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

Clinical trial: A Study of ARQ 197 in Combination With Erlotinib

Summary: This is a phase I study to determine the safety, tolerability and recommended phase II dose of ARQ 197 given in combination with erlotinib as primary endpoints in CYP2C19 poor metabolizer patients with advanced/recurrent non-small-cell lung cancer. The pharmacokinetic profile and antitumor activity of ARQ 197 administered alone or in combination with erlotinib will also be determined as secondary endpoints.


Eligibility: Inclusion Criteria:
  -  Voluntary written informed consent for study participation must be obtained
  -  A histologically or cytologically confirmed advanced/recurrent non-small-cell lung cancer
  -  History of ≥1 prior chemotherapy regimen (treatment with EGFR tyrosine kinase inhibitors will be counted as one regimen)
  -  ECOG PS of 0 or 1
  -  Life expectancy of ≥3 months
  -  Poor metabolizers as defined by CYP2C19 genotype
  Exclusion Criteria:
  -  Anti-cancer chemotherapy, anti-cancer therapy with EGFR-TKI, hormone therapy, radiotherapy, immunotherapy, other investigational agents or anti-cancer antibody therapy within 28 days prior to ARQ 197 dose
  -  Surgery for cancer within 28 days prior to ARQ 197 dose
  -  Active double cancer
  -  Known symptomatic brain metastases
  -  An intercurrent illness that is uncontrolled (e.g., infection, symptomatic congestive heart failure, unstable angina pectoris, symptomatic arrhythmia, interstitial pneumonia)
  -  Pregnant or lactating
  -  Subjects who wish to have a child and who would not agree to use contraceptive measures

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

Clinical trial: Assessing the Impact of the Early and Systematic Hormonal Replacement After Radio-isotopic Ablation of Graves'hyperthyroïdism on Quality of Life, Efficiency and Tolerance

Summary: The aim of our study is to compare in a randomized multicentric study the early prophylactic introduction of low dose of LT4 (50 µg/d) at 15 days post-ablation (experimental arm) compared to a conventional approach based on the initiation of LT4 as soon as the first biological signs of hypothyroidism. Two hundred patients with Graves' disease with no or minimal (eyelid retraction or oculopalpebral asynergy) and non inflammatory ophthalmopathy (clinical activity score to 0) will be included in this study. The administrated iodine-131 activity will be adjusted to the weight of the thyroid gland (20 MBq/g thyroid tissue). Patients will be evaluated at 6 weeks, 3 months, 6 months and 12 months post-ablation. The primary objective will assess differences in terms of quality of life at 3 months using a specific questionnaire (ThyPRO). Secondary objectives will compare quality of life outcomes at different study visits (using ThyPRO and SF36), fatigue (MFIS) and depression (Beck), autoimmune parameters (signs of ophthalmopathy, TSH receptor antibodies assessment), efficacy and medico-economic data.


Eligibility: Inclusion Criteria:
  -  Patient presenting a hyperthyroïdie Basedowienne proving a treatment by iodine 131.
  -  Patient without or with ophtalmopathie junior defined by a score of ophtalmopathie in 0 or in 1 and a score of clinical activity in 0 (see secondary).
  -  Patient whose rate of fT4 and\or of fT3 is lower than 1,5 times the superior limit of the standards of the laboratory during the balance sheet(assessment) which precedes the treatment by iodine 131 (15j.
  -  Patient whose thyroïdien volume estimated by echography is lower than 60 mL.
  -  Patient whose treatment by anti-thyroïdiens of synthesis was interrupted at least 5 days before the administration of iodine 131.
  -  18 years old male or feminine Patient or more.
  Exclusion Criteria:
  -  Patient presenting a thyroïdien nodule suspect of wickedness.
  -  Patient presenting disorders not thyroïdiens known to distort the fixation of I131 (congestive heart failure of class III or IV, renal insufficiency).
  -  Patient having received by intravenous way a product of hydrosoluble contrast for radiography in 4 weeks preceding the randomization, or by way intra-thécale or for cholécystographie by a product of contrast iodized in three months preceding the randomization.
  -  Patient taking medicines susceptible to disrupt the function thyroïdienne or renal (renal medicines, lithium, amiodarone, in particular).
  -  Patient presenting a contraindication to Levothyroxine with high dose: décompensée heart disorder, coronaropathie, shady of the unchecked rhythm.
  -  pregnant or breast-feeding Women, or patient being able to have children and refusing to follow a reliable contraceptive method during the duration of the study.

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

Clinical trial: Efficacy of Gamma Camera Used Intraoperatively for ID of Sentinel Lymph Nodes w/ Lymphoscintigraphy

Summary: This study evaluates the ability of a prototype intraoperative handheld gamma camera (pIHGC) to image (detect) sentinel lymph nodes (SLNs) in melanoma and breast cancer during surgical excision, as compared to standard of care intraoperative gamma probes (GP). The unit of study in this trial was SNLs rather individual participants. Each device was assessed for relative node detection sensitivity (S) of those SLNs.

Detailed description: Lymphoscintigraphy is an accepted and commonly-performed procedure used for staging of certain cancers, especially melanoma and breast cancer. It involves injecting a small amount of radioactivity under the skin in order to identify lymph nodes which should be biopsied (ie, the "sentinel lymph node, SLN") to determine if cancer has spread. The study objective was to evaluate the potential benefit of a new, camera-based technology (prototype device) which allows actual images to be obtained intra-operatively in the identification of sentinel nodes.
  Each device was assessed for relative node detection sensitivity (S), defined as the proportion of sentinel lymph nodes (SLNs) that were identified with each instrument, with the proportion determined as the number of true positives (TP) divided by the total evaluated (N).

Eligibility: INCLUSION CRITERIA
  -  Malignancy for which sentinel node biopsy with lymphoscintigraphy are indicated as part of the standard of care for tumor staging
  -  Age 18 or greater.
  -  Healthy enough for surgery
  -  Able to understand and willing to sign a written informed consent document.
  EXCLUSION CRITERIA
  -  No exclusion requirements due to co-morbid disease or intercurrent illness.
  -  Documented allergy to colloid.
  -  Lymphoscintigraphy presents excessive high risk, eg, a consideration if pregnant or lactating

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

Clinical trial: Efficacy and Safety Study of GSK1120212, a MEK Inhibitor, in Subjects With Uveal Melanoma

Summary: The purpose of this study is to determine whether GSK1120212, a MEK inhibitor, is an effective and safe treatment for cancer subjects with metastatic uveal melanoma and mutation-positive GNAQ or GNA11 metastatic melanoma.


Eligibility: Inclusion Criteria:
  -  Histologically or cytologically confirmed diagnosis of metastatic uveal melanoma or previously documented mutation-positive GNAQ or GNA11 metastatic melanoma not previously treated with a MEK inhibitor.
  -  Provide archival tumor tissue or, if tissue blocks are not available, undergo fresh tumor biopsy prior to enrollment.
  -  The patient has a radiographically measurable tumor.
  -  ECOG performance status 0, 1, or 2.
  -  The patient is able to swallow and retain oral medication.
  -  Life expectancy of at least 4 months.
  -  Toxicities from previous anti-cancer therapy (except alopecia) are recovered (Grade 1 or less) at the time of enrollment.
  -  The patient has adequate organ and bone marrow function.
  -  Sexually active patients must use medically acceptable methods of contraception during the course of the study.
  -  Female patients of childbearing potential must have a negative serum pregnancy test at screening.
  Exclusion Criteria:
  -  The patient has had any of the following within 21 days of starting study drug or anticipates the need for any of the following during the course of study treatment: chemotherapy, immunotherapy, biologic therapy, hormone therapy, major surgery, or tumor embolization.
  -  The patient has received experimental therapy within 21 days of starting study drug.
  -  The patient has received nitrosourea or mitomycin C within 42 days of starting study drug.
  -  The patient has received any herbal medications or palliative radiotherapy within 14 days of starting study drug.
  -  The patient is currently receiving anticoagulation therapy that is not well controlled.
  -  Ongoing or newly diagnosed eye abnormality other than symptoms due to uveal melanoma.
  -  History of retinal vein occlusion or central serous retinopathy.
  -  Current severe, uncontrolled systemic disease.
  -  History of leptomeningeal disease or spinal cord compression secondary to metastasis.
  -  Brain metastasis, unless previously treated with surgery, whole-brain radiation or stereotactic radiosurgery and the disease has been stable for at least 3 months without steroid use or on a stable dose of steroids for at least 1 month prior to starting study drug. Stability of brain metastases must be confirmed with imaging.
  -  The patient has a concurrent, active hematological malignancy or other solid tumor malignancy.
  -  History of clinically significant cardiac or pulmonary dysfunction.
  -  Allergy or hypersensitivity to components of the GSK1120212 formulation.
  -  The patient is pregnant or breastfeeding.

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

Clinical trial: Gene-polymorphisms Relating to Human Subfertility

Summary: Estradiol is synthesized by granulosa cells of ovaries under control of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). It is known that Estradiol plays a crucial role in maturation and fertilization of oocytes. Furthermore it is involved in development of secondary female sexual organs, fertility and maintenance of pregnancy.
  Estradiol influences these processes by binding to estradiol receptors (ER). They are ligand-depending transcription-factors. In humans there are two subtypes: ERa and ERb, which are synthetized from gene ESR1 on chromosome 6 and ESR2 on chromosome 14. Both subtypes are expressed in the ovary. Both genes are polymorph. Especially for ERa subtype several polymorphisms and mutations are known which can be linked to breast cancer, spontaneous abortions, osteoporosis and the point in time of menarche. Furthermore some studies have shown a relationship between certain polymorphisms and the risk of infertility associated gynecological malfunctions and the result of IVF treatments.
  Progesterone is a hormone which plays a crucial role in initiation and maintenance of pregnancy. It induces the transformation of the endometrium, which facilitates the implantation of the fertilized oocyte and supports the pregnancy. Progesterone acts by binding to its receptor. The gene for this receptor is polymorph within the population, whereas some variants seem to account for implantation failure of embryos.
  In the investigators study the investigators will analyse the role of ERP and PRP polymorphisms in the context of IVF treatment. The analyzed genotypes are two polymorphisms of ESRI, called Pvu and Xba, as well as a variant of ESRII, ER2. In the progesterone receptor gene a single nucleotide exchange at position +331 (G->A) plays a role.
  The parameters correlated with are concentrations of estradiol, progesterone and FSH, number of follicles, number of fertilized oocytes and pregnancy rate.
  The investigators hope to optimize established treatment protocols and to improve the chances of success of IVF treatments depending on the genotype of the patient.


Eligibility: Inclusion Criteria:
  -  IVF/ ICSI treatment with hormonal stimulation
  -  reproductive age
  -  high response OR low response OR male subfertility
  Exclusion Criteria:
  -  other fertility treatments like IUI or timed intercourse

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

Clinical trial: The Impact of Lifestyle Behavior on in Vitro Fertilization (IVF) Outcome

Summary: The purpose of this study is to prospectively examine the impact of various lifestyle habits in both men and women on the outcome of in vitro fertilization. There are 25 infertility centers in the United States which use the electronic medical record collection entity eIVF, made by Practice Highway, to collect medical and demographic information on the patients who are undergoing treatment at these centers. Information on every aspect of each cycle is also electronically collected daily during each cycle. Demographic and lifestyle information will be collected on all patients prior to cycle start and lifestyle habit information will be collected each time a patient logs onto the patient portal, which averages every few days.


Eligibility: Inclusion Criteria:
  Eligible patients include, any patient whose:
  -  infertility clinic uses eIVF
  -  is scheduled to undergo an IVF cycle
  -  has access to the internet on a daily basis
  -  can read and understand English
  -  logs onto the patient portal on eIVF

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

Clinical trial: Impact of Folates in the Care of the Male Infertility

Summary: Unexplained male infertility is increasing, and, nowadays, the investigators only can propose palliative treatment, as In VITRO Fertilization (IVF). The folate metabolism is a key for the maintenance of genome integrity. A dysfunction in this pathway can be responsible of spermatogenesis defects, and further, of infertility. Few assays have shown that folate treatment can improve sperm parameters and fertility, till 30% in some of theses studies. The purpose of the investigators study is to demonstrate the impact of folates treatment on improvement of sperm parameters and on the rate of success of in VITRO fertilization procedures.

Detailed description: The folate impact in the treatment of male infertility will be reviewed by this large multicentric randomized controlled double-blind study comparing 2 parallel groups of 184 patients. In each group: folic acid 15mg/day versus placebo, orally for at least 3 months (duration of a cycle of spermatogenesis). This assay will evaluate the effectiveness of treatment with folic acid compared to its placebo in infertile men with the outcome of IVF+/-ICSI techniques (pregnancy rate). It will also assess the impact of folate therapy on sperm parameters, and further, the impact on abnormal sperm DNA methylation profiles.

Eligibility: Inclusion Criteria:
  -  Couple whose man is from 18 to 60 years old
  -  Couple whose man presents an infertility indicating a care in VITRO fertilization with or without intracytoplasmic sperm injection (IVF +/- ICSI)
  -  Couple whose spouse is from 18 to 38 years old
  -  Couple whose spouse do not present particular factors of infertility
  -  Couple Taken care in IVF +/- ICSI
  -  Couple with social insurance
  -  2 members of the couple having signed the consent
  Exclusion Criteria:
  -  Etiology of not genetic known male infertility : infertility of neoplastic origine, infertility of definitive obstructive origin
  -  Presence of a factor of feminine infertility : A definitive infertility tubal, Turned out ovarian incapacity (FSH > 9 and/or CFA <= 8)
  -  Male infertility requiring the appeal to some sperm testicular or in some frozen sperm- Men or women attend of HIV or hepatitis B or C
  -  Epileptic men
  -  Men under anti-folic treatment
  -  Men presenting a big sensibility to the folic acid or to one of the constituents of the drug
  -  Couple of which one of the partners refuses to participate in the study

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

Clinical trial: Ventricular Pace Suppression Versus Intrinsic Rhythm Support Study

Summary: The objective of this study is to intra-individually compare the performances of two pacemaker algorithms designed to reduce unnecessary right ventricular pacing: Intrinsic Rhythm Support Plus (IRSplus) and Ventricular Pace Suppression (VpS). The study will compare ventricular pacing percentage, long-term atrio-ventricular conduction time, occurrences of atrial tachyarrhythmic events and atrial fibrillation burden percentage in patients implanted with a pacemaker for Sick Sinus Syndrome.


Eligibility: Inclusion Criteria:
  -  Patients over 18 years of age;
  -  Patient has proven informed consent;
  -  Subject with indication of dual chamber pacemaker due to Sinus Node Dysfunction;
  -  Subjects with a dual chamber pacemaker already implanted within six months from enrollment, provided that ventricular pacing percentage ≤ 40% and with the right ventricular lead in the apical position;
  -  Stable medical situation;
  -  Stable geographical situation;
  Exclusion Criteria:
  -  Permanent or paroxysmal AV block ≥ II;
  -  Permanent Atrial fibrillation/Atrial flutter;
  -  Device Replacement;
  -  Patient with a poor echocardiographic window;
  -  Patient already implanted with the right ventricular lead not in the apical position;
  -  Subjects with a dual chamber pacemaker, implanted later than six months;
  -  Subjects with a dual chamber pacemaker with ventricular pacing percentage ≥ 40%;
  -  Contraindication for DDD(R)-ADI(R) or DDD(R) pacing modes;
  -  VpS or IRSplus algorithm contraindications;
  -  Age < 18 years;
  -  Life expectancy < 12 months;
  -  Cardiac surgery planned within the FU period;
  -  Participation to another clinical investigation;

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

Clinical trial: Study in Healthy Volunteers to Investigate the Effects of Quinidine on the Pharmacokinetics of NKTR-118

Summary: Study in healthy volunteers to investigate the effects of Quinidine on the Pharmacokinetics of NKTR-118

Detailed description: A Randomized, 2-Part, Crossover, Single Center Study to Evaluate Effect of Quinidine on the Pharmacokinetics of NKTR-118 and the Concomitant Effect of Quinidine and NKTR-118 on Morphine-induced Miosis

Eligibility: Inclusion Criteria:
  -  Provision of signed and dated, written informed consent prior to any study-specific procedures.
  -  Male and female (nonchildbearing potential, nonlactating) healthy volunteers aged 18 to 55 years inclusive, with suitable veins for cannulation or repeated venipuncture.
  -  Female volunteers must be nonpregnant and nonlactating. Women of childbearing potential must have negative pregnancy test (screening and admission) and be using a highly-effective form of birth control for 3 months before enrollment.
  -  Male volunteers should be willing to use barrier contraception ie, condoms, from the first day of dosing until 3 months after dosing with the IP. The female partner should use contraception during this period.
  -  Volunteers must have a BMI between 18 and 30 kg/m2, inclusive, and weigh at least 50 kg.
  Exclusion Criteria:
  -  Any clinically significant disease or disorder (eg, cardiovascular, pulmonary, gastrointestinal, liver, renal, neurological, musculoskeletal, endocrine) which, may put the volunteer at risk of participation in the study, or influence of the ADME of drugs.
  -  Any clinically significant illness, medical/surgical procedure or trauma within 4 weeks of the first administration of IP.
  -  Any clinically significant abnormalities in clinical chemistry, hematology, or urinalysis results as judged by the Investigator.
  -  History (personal or family) of torsades de pointes, any other polymorphic ventricular tachycardia, long QT syndrome, sudden death or Brugada syndrome, or personal history of sustained (greater than 30 s) monomorphic ventricular tachycardia.
  -  Abnormal vital signs, after 10 minutes supine rest as defined in protocol.

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

Clinical trial: Development of Minidose Inje Cocktail Method for Simultaneous Evaluating Five Cytochrome P450 Isoforms in Human

Summary: The investigators objectives were developing mini dose five-drug cocktail regimen to evaluate potential drug-drug interactions associated with use of a cocktail of caffeine, losartan, omeprazole, dextromethorphan, and midazolam for simultaneous assessment of CYP1A2, CYP2C9, CYP2C19, CYP2D6, and CYP3A activities.

Detailed description: The investigators objectives were developing minidose five-drug cocktail regimen to evaluate potential drug-drug interactions associated with use of a cocktail of caffeine, losartan, omeprazole, dextromethorphan, and midazolam for simultaneous assessment of CYP1A2, CYP2C9, CYP2C19, CYP2D6, and CYP3A activities.

Eligibility: Inclusion Criteria:
  -  Healthy male subject whose CYP2C9, CYP2C19, CYP2D6 genotype was determined
  Exclusion Criteria:
  -  Subject who has abnormal laboratory test results

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

Clinical trial: Efficacy Study of Sodium Channel Blocker in LQT3 Patients

Summary: The purpose of this study is to determine whether late sodium channel blockade might be effective in shortening the QTc interval in various LQT3 mutations and be considered as a safe therapeutic option for LQT3 patients.

Detailed description: LQT3 mutations in the LQTS Registry will be studied using in vitro expression studies to determine whether ranolazine causes a decrease in late sodium current, slower recovery from inactivation and/or changes in time course of inactivation, ameliorating the causative functional effect of each individual mutation.
  Individuals with select LQT3 mutations already studied in vitro will be invited to participate in a short term (2 day) study in the Clinical Research Center studying the effects of an oral dose of ranolazine on QTc duration and other ECG, echocardiogram and Holter-derived parameters.
  The same individuals, as well as other individuals with the same mutation, will be invited to participate in a 6-month study involving ranolazine and matched placebo, to help evaluate the long-term effectiveness of ranolazine in the population. Periodic ECGs and 24-hour Holter recordings will be obtained for evaluation of QTc duration and other ECG and Holter-derived parameters.

Eligibility: Inclusion Criteria:
  -  Genotyped positive for LQT3 (SCN5A) mutation
  -  Age 21 years or older
  -  Not currently taking an antiarrhythmic drug (beta blockers are allowed)
  -  Enrolled in LQTS Registry
  Exclusion Criteria:
  -  Age less than 21 years
  -  Not confirmed to have an LQT3 mutation
  -  Significant co-morbidity that would preclude subject's safe participation in this study
  -  Females who are pregnant or nursing
  -  Females of childbearing age who are not using acceptable method of birth control
  -  Evidence of prior sensitivity to ranolazine
  -  Hepatic or renal disease that might adversely affect ranolazine excretion
  -  Currently taking strong CYP3A inhibitors
  -  Currently taking P-gp inhibitors
  -  Currently taking CYP3A inducers
  -  In vitro studies of specific mutation show no effect of ranolazine on late sodium current kinetics or show repolarization prolongation

Relevance to patient case: not relevant