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

Clinical trial: Implantable Cardioverter Defibrillator Versus Optimal Medical Therapy In Patients With Variant Angina Manifesting as Aborted Sudden Cardiac Death

Summary: The purpose of this study is to determine whether ICD(Implantable Cardioverter Defibrillator) implantation on the top of optimal medical therapy in patients with variant angina manifesting as aborted sudden cardiac death reduces the incidence of the death from any cause compared with optimal medical therapy alone.


Eligibility: Inclusion Criteria:
  -  Age 18 years or older
  -  Patients experienced successfully resuscitated cardiac arrest due to documented ventricular fibrillation or sustained rapid ventricular tachycardia
  -  Diagnosed as variant angina, defined by spontaneous coronary spasm with ST elevation (≥0.1mV) in the coronary angiogram and/or documented coronary spasm on ergonovine provocation coronary angiography
  Exclusion Criteria:
  -  Significant (>50%) coronary artery stenosis on coronary angiography
  -  Organic heart disease known to be associated with sudden cardiac arrest.
  -  Heart failure with reduced ejection fraction (Left Ventricular Ejection Fraction < 35%)
  -  Presence of LV akinesia or aneurysm
  -  Hypertrophic cardiomyopathy
  -  Arrhythmogenic right ventricular dysplasia
  -  Chronic Heart Failure New York Heart Association functional class III or IV
  -  prior history of atrial or ventricular arrhythmia requiring class I or III antiarrhythmic drugs (flecainide, propafenone, amiodarone, sotalol and dronedarone)
  -  Prior catheter ablation for ventricular arrhythmia
  -  Primary cardiac electrical diseases (long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia)
  -  Prior pacemaker or Implantable Cardioverter Defibrillator
  -  2nd or 3rd degree AV block not related to coronary ischemia, requiring permanent pacemaker
  -  Patients with poor neurologic outcome (defined as cerebral performance category scale ≥3)
  -  Life expectancy <2 years
  -  Psychiatric illnesses that may be aggravated by device implantation or that may preclude systematic follow-up

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

Clinical trial: Identification of Genetic Markers Modulating Rhythmic Risk Among Patients With Severe Cardiomyopathy

Summary: The aim of this project is to identify common genetic polymorphisms associated with the occurrence of rhythmic events in patients with severe cardiomyopathy.


Eligibility: Inclusion Criteria:
  -  Patients implanted for primary prevention, an implantable cardioverter defibrillator (ICD) single or double room, for severe cardiomyopathy (EF <35%)
  -  Patients with ischemic cardiomyopathy or idiopathic dilated cardiomyopathy.- "Appropriate treatment" group: patients who had a rhythmic event (before or after inclusion) appropriately treated either by administering an electric shock or by antiarrhythmic stimulation
  -  Group "no event" patients who have never received treatment or electrical antiarrhythmic stimulation and with a minimum follow-up of three years before inclusion and did not receive proper treatment during the follow up period of the study
  Exclusion Criteria:
  -  Patients implanted with an ICD for primary prevention in the context of a family hereditary disease (long QT syndrome, Brugada syndrome, hypertrophic cardiomyopathy, ventricular tachycardia catecholergic right ventricular dysplasia ...).
  -  Patients with left ventricular function greater than 35%.
  -  Patients implanted with a defibrillator function resynchronization.
  -  Patients minors, adults under guardianship and protected persons are eligible under this project.

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

Clinical trial: Avoid Transvenous Leads in Appropriate Subjects

Summary: The purpose of the study is to compare standard, single chamber transvenous ICD to sub-cutaneous ICD in occurrence of perioperative and long term device related complications and failed appropriate clinical shocks and arrhythmic death.


Eligibility: Inclusion Criteria: patient must satisfy any ONE of the following two criteria:
  1. Patient is ≥ 18 - 60 years old AND has a standard indication for ICD; OR
  2. Patient is ≥ 18 years old AND has any one of the following present:
  -  An inherited arrhythmia syndrome (i.e. Long QT, Brugada, ARVC, hypertrophic or dilated cardiomyopathy, early repolarization syndrome, idiopathic ventricular fibrillation, etc.)
  -  Prior pacemaker or ICD removal for infection
  -  Need for hemodialysis
  -  Prior heart valve surgery (repair or replacement)
  -  Chronic obstructive pulmonary disease (with FEV1 < 1.5 L)
  Exclusion Criteria:
  -  Mechanical tricuspid valve
  -  Fontan repair
  -  Presence of an intra-cardiac shunt
  -  Known lack of upper extremity venous access
  -  Need for cardiac pacing for bradycardia indication
  -  PR interval of > 240 msec
  -  Patients with permanent pacemaker
  -  Clinical indication for biventricular pacing
  -  Patients unwilling to provide informed consent or comply with follow-up
  -  Pregnant at time of enrollment and implant
  -  Patients who currently have a ventricular assist device (i.e. LVAD)

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

Clinical trial: Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms

Summary: Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease.

Detailed description: Atrioventricular blocks are a heterogenous group of diseases involving children with congenital atrioventricular block (CAB) and more frequently elderly patients affected by progressive Cardiac Conduction Disease (PCCD).
  The aim of the study is to uncover the genetic model, likely more complex than previously appreciated, and characterize the gene expression remodelling leading to high degree of conduction defect.
  The recent technological developments in genomics coupled to the availability of large and highly characterized biobanks of patients have now set the stage:
  1. To identify rare genetic variants/new genes contributing to CAB and PCCD by exome sequencing on familial form suspected to impact strongly the phenotype
  2. To identify common genetic variants modulating the risk of developing (severe) PCCD by GWAS
  3. To estimate the prevalence and relevance of genes uncovered by TASK#1, #2 in large patient sets (PCCD and CAB) by NGS.

Eligibility: Congenital atrioventricular block inclusion criteria:
  -  Patients with idiopathic congenital atrioventricular block diagnosed before the age of 15 years.
  -  Non-immune congenital atrioventricular block documented by a maternal serology (negative for anti-nuclear antibodies or anti Ro-SSA antibodies and anti La-SSB antibodies)
  -  Written consent to participate to the study and written consent of both parents.
  -  Parents of children with idiopathic congenital atrioventricular block.
  Congenital atrioventricular block exclusion criteria
  -  Positive maternal serology
  -  Patients or parents who are unable to sign or who refuse to sign an informed consent
  Progressive Cardiac Conduction Disease inclusion criteria
  -  Patients with isolated cardiac conduction disorder with a normal morphology of the heart confirmed by echocardiography.
  -  Relatives of patients with isolated cardiac conduction disorder
  -  Written consent to participate to the study
  Progressive Cardiac Conduction Disease exclusion criteria
  -  Patients with cardiac conduction disorder associated with a structural cardiopathy or due to an identified cause
  -  Patients who are unable to sign or who refuse to sign an informed consent

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

Clinical trial: Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome

Summary: This study addresses the changes in the axonal excitability parameters. It will compare these changes in patients with early infantile epileptic encephalopathy with HCN1 channel mutation and in control patients, with and without epilepsy.


Eligibility: Inclusion Criteria:
  -  early infantile epileptic encephalopathy with HCN1 channel mutation
  -  control patients with no neurologic pathology (age, gender and body temperature matched)
  -  epileptic patients (age, gender and body temperature matched)
  Exclusion Criteria:
  -  pregnant or breast feeding patient

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

Clinical trial: The Response To Ajmaline Provocation in Healthy Subjects

Summary: Standard, high lead and sodium channel provoked electrocardiograms of a healthy volunteers will be performed to observe the various ECG changes. Participants will the undergo detailed imaging with cardiac magnetic resonance imaging and deep genotyping to identify structural or genetic variants which might dictate the electrocardiographic patterns at rest and with sodium channel provocation.

Detailed description: The investigators will recruit healthy subjects without a history of cardiac symptoms or a family history of sudden death or premature arrhythmogenic cardiac disease. Participants will undergo electrocardiographic phenotype assessment with standard and high lead electrocardiogram and sodium channel provocation. Detailed cardiac structural examination will be performed with cardiac magnetic resonance imaging to look for any variation in mainly right ventricular outflow tract structure and myocardial architecture. Participants will also undergo targeted genomic sequencing to look for variations in genes encoding for cardiac sodium channel.

Eligibility: Inclusion Criteria:
  -  Asymptomatic healthy Volunteers
  Exclusion Criteria:
  -  • Any prior cardiovascular illness
  -  Previous cardiac symptoms.
  -  History of unexplained syncope
  -  Any family history of proven sudden cardiac death or unexplained sudden death either in adulthood or infancy.
  -  Those unable to provide a two generation family history
  -  Abnormal resting ECG
  -  Any contraindications to cardiac magnetic resonance imaging
  -  Pregnant or breastfeeding women
  -  Intercurrent use of any medication known to be contraindicated in Brugada Syndrome

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

Clinical trial: Expanded Access to Entrectinib for Cancers With NTRK1/2/3, ROS1, or ALK Gene Fusions

Summary: Expanded access to entrectinib will be given to patients with cancers harboring NTRK1/2/3, ROS1, or ALK gene fusions who do not qualify for participation in, or who are otherwise unable to access, an ongoing clinical trial for entrectinib.


Eligibility: Inclusion Criteria:
  -  Diagnosis of advanced cancer with an NTRK1, NTRK2, NTRK3, ROS1, or ALK gene fusion
  -  Unable to participate in an ongoing entrectinib (RXDX-101) clinical trial
  -  Willing and able to provide written, signed informed consent
  -  Medically suitable for treatment with entrectinib (RXDX-101)
  Exclusion Criteria:
  -  Currently enrolled in an ongoing clinical study with any other investigational agent

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

Clinical trial: Embryo Aneuploidies and Morphokinetics in Ovarian Stimulated and Non Stimulated IVF Cycles

Summary: The purpose of this study is to compare the number of euploid embryos obtained per metaphase II oocyte in unstimulated (modified natural cycles) and stimulated IVF cycles.

Detailed description: Effects of ovarian stimulation on human embryo quality is still a subject of study. When natural and stimulated cycles have been compared, no differences have been observed in terms of embryo cleavage capacity, oocyte and embryo aneuploidy rate or incidence of aneuploidy in aborted foetuses. When mild and conventional doses of gonadotropins have been compared, a higher proportion of good morphological quality embryos are observed in the former. On the contrary, we showed that ovarian stimulation does not increase significantly the embryo aneuploidy rate in IVF derived human embryos when unstimulated and stimulated cycles were compared in oocyte donors. In this study, we want to compare the embryo aneuploidy rate between unstimulated and stimulated cycles in infertile patients, subjected to both IVF cycles with blastocyst biopsy and NGS-PGS. A comparison of the morphokinetics will also be performed.

Eligibility: Inclusion Criteria:
  -  Women
  -  30-38 years old (inclusive)
  -  with regular menstrual cycles (25-35 days)
  -  AntiMülleriana Hormone >5 pmol/L.
  -  Undergoing IVF treatment
  Exclusion Criteria:
  -  BMI >30 kg/m2
  -  repeated miscarriages
  -  implantation failure
  -  uterine or adnexal pathology
  -  Unable to be treated with gonadotrophins for the ovarian hyperstimulation
  -  history of low response to ovarian hyperstimulation
  -  participation in another study with PGS for monogenic pathology
  -  Cryptozoospermia in male partner

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

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: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: G-CSF Administration in IVF in a Preferable Preceptive Endometrium Score

Summary: This is a controlled preminary trial intended to increase the implantation rate of IVF cycles, by using more than one known procedure, endometrial scratching, evaluating the status of the adhesive factors as αVβ3 integrin, L-selectin ligand MECA-79, E-cadherin and ICAM-1, as a determinant for intervention by G-CSF, according to a score that can be done on a small sample obtained during scratching, then give G-CSF for the scores less than 4 intrauterine and subcutaneously.

Detailed description: Placebo: CONTROL patients treated with PLACEBO (saline solution) from the day of embryo transfer through the day of beta hCG test Drug& scratching CONTROL saline infusion every day from the day of embryo transfer through the day of beta HCG test Other Name: SALINE INFUSION Experimental: G-CSF group patients treated with G-CSF if the biopsy adhesive score 1-3 only
  1. Endometrial scratching and adhesive factor score, day 21-24 cycle prior to IVF//0rv day 3 of IVF cycle not planned before.
  2. Drug &scratching : G-CSF group
  1- 300 µg trans cervical intrauterine of G-CSF was administered at the oocyte retrieval day, 2- subcutaneous 300 micrograms G-CSF on the day of embryo transfer Comparative group patients not treated with G-CSF after scratching if the biopsy adhesive score 4 only
  Scratching only :
  Patients undergoing scratching on day 21-24 of prior IVF cycle/ and on day 5 of IVF cycle with biopsy score of 4.

Eligibility: Inclusion Criteria:
  -  ALL Women aged < 40 years who would be submitted to oocyte retrieval and embryo transfer IN IVF cycle.
  Exclusion Criteria:
  -  • contraindications for G-CSF treatment (sickle cell disease, chronic neutropenia, known past or present malignancy, renal insufficiency, upper respiratory infection, pneumonia, and congenital fructose intolerance)

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

Clinical trial: DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Summary: The main objective of this study is to assess if it is possible, at the end of endocardial voltage mapping, to accurately collect intact cardiomyocytes and to isolate high quality DNA allowing molecular testing of selected genes involved in arrhythmogenic right ventricular cardiomyopathy/dysplasia .

Detailed description: Arrhythmogenic right ventricular cardiomyopathy/dysplasia is associated with mutations in genes encoding proteins from desmosomes and is characterized by a large expression variability. The classical molecular diagnosis from blood cells fails to identify mutations in around 30% of patients. Probes used for endocardial voltage mapping allow to collect some cardiomyocytes which could be used for DNA analysis.
  The aim of this project is to investigate if cardiomyocytes can efficiently be collected during endocardial voltage mapping in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Thirty patients suffering from arrhythmogenic right ventricular cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease diagnosis and/or prognosis assessment will be included. The main outcome will be the percentage of patients in whom mapping will allow to collect intact cardiomyocytes from which high quality DNA extraction will be achieved. Other outcomes include the identification of new mutational mechanisms as somatic mosaicism in selected genes (PKP2, DSCG2 DSP) and the feasibility of epigenetic analysis of these genes.

Eligibility: Inclusion Criteria:
  -  patients needing endocardial voltage mapping in the context of arrhythmogenic right ventricular cardiomyopathy/dysplasia diagnosed using current criteria
  Exclusion Criteria:
  -  Patient under 18 years, pregnant women and patients under legal protection

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

Clinical trial: Effects of DPP4 Inhibitor Versus SGLT2 Inhibitor

Summary: Type 2 diabetes mellitus (type 2 DM) is an important disease with increasing prevalence worldwide. More than 60% of diabetes patients die of CVD. Diabetes is associated with 2-to 4- fold increase in the risk of coronary artery disease (CAD). Diabetes patients with stable ischemic heart disease may have more prevalent of asymptomatic ischemia or silent ischemia due to autonomic neuropathy. Therefore, detection of total myocardial ischemia including both symptomatic and silent ischemia using ambulatory electrocardiogram monitoring may provide better accuracy in ischemic burden and prognosis in diabetes patients. DDP-4 inhibitors have favorable effects on atherosclerotic risk factors beyond glycemic control. Furthermore, DPP-4 inhibitors may have favorable effects on ischemic preconditioning in patients with CAD. For this study we aim to compare the effects of between vildagliptin and Dapagliflozin on ischemic burden defined by total ischemic time, markers of autonomic function, biomarkers of myocardial injury and biomarkers of inflammation.


Eligibility: Inclusion Criteria:
  1. Adult patients (age > 21), male or non-child bearing potential female
  2. Inadequately controlled type 2 diabetes with at least half maximum dose of metformin (HbA1C > 6.5 and < 9.0%)
  3. Stable documented CAD defined as the followings:
  1. Stable angina with > 70% stenosis of at least one major epicardial artery from coronary angiogram (CAG) or coronary CTA
  2. Post myocardial infarction (> 30 days)
  Exclusion Criteria:
  1. Significant renal function (eGFR < 30ml/min)
  2. Significant hepatic impairment or ALT/AST elevations beyond X2 upper normal limit or known hepatic failure
  3. Planned coronary intervention or planed surgical intervention (PCI or CABG)
  4. Recent (<30 day) acute coronary syndrome (ACS)
  5. Hypersensitivity to either of the study drug components
  6. History of lactic acidosis
  7. Type 1 diabetes
  8. Current HbA1c >9%
  9. Current Insulin treatment
  10. Active treatment with GLP-1 or other DPP4i medication
  11. Inability to comply with study protocol
  12. Active malignancy other than basal cell carcinoma
  13. Clinically advanced congestive heart failure - NYHA III-IV
  14. Severe left ventricular dysfunction (LVEF<25%)
  15. Recent heart failure decompensation (<3 months)
  16. Chronic inflammation (i.e. inflammatory bowel disease, lupus, inflammatory arthritis, rheumatoid arthritis) or chronic infection (i.e. chronic diabetic foot infection)
  17. Pregnancy, lactation or child-bearing potential

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

Clinical trial: Open-label Clinical Trial of Lacosamide in ALS

Summary: Lacosamide is administered for patients with amyotrophic lateral sclerosis (ALS).

Detailed description: Lacosamide is administered for patients with amyotrophic lateral sclerosis (ALS). This clinical trial is open-label, single group and before and after comparison study. Dosage of lacosamide is increased from 100mg to 400mg for 4 weeks. Safety of lacosamide administration in ALS is primary endpoint. Nerve excitability, fasciculation and muscle cramp are investigated before and after administration for secondary endpoints.

Eligibility: Inclusion Criteria:
  -  Over 20 year old
  -  Probable or definite ALS disease evaluated by Awaji electrophysiological criteria
  -  Subjects provided informed consent.
  Exclusion Criteria:
  -  Patient without ability to comprehend informed consent
  -  Patient with uncompensated medical illness
  -  Patient with cardiac disease (myocardial infarction, valvular disease and cardiomyopathy etc.)
  -  Patient with arrhythmia (incomplete atrioventricular block and bundle branch block etc.)
  -  Patient with sodium channel disorders, such as Brugada syndrome
  -  Patient already administered anti-arrhythmic drug which prolongs PR interval (interval between arterial and ventral contraction measured by ECG)
  -  Pregnant or breast-feeding woman
  -  Patient with forced vital capacity of < 60% predicted
  -  Patient already performed tracheotomy or tube feeding
  -  Patient who takes any other experimental agents 3 months before.
  -  Not enough compound muscle action potential amplitude in the median nerve to be performed nerve excitability test
  -  Patient who plans to change medicine which affects nerve excitability during this trial 4 weeks
  -  Familial ALS
  -  Patient who is judged inappropriate for this trail by doctors responsible for this trial

Relevance to patient case: not relevant