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

Clinical trial: Avoid DeliVering TherApies for Non-sustained Arrhythmias in ICD PatiEnts III

Summary: To demonstrate a reduction in the number of ventricular therapies (ATP and Shocks) delivered for treating spontaneous arrhythmia episodes with a fast cycle length (CL≤ 320ms) as a consequence of self-termination and better arrhythmia discrimination due to a greater number of R-R intervals necessary to detect ventricular events.

Detailed description: Primary Objective:
  The primary objective is to demonstrate a 20% reduction of ventricular therapies (ATP and Shocks) delivered for treating spontaneous arrhythmia episodes with a fast cycle length (CL ≤ 320 ms) by choosing a number of 30 out of 40 intervals to detect (NID) compared to a NID of 18 out of 24 in subjects with either Class I or IIA indication for ICD implantation, regardless of cardiac resynchronization capabilities.
  Secondary Objectives:
  1. Evaluate the percent reduction in the number of shocks delivered per subject for treating spontaneous episodes with a fast cycle length (CL ≤ 320 ms) and for spontaneous ventricular episodes.
  2. Evaluate the efficacy of ATP in successfully treating spontaneous ventricular episodes (CL: 200ms-320ms) for subjects in primary and secondary prevention in both arms of the study.
  3. Evaluate acceleration rate or degeneration into VF of spontaneous episodes (CL of 200ms-320ms) due to ATP therapy in the two study arms.
  4. Compare the likelihood of syncopal events associated with spontaneous episodes with a fast cycle length (CL ≤ 320 ms).
  5. Describe the economic impact and the quality of life consequences.

Eligibility: Inclusion Criteria:
  -  Either ICD or CRT+ICD indications (Class I-IIA) according to the current AHA / ACC / ESC guidelines.
  -  Previous implant of a Medtronic device including "ATP During Charging" feature for 15 days at the maximum.
  Exclusion Criteria:
  -  ICD replacements and upgrading.
  -  Brugada Syndrome, Long QT and HCM patients
  -  Ventricular tachyarrhythmia associated with reversible cause.
  -  Other electrical implantable devices (Neurostimulators, etc.).
  -  Subject's life expectancy less than 1 year.
  -  Subject on heart transplant list which is expected in less than 1 year.
  -  Subject is <18 years of age, or the subject is under a minimum age that is required as defined by local law
  -  Women who are pregnant or women of childbearing potential who are not on a reliable form of birth control.
  -  Unwillingness or inability to provide written informed consent.
  -  Enrolment in, or intention to participate in, another clinical trial.
  -  Inaccessibility to come to the study center for the follow-up visits.
  -  Mechanical tricuspid valve.

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

Clinical trial: Explorative Study of AZD1305 in Atrial Fibrillation Patients

Summary: Explorative study in Atrial Fibrillation patients to assess Safety and Pharmacokinetics at initiation of treatment and at steady state


Eligibility: Inclusion Criteria:
  -  Documented Atrial Fibrillation but in stable SR for at least 2 h and a maximum of 28 days.
  -  Sinus rhythm at randomisation
  Exclusion Criteria:
  -  Haemodynamically unstable condition as judged by the Investigator, systolic BP <100 mmHg or >180 mmHg, or diastolic BP >105 mmHg at randomisation
  -  Personal or family history of Torsades de Pointes (TdP), any other polymorphic ventricular tachycardia (PVT), sustained ventricular tachycardia, long QT syndrome and/or Brugada syndrome
  -  Sinus bradycardia (<50 beats per minute (bpm)) at randomisation
  -  QTc (Fridericia, QTcF ) >450 ms measured in sinus rhythm at randomisation,
  -  Serum potassium below 3.8 or above 5.0 mmol/L or plasma potassium below 3.6 or above 5.0 mmol/L
  -  QRS duration >120 ms at randomisation
  -  Use of any antiarrhythmic drug class I and/or III, digitalis glycoside, QT prolonging drug and/or drug that inhibits CYP3A4, as well as St John's Worth

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

Clinical trial: Comparison of Crinone 8% Intravaginal Gel and IM Progesterone Supplementation for In Vitro Fertilization (IVF)

Summary: The goal of this research study is to compare the pregnancy rates for two different types of progesterone supplementation after in-vitro fertilization (IVF).

Detailed description: The aim is to test the hypothesis that the pregnancy rates of women under age 40 undergoing an in vitro fertilization and embryo transfer (IVF-ET) cycle are not different with respect to the administration of progesterone (Crinone 8%, intravaginal gel versus intramuscular progesterone).

Eligibility: Inclusion Criteria:
  -  Women of reproductive age (21-39) with infertility who are appropriate candidates for IVF/ET and have an FSH < 15 mIU/ml
  -  Women 21 to 39 years of age who have been assigned to stimulation of 2 to 8 amps of Luteal Lupron/FSH or Luteal Lupron FSH/HMG.
  Exclusion Criteria:
  -  Women who have had more than 3 previous IVF/ET cycles

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

Clinical trial: Fluid Balance, Hormones and Urine Proteomics in Nephrotic Syndrome in Childhood

Summary: The purpose of this study is to describe the hormones controlling fluid balance in pediatric patients with nephrotic syndrome. Further more, an analysis of the urinary and plasma proteins will be done using proteomics. Different composition of proteins in the urine or plasma might indicate if the patients will respond to treatment or not.

Detailed description: Nephrotic syndrome represents the association of proteinuria, hypoalbuminemia, oedema and hyperlipidemia. The pathogenesis of the oedemas remains controversial. The "underfill" theory is the traditional explanation where massive proteinuria leads to low plasma albumine and a subsequent decrease in intravascular osmotic pressure leading to edema formations. Because most patients are normotensive and have normal intravascular pressure the "overfill" theory has been proposed suggesting a primary defect in renal sodium handling being responsible for oedema formation.
  Ten percent of the children with nephrotic syndrome do not respond to standard steroid treatment and a significant proportion of these patients progress towards end-stage renal failure. At initial presentation it cannot be said if a patient will respond to treatment or not.
  The purposes of the sudy:
  1. To describe changes in the hormones, Aldosterone, Atrial Natriuretic Peptide (ANP), Arginin Vasopressin (AVP), Renin and Angiotensin II in patients with idiopathic nephrotic syndrome and to analyse to what extend the change in these hormones reflected a "underfill" or "overfill" situation.
  2. To describe changes in the urine concentration of the water channel AQP II and the sodium channel ENaC during the course of nephrotic syndrome.
  3. To test the hypothesis that urine and plasma proteomics from patients with steroid resistant nephrotic syndrome differs from patients with steroid sensitive nephrotic syndrome.
  50 pediatric patients with nephrotic syndrome will be included after informed consent from both parents.
  At day 1, 2, 3, 30 and 120 blood samples for hormones will be taken together with creatinin, albumine, Na+, K+, Hgb. An Echocardiography will be performed at day 1 and day 30 to determine v. cava inferior index.
  At day 1,30 and 120 urine and plasma will be collected for proteomics and measurement of AQP II and ENaC concentrations.
  Further more a clinical examination will be performed at day 1, 2, 3, 30 and 120 and weight, blood pressure and response to treatment will be recorded.

Eligibility: Inclusion Criteria:
  -  Idiopathic Nephrotic syndrome, age below 15 years
  Exclusion Criteria:
  -  Systemic disease e.g. Henoch-Schonleins purpura, Lupus erythematosus, diabetes mellitus
  -  Age over 15 years
  -  Treatment with diuretics prior to baseline blood samples

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

Clinical trial: Pregnancy and Neonatal Follow-up of Ongoing Pregnancies Established in Clinical Trial P05690 (Care Program) (P05710)

Summary: The objective of this follow-up study is to evaluate whether corifollitropin alfa (Org 36286) treatment for the induction of multifollicular growth in women undergoing controlled ovarian stimulation (COS) prior to in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) is safe for pregnant participants and their offspring.

Detailed description: This is a follow-up protocol to prospectively monitor pregnancy, delivery, and neonatal outcome of women who were treated with corifollitropin alfa or recFSH and became pregnant during the base study P05690 (NCT00702845). For this trial no study specific assessments are required, but information as obtained in standard practice will be used.

Eligibility: Inclusion Criteria:
  -  Participants who participated in base study P05690 (NCT00702845) and received at least one dose of either corifollitropin alfa (Org 36286) or recFSH in base study P05690;
  -  Ongoing pregnancy confirmed by ultrasound at least 10 weeks after embryo transfer in base study P05690;
  -  Able and willing to give written informed consent.
  Exclusion Criteria:
  -  None

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

Clinical trial: Sperm Capacitation Assay as a Tool to Predict Sperm Potential to Fertilize in IVF Treatment

Summary: Our aim is to evaluate the potential of a new laboratory method that measure sperm capacitation to predict fertilization of oocytes in patients that undergo IVF treatments

Detailed description: Capacitation is a physiologic process in which the sperm acquire the potential to fertilize oocytes. Capacitation can be measured, but the available technics are expensive, inaccurate and complex. A new method to evaluate sperm capacitation was developed in Bar Ilan University, Israel. We intend to measure the capacitation of semen that is used for fertilizing human oocytes in patients treated at the IVF unit at Assaf Harofeh Medical Center.By this, to evaluate the potential of the new method to predict human oocyte fertilization.If the method will be found valuable, it will enable to develop new drugs/methods that may improve sperm capacitation and by this to improve oocyte fertilization leading to more embryos, pregnancies and deliveries.

Eligibility: Inclusion Criteria:
  -  Patients requiring IVF within the "routine" work of an IVF Unit
  -  normo-responding woman
  -  non ICSI cycles
  Exclusion Criteria:
  -  Patients undergoing ICSI only cycle
  -  Low responders-less than 8 oocytes
  -  Male patients with low semen volume

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

Clinical trial: Short Versus Long Protocol for IVF and IVF+ICSI

Summary: Purpose: Comparing a GnRH agonist and an antagonist protocol for IVF/ICSI with regard to
  1. frequency of ovarian hyperstimulation syndrome (OHSS) (1. outcome measure)
  2. quality of life (2. outcome measure)
  3. live birth rate (2. outcome measure)
  4. gene expression profiles of granulosa and cumulus cells, and concentrations of estradiol and vascular endothelial growth factor in follicular fluid(not only compared between GnRH agonist and antagonist protocol, but also between patients with OHSS and no OHSS and patients becoming pregnant and not becoming pregnant (2. outcome measure), and
  5. number of oocytes removed per treatment, number of embryo transfers per treatment and number of spontaneous abortions per treatment (these three parameters are tertiary outcome measures).
  In addition to the above mentioned efficacy outcome measures the safety outcome measure "frequency of known side-effects" will be compared between the two protocols.

Detailed description: Patients: 1100 patients are randomized prospectively to either treatment. Stratification: =<36 y/>36 y, IVF/ICSI, and treatment centre.
  Methods: OHSS is quantified by consecutive measurements of weight, abdominal diameter, ultrasound measurements of ascites and ovarian volume, paraclinical parameters, and by a systematic patient questionnaire. Furthermore it is registered if the patients have been hospitalized and/or have had ascites drainage performed due to OHSS. Data from the first 100 patients are used together with Golans OHSS-classification, to make a more precise definition of OHSS. This definition is applied prospectively on data from the remaining patients.
  Quality of life is gauged by a questionnaire. Child birth rate is ascertained by a pregnancy response questionnaire and by obtaining data from the Danish National Birth Registry.
  Statistics: The study is designed to be able to show a 50% reduction of OHSS comparing short to long protocol.

Eligibility: Inclusion Criteria:
  -  All patients referred for infertility receiving their first IVF or IVF+ICSI treatment
  Exclusion Criteria:
  -  Previous IVF or IVF+ICSI-treatment
  -  Uterine anomalies
  -  It is necessary to perform direct sperm aspiration from husband's/partner's testicles
  -  Allergy to one of the intervention products
  -  Patient is 40 years or above

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

Clinical trial: The Use of Dual Chamber ICD With Special Programmed Features to Lower the Risk of Inappropriate Shock

Summary: The RAPTURE Study will determine whether dual chamber defibrillators with atrial prevention and termination therapies, minimized ventricular pacing, and remote monitoring will reduce the rate of inappropriate shocks and improve quality of life compared to optimally programmed back-up pacing only single chamber ICDs when used for primary prevention of sudden cardiac death

Detailed description: While implantable cardioverter-defibrillator (ICD) therapy has become the gold standard for sudden death prevention in high risk individuals, reduction of device associated morbidity remains a significant problem. Rapidly conducted atrial tachyarrhythmias inappropriately detected as ventricular tachycardia (VT) are the most common cause for inappropriate shocks in ICD recipients, affecting 10 to 40% of patients. Large multicenter trials have shown modest benefits of atrial pacing in preventing atrial fibrillation, however right ventricular (RV) pacing was not limited, thus any favorable effects associated with atrial prevention and treatment may have been offset by the RV pacing. New algorithms to prevent RV pacing are now made available in our current devices. The choice of dual chamber versus single chamber ICD for primary prevention warrants re-assessment of atrial prevention and termination therapies, without the potentially adverse effects of RV pacing.
  This Multi Center Pilot study will enroll 100 eligible subjects, 50 to single chamber and 50 to dual chamber ICDs. Patients will be followed for one year.

Eligibility: Inclusion Criteria:
  -  Candidates for ICD for primary prevention according to American Heart Association/American College of Cardiology (AHA/ACC) guidelines who have a clinical indication for ICD implantation for ventricular arrhythmia or sudden death prevention.
  -  The ability to understand the scope of the study, provide written informed consent, and a willingness to complete all study visits and associated procedures.
  Exclusion Criteria:
  -  Pregnant women
  -  Age <18 years old
  -  Inability to provide consent
  -  On a heart transplant waiting list
  -  Life expectancy <1 year
  -  Indication for pacing
  -  Atrioventricular (AV) node ablation
  -  Permanent atrial fibrillation or atrial flutter
  -  Indication for cardiac resynchronization
  -  Preexisting, separate pacemaker pulse generator that won't be explanted
  -  Intra-aortic balloon pump or other device
  -  Inotropic drug (not digitalis) necessary for hemodynamic support
  -  Chronic serious bacterial infection
  -  Inability to receive pectoral non-thoracotomy lead ICD
  -  Inability to program device according to protocol
  -  History of Out of Hospital Cardiac Arrest (OHCA) or sustained Ventricular Tachycardia as an indication for ICD (secondary prevention indication)

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

Clinical trial: Empiric Quinidine for Asymptomatic Brugada Syndrome

Summary: The purpose of this study is to determine if quinidine therapy (not guided by the results of electrophysiologic studies) will reduce the long-term risk of arrhythmic events in asymptomatic Brugada Syndrome.


Eligibility: Inclusion Criteria:
  1. Patients with Asymptomatic Brugada syndrome.
  -  "Brugada syndrome" is defined as the presence of a Type-I Brugada electrocardiogram [coved ST-segment elevation ≥2 mm (0.2 mV) in V1, V2 or V3] either spontaneously (at rest, in the baseline state or during a febrile episode) or following a standard drug-challenge test (with flecainide, ajmaline, procainamide, or pilsicainide) and recorded either with standard electrode position or with the precordial electrodes placed on the second or third intercostal space. Negative T waves in the precordial leads are not required to define a Type I electrocardiogram.
  -  "Asymptomatic patients" will be defined as patients without a history of cardiac arrest, a history of "arrhythmic syncope" or a history of "suspected arrhythmic syncope." Arrhythmic syncope" is a syncope occurring during documented ventricular tachyarrhythmias. "Suspected arrhythmic syncope" is syncope without documented arrhythmias believed to be caused by a tachyarrhythmia based on clinical judgment. In other words, patients with typical vagal syncope will be counted as "asymptomatic" and will be accepted to the registry whereas patients with a clinical history suggesting "syncope other than vagal syncope" will not be accepted to this Registry.
  -  Genetic confirmation (identification of a disease-causing mutation) will not be required for establishing the diagnosis of Brugada syndrome but will be recorded when present.
  2. Patients with Questionable Brugada Syndrome who are asymptomatic.
  -  Patients with "Questionable Brugada Syndrome" are defined as patients with type II or III electrocardiogram who have an inconclusive result during a drug challenge with a sodium channel blocker. "Asymptomatic" is defined as above.
  -  Genetic testing will not be required. However, patients with "Questionable Brugada" based on electrocardiographic criteria will be defined as "Patients with Brugada Syndrome" if a disease-causing mutation is identified.
  Exclusion Criteria:
  1. A history of cardiac arrest, "arrhythmic syncope" or "suspected arrhythmic syncope" (as defined above).
  2. Evidence of organic heart disease. The evaluation considered mandatory for excluding heart disease will consist of electrocardiogram, echocardiogram and exercise stress testing. Additional tests will be performed only if clinically indicated.
  3. Evidence of non-cardiac disease likely to affect 5-year survival.

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

Clinical trial: Shockless Implant Evaluation

Summary: This trial will assess the safety of defibrillator testing and the influence of defibrillation testing on the efficacy of clinical shocks.
  The trial will test the hypothesis that implantable cardioverter defibrillator (ICD) implantation without defibrillation testing (DT) is non-inferior to implantation with testing against the composite endpoint of ineffective first appropriate clinical shock or arrhythmic death.
  It will also test the hypothesis, that defibrillation testing increases the peri-operative (30 days) complication rate of ICD implantation.


Eligibility: Inclusion Criteria:
  -  Age ≥ 18 years
  -  Patients undergoing initial implant of an ICD or CRT-D device (can be upgrade from a pacemaker)
  Exclusion Criteria:
  -  Patients, who in the opinion of their treating physicians are ineligible for either strategy (DT or no DT)
  -  Patients on active transplant list
  -  Patients unwilling to provide informed consent
  -  Patients not available for follow-up
  -  Pregnancy or women of child bearing potential not following an effective method of contraception
  -  Anticipated right sided implantation of the ICD generator

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

Clinical trial: AVAI: Atrial Ventricular Arrythmia Incidence

Summary: The purpose of this observational study is to collect data regarding the population of patients implanted with St. Jude Medical ICD.

Detailed description: The purpose of this observational study is to collect data regarding the population of patients implanted with a St. Jude Medical ICD. Data regarding Slow Ventricular Tachycardia Episodes, Atrial Fibrillation Episodes and the devices programmed parameters will be collected during two years after the implant.

Eligibility: Inclusion Criteria:
  -  Patient has been implanted with a St Jude Medical ICD, mono,bicameral or cardiac resynchronization therapy - Defibrillator (CRT-D) according the American College of Cardiology (ACC), American Heart Association (AHA), National Standards for Physical Education (NASPE) guidelines. (min. 24 hours - max. 2 months)
  -  Patient has signed the study specific Informed consent document.
  -  Patient is older than 18 years of age
  Exclusion Criteria:
  -  Patient has a permanent Atrial Fibrillation
  -  Patient has a documented slow ventricular Tachycardia Episodes previous to the ICD implant.
  -  Patient not programed with a ventricular Tachycardia (VT) zone upper than 120 bpm.
  -  Patient requires cardiac resynchronization
  -  Patient has Brugada Syndrome
  -  Patient has long QT Syndrome
  -  Patient has a device replacement;
  -  Patient is pregnant or nursing
  -  Patient is unable to attend the follow-up visits

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

Clinical trial: Parkinson's Disease Genetics Database

Summary: The goal of the study is to develop and organize an effort to identify genes that determine an individual's risk for developing Parkinson's disease (PD).
  1. To ascertain, study and establish a repository of DNA samples that will allow for the identification of known and yet-to-be-identified genetic markers associated with the development of PD.
  2. To create a database with clinical, genetic (HLA, genome screen) and medical history information that will facilitate the search for PD susceptibility genes.
  3. To provide a centralized DNA repository to allow for targeted studies of genetic factors contributing to the onset, heterogeneity and progression of PD.
  4. To evaluate opportunities to extend the results of research to develop methods of risk prediction, prevention and therapy for PD.


Eligibility: Inclusion Criteria:
  -  Subjects must have a diagnosis of Parkinson's Disease as determined by standard neurological criteria.
  -  Patients ≥18 years of age who are able to provide informed consent
  -  Patients ≥ 18 who are decisionally impaired for whom informed consent can be obtained by a legally authorized representative.
  Exclusion Criteria:
  -  Patients without a diagnosis of Parkinson's Disease.

Relevance to patient case: not relevant