment options are urgently indicated. The goal of the study is to use NDV, in order to provide such treatment for patients in need.


Eligibility: Inclusion Criteria:
  -  Patients with the following disease category will be eligible:
  Patients with metastatic lung cancer, metastatic GI cancer, metastatic urogenital cancer, skin and soft tissue cancer.
  -  Failure to anti-cancer modalties and evidence of progressive disease despite optimal application of all relevant available anti-cancer modalities.
  -  Consenting patients.
  -  The patient should sign a consent form stating that he/she will make sure to avoid any contact with chicken or any other species of birds.
  Exclusion Criteria:
  -  Not fulfilling any of the above criteria.
  -  Moribund patients or patients with life-expectancy <3 months.
  -  Karnofsky performance status <60%.
  -  Pregnant or lactating women.
  -  Active local or systemic infections requiring treatment.
  -  Co-morbidity or life-threatening clinical condtion other than the basic cancer.

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

Clinical trial: A Study of Vinflunine in Patients With Gastric Cancer

Summary: The purpose of this study is to learn if vinflunine can shrink or slow the growth of cancer in patients with advanced or metastatic stomach cancer who have progressed on a prior treatment with a fluoropyrimidine or taxane-containing chemotherapy regimen. The safety of this treatment will also be studied.


Eligibility: Inclusion Criteria:
  -  Patients with locally advanced or metastatic gastric adenocarcinoma, including adenocarcinoma of the gastroesophageal junction who have progressed on a fluoropyrimidine or taxane-containing regimen in any combination in one prior first line treatment.
  -  EGOC performance status of 0,1 or 2
  -  Men and women, 18 years of age and older
  Exclusion Criteria:
  -  Patients having received more than one previous systemic chemotherapy regimen in any setting.
  -  Major abdominal surgery within 2 months or any other surgery under general anesthesia within 4 weeks
  -  Unresolved occlusive or sub-occlusive intestinal disease or any significant chronic intestinal disease (e.g. ulcerative colitis)
  -  Prior radiation to >=30% of the bone marrow and/or radiation within 4 weeks prior to enrollment
  -  Acute or chronic hepatitis
  -  Known HIV infection
  -  A marked baseline prolongation of QT/QTc interval (e.g., repeated demonstration of a QTc interval >450 ms
  -  A history of additional risk factors for Torsade de Pointes (e.g., heart failure hypokalemia, family history of Long QT Syndrome)

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

Clinical trial: ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients

Summary: The purpose of this study is to collect surface electrograms from standard and several non-standard configurations in patients with long QT syndrome, heart failure, cardiac resynchronization therapy or wide QRS during a routine outpatient assessment. The ECGs collected will be used as test signals by the sponsor for the development of a subcutaneous implantable defibrillator

Detailed description: The objective of this study is to record standard ECG signals is each of the 4 patient populations together with signals from 4 non-standard surface positions when these patients attend the outpatient department for follow-up. The non-standard electrode positions mimic the positions of the subcutaneous electrodes of the subcutaneous implantable defibrillator (S-ICD) system in development by Cameron Health.
  The collection of these signals will allow bench testing of the algorithms proposed for the S-ICD system. Additionally, it will allow a comparison of the response of different defibrillators to these same signals to asses how each would treat a particular rhythm.

Eligibility: Inclusion Criteria:
  -  Patients attending the outpatient for routine follow-up for their cardiac disease or to have an implanted device follow-up
  Exclusion Criteria:
  -  Patients unable or unwilling to provide informed consent
  -  Any condition which precludes the subject's ability to comply with the study requirements, including completion of the study

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

Clinical trial: Genetic Predisposition of Coronary Artery Disease -- The COROGENE-Study

Summary: The aim of this study is to identify genetic loci,or gene variations contributing to inflammation and to the development of CHD. We will compare coronary angiogram results to genetic findings within coronary artery disease patients and in patients with normal coronaries.

Detailed description: Coronary artery disease (CAD) is a chronic inflammatory disease, progression of which may be accelerated by immunological mechanisms. Genes involved in regulation of inflammation and protection against infectious agents may affect picture of the disease . Major Histocompatibility Complex (MHC) region carries genes involved in innate and adaptive immunity and inflammation. We have for the first time, identified genetic factors located in HLA region, showing several fold risk for disease predisposition likely forming an important component to explain the high incidence of coronary heart disease in the Finnish population.
  The aim of this study is to rerun our preliminary results, and further identify genetic loci, or gene variations contributing to the development of CHD. The strategy is to collect altogether 5000 patients assigned to coronary angiogram in Helsinki University Central Hospital. We will compare the angiogram results to genetic findings first in patients with normal coronaries, and in patients with different stages of CHD. Secondly we will compare phenotypic changes in inflammation and try to find out if the phenotype differs in different genotypes. Thirdly we will collect patients from hospital discharge registry, and compare mortality and morbidity results in different gene groups.
  Finally, we aim to record echocardiograms of the aortic valves in altogether 3500 consecutive patients undergoing coronary angiography. We try to identify genetic loci and gene variations contributing to the fibrosis and calcification of the aortic valve.
  The results of the study provide a possibility to develop a gene test to recognize patients at risk at its early stage, and needing for preventive medicine.

Eligibility: Inclusion Criteria:
  -  Patient assigned to coronary angiogram
  Exclusion Criteria:
  -  Inability to give informed consent

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

Clinical trial: Study Evaluating the Effects of MOA-728 on Cardiac Repolarization in Healthy Subjects

Summary: The purpose of the study is to assess the effects of MOA-728 on cardiac repolarization in healthy subjects.


Eligibility: Inclusion Criteria:
  -  Generally healthy subjects men or women aged 18-50
  Exclusion Criteria:
  -  Any significant clinically important disease
  -  Family history of long QT syndrome and/or sudden cardiac death
  -  Allergy to moxifloxacin or the quinolone class of antibiotics

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

Clinical trial: Safety of EVG+RTV Administered With Other Antiretroviral Agents for the Treatment of HIV-1 Infection

Summary: The main objective of this study is to observe the long-term safety of elvitegravir (EVG) boosted with ritonavir (RTV) in combination with other antiretroviral (ARV) agents in participants who have completed a prior EVG+RTV treatment study.


Eligibility: Inclusion Criteria:
  -  Completion of a prior EVG+RTV treatment study without treatment-limiting toxicity.
  -  Males and females of childbearing potential must agree to utilize effective contraception methods.
  -  Ability to understand and sign a written informed consent form.
  Exclusion Criteria:
  -  Females who are pregnant or breastfeeding.
  -  Participation in any other clinical trial without prior approval from the Sponsor.
  -  Any other clinical condition or prior therapy that, in the opinion of the investigator, would make the subject unsuitable for the study.
  -  Subjects receiving ongoing therapy with contraindicated drugs.

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 Corrected QT Interval From Clinical Studies Conducted With Bevacizumab

Summary: This is a supplemental study designed to evaluate the effect of bevacizumab on QTc interval in cancer patients. Patients who have consented to participate in selected randomized controlled bevacizumab clinical trials will be invited to participate in this study.


Eligibility: Inclusion Criteria:
  -  Signed Informed Consent Form
  -  Enrollment in one of a list of certain randomized, controlled bevacizumab trials
  Exclusion Criteria:
  -  Implantable pacemaker or automatic implantable cardioverter defibrillator (AICD)
  -  Congenital long QT syndrome
  -  Family history of long QT syndrome
  -  Clinically significant bradycardia (defined as < 50 beats/minute)

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

Clinical trial: Treatment and Control of Atopic Dermatitis With 0.1% Tacrolimus Ointment

Summary: Long-term tacrolimus ointment based regimen comprising of up to 6 weeks of initial twice daily treatment and subsequent twice weekly prophylactic application can effectively treat active lesions of atopic dermatitis and prevent delay & reduce flares


Eligibility: Inclusion Criteria:
  -  Male or female patient of any ethnic group
  -  Patient was at least 16 years old and suffered from mild to severe atopic dermatitis (Rajka/Langeland score of at least 3)
  Exclusion Criteria:
  -  Patient had a genetic epidermal barrier defect such as Netherton's syndrome or generalised erythroderma
  -  Patient had a clinically significant skin infection on the affected (and to be treated) area

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

Clinical trial: The Long QT Syndrome in Pregnancy

Summary: Long QT Syndrome (LQTS) is a disease of young adults and can affect women of child bearing age. Suffers of LQTS are at risk of ventricular dysrhythmias including torsades de pointes and ventricular fibrillation.
  Pregnancy increases the chance that any mother may have an abnormal heart rhythm or arrhythmia. This chance is higher with the LQTS. There are only a few reported cases of women with the LQTS having a baby in the medical literature. This can make it difficult for the doctor caring for a pregnant woman with the long QT syndrome - especially should they need an anesthetic.
  We would like to study as many women who have had a baby who have the long QT syndrome to give us a better idea of whether there are any arrhythmias occurring at the time of delivery.

Detailed description: This will be a retrospective analysis of all LQTS women managed at St. Paul's or BC Women's who have been pregnant in the last 5 years. These two hospitals both have a provincial role in the care of pregnant women, BC Women's as the designated provincial tertiary maternity care referral centre, and St. Paul's through its provincial PATCH clinic. Using the data from these two centres should capture the majority of LQTS cases in parturients in the province. We will search for these women from the Department of Anesthesia BC Women's consult database, the St. Paul's Cardiac Obstetrical Care database, and BC Women's Health Records using International Classification of Diseases - 10 coding for long QT. Then, after obtaining patient consent, review the charts collecting data using the data entry form. The cases will then be compared and any conclusions into the different anesthetic managements made.

Eligibility: Inclusion Criteria:
  -  Pregnant women with diagnoses of Long QT Syndrome, Romano Ward and Jervell - Lange Nielson Syndrome who delivered at BC Women's Hospital or St Paul's Hospital.
  Exclusion Criteria:
  -  Non consent to participation in the study
  -  Age less than 19
  -  Non English speaker

Relevance to patient case: not relevant