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

Clinical trial: Safety Study of Peptide Cancer Vaccine To Treat HLA-A*24-positive Advanced Non-small Cell Lung Cancer

Summary: The purpose of this study is to evaluate the safety, tolerability, immune response and clinical efficacies of HLA-A*2402 restricted epitope peptides URLC10, CDCA1, and KIF20A emulsified with Montanide ISA 51 for advanced non-small cell lung cancers.

Detailed description: The investigators previously identified three novel HLA-A*2402-restricted epitope peptides, which were derived from three cancer-testis antigens, URLC10, CDCA1, and KIF20A, as targets for cancer vaccination against lung cancer. In this phase I trial, the investigators examine using a combination of these three peptides the safety, immunogenicity, and antitumor effect of vaccine treatment for HLA-A*2402-positive advanced non-small cell lung cancer patients who failed to standard therapy.

Eligibility: Inclusion Criteria:
  1. NSCLC that can not undergo curative surgery and treatment, and is refractory to standard chemotherapy and radiotherapy
  2. ECOG performance status 0-2
  3. Age between 20 to 85
  4. Clinical efficacy can be evaluated by some methods
  5. No prior chemotherapy, radiation therapy, hyperthermia or immunotherapy within 4 weeks
  6. Life expectancy > 3 months
  7. Laboratory values as follows 1500/mm3 < WBC < 15000/mm3 Platelet count > 75000/mm3 Asparate transaminase < 3 X cutoff value Alanine transaminase < 3 X cutoff value Total bilirubin < 3 X cutoff value Serum creatinine < 2X cutoff value
  8. HLA-A*2402
  9. Able and willing to give valid written informed consent
  Exclusion Criteria:
  1. Active and uncontrolled cardiac disease (i.e. coronary syndromes, arrhythmia)
  2. Myocardial infarction within six months before entry
  3. Breastfeeding and Pregnancy (woman of child bearing potential)
  4. Active and uncontrolled infectious disease
  5. Concurrent treatment with steroids or immunosuppressing agent
  6. Other malignancy requiring treatment
  7. Non-cured traumatic wound
  8. Decision of unsuitableness by principal investigator or physician-in-charge

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

Clinical trial: Safety Study of Peptide Cancer Vaccine To Treat HLA-A*24-positive Advanced Small Cell Lung Cancer

Summary: The purpose of this study is to evaluate the safety, tolerability, immune response and clinical efficacies of HLA-A*2402 restricted epitope peptides CDCA1 and KIF20A emulsified with Montanide ISA 51 for advanced small cell lung cancers.

Detailed description: The investigators previously identified three novel HLA-A*2402-restricted epitope peptides, which were derived from two cancer-testis antigens, CDCA1 and KIF20A, as targets for cancer vaccination against lung cancer. In this phase I trial, the investigators examine using a combination of these two peptides the safety, immunogenicity, and antitumor effect of vaccine treatment for HLA-A*2402-positive advanced small cell lung cancer patients who failed to standard therapy.

Eligibility: Inclusion Criteria:
  1. SCLC that can not undergo curative surgery and treatment, and is refractory to standard chemotherapy and radiotherapy
  2. ECOG performance status 0-2
  3. Age between 20 to 85
  4. Clinical efficacy can be evaluated by some methods
  5. No prior chemotherapy, radiation therapy, hyperthermia or immunotherapy within 4 weeks
  6. Life expectancy > 3 months
  7. Laboratory values as follows 1500/mm3 < WBC < 15000/mm3 Platelet count > 75000/mm3 Asparate transaminase < 3 X cutoff value Alanine transaminase < 3 X cutoff value Total bilirubin < 3 X cutoff value Serum creatinine < 2X cutoff value
  8. HLA-A*2402
  9. Able and willing to give valid written informed consent
  Exclusion Criteria:
  1. Active and uncontrolled cardiac disease (i.e. coronary syndromes, arrhythmia)
  2. Myocardial infarction within six months before entry
  3. Breastfeeding and Pregnancy (woman of child bearing potential)
  4. Active and uncontrolled infectious disease
  5. Concurrent treatment with steroids or immunosuppressing agent
  6. Other malignancy requiring treatment
  7. Non-cured traumatic wound
  8. Decision of unsuitableness by principal investigator or physician-in-charge

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

Clinical trial: Actions Elicited by In-hospital Follow-up of Cardiac Devices

Summary: This study will enroll all patients who will attend an in-hospital follow-up of cardiac device since February 22nd 2010 to June 21st 2010.
  Primary objective of the study is to observe how many of patients seen during these period (approximately 5000) will receive a change in cardiac device programming or in drug therapy or a scheduled or urgent hospital admission.
  These data should help to clarify how useful and safe is a remote monitoring strategy for this kind of patients.

Detailed description: Number of Pacemakers (PM) and Implantable Cardioverter Defibrillators (ICD) is rapidly growing due to enlarged indications. This fact causes an exponential increase in scheduled in-hospital follow-ups. For this reason, all the companies that produce PM and ICD have released systems that allow remote monitoring and follow-up of cardiac devices (both PM and ICD) and U.S. guidelines have already been changed, in order to suggest remote follow-up of these devices at appropriated intervals.
  Nevertheless, informations on actions taken during scheduled in-hospital follow-up are incomplete.
  ATHENS study has been designed to answer to 3 questions:
  1. How often, during a scheduled in hospital follow-up physicians "change" something ? (device programming; drug therapy; scheduled device replacement ...)
  2. The "rate of change" is different is the follow-up is required pby the general practitioner who normally takes care of the patients or by the patient itself?
  3. Change are more frequent during PM or during ICD follow-up or during cardiac resynchronization therapy devices?

Eligibility: Inclusion Criteria:
  -  All patients with a cardiac device
  Exclusion Criteria:
  -  Follow-up of a cardiac device at discharge from hospital after first implant

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

Clinical trial: A Study to Evaluate the Effect of Mipomersen on Cardiac Repolarization Conducted in Healthy Subjects

Summary: To assess the electrocardiogram (ECG) effects of mipomersen administered as a 200-mg subcutaneous (SC) therapeutic and a 200-mg intravenous (IV; [2-hour infusion]) supra-therapeutic dose relative to placebo in healthy adult male and female subjects; and to evaluate the safety and pharmacokinetics (PK) of mipomersen when administered as a single therapeutic (200 mg) SC and a single, supra-therapeutic (200 mg) IV dose.

Detailed description: This will be a randomized, double-blind, single-site, crossover study in healthy male and female subjects to determine if mipomersen administered as a single therapeutic (200 mg) SC and a single supra-therapeutic (200 mg) IV dose delays cardiac repolarization as determined by the measurement of QT/corrected QT (QTc) interval. A total of 60 healthy male and female subjects will be enrolled in this 4-way crossover study, randomly assigned to 1 of 8 treatment sequences, and cross over into 4 treatment periods where each subject will receive both a single SC injection and a single IV infusion during each period.

Eligibility: Inclusion Criteria:
  -  Written informed consent provided before any study-related procedures are performed.
  -  Body mass index (BMI) of 19 to 32 kg/m2 inclusive.
  -  Subjects can not have consumed nicotine or nicotine-containing products for at least 6 months before Screening.
  -  Subjects are nonpregnant and nonlactating, surgically sterile, postmenopausal, abstinent, or subject or partner is willing to use a reliable method of contraception during the study and 5 months after the last dose of investigational product.
  Exclusion Criteria:
  -  History of risk factors for Torsades de Pointes, known Long QT Syndrome, heart failure, myocardial infarction, angina, or clinically significant abnormal laboratory assessments or family history of Long QT or Brugada Syndrome.
  -  Abnormal screening ECG that is interpreted by the Investigator to be clinically significant.
  -  Use of concomitant medications (prescribed or over-the-counter), without the approval of the Investigator and Sponsor, within 7 days before the first dose of investigational product.
  -  Clinically significant abnormal findings on the physical examination, ECG, blood pressure, heart rate, medical history, or clinical laboratory results at Screening or before dosing.
  -  History of clinically significant allergies or hematological, endocrine, pulmonary, gastrointestinal, cardiovascular, hepatic, psychiatric, or neurological disease.
  -  Positive test for HIV antibody, hepatitis C antibody, or hepatitis B surface antigen.
  -  Positive test for drugs of abuse, alcohol, or cotinine at Screening or before dosing or history of drug or alcohol abuse or dependence within 1 year before Screening.
  -  History of cancer, with the exception of basal cell carcinoma.

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

Clinical trial: Lateral Neck Sentinel Lymph Node Biopsy(LSLNB)in PTC

Summary: Objective: To investigate the incidence of lateral neck node occult metastasis and to show the usefulness of sentinel lymph node biopsy (SLNB) in the detection of lateral neck node metastasis in thyroid carcinoma, the investigators used a radioisotope to detect the sentinel lymph node.
  Summary Background Data: Although occult lymph node metastasis to the lateral neck compartment is common in papillary thyroid carcinoma, the incidence and patterns of lateral neck node metastasis in papillary carcinoma are not known.

Detailed description: On the day of the operation, patients underwent preoperative lymphoscintigraphy after the intratumoral injection of a Tc-99m phytate 1 mCi in 0.1-0.2 mL 0.9% NaCl under ultrasonographic guidance. Total thyroidectomy or lobectomy with central neck dissection preceded SLN detection to avoid interference by primary tumor radioactivity. After total thyroidectomy or lobectomy, the dissections were performed toward the internal jugular chain beneath the sternocleidomastoid muscle. A handheld, collimated gamma probe and lymphoscintigraphy were used to scan the lateral compartments (through skin and under the SCM) for "radioactive" lymph nodes. Removed SLNs were submitted immediately for frozen biopsy. If any of the SLNs were positive for metastasis on the frozen sections, MRND was performed immediately. In cases for which the frozen section was negative but the final pathology report detailed microscopic positivity in the lateral sentinel nodes, RAI ablations were performed without additional MRND.

Eligibility: Inclusion Criteria:
  -  Cases with tumors larger than 1 cm in size or with suspicious central neck node metastasis in Papillary thyroid cancer
  Exclusion Criteria:
  -  The patient with definite metastatic lymph node in lateral neck compartment

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

Clinical trial: A Study of the Efficacy and Safety of Vernakalant Hydrochloride (MK-6621) in Patients With Atrial Fibrillation (MK-6621-010 AM4)

Summary: This study will investigate if treatment with vernakalant hydrochloride (MK-6621) results in a greater proportion of patients with treatment-induced conversion of Atrial Fibrillation to sinus rhythm compared to placebo.

Detailed description: Amendment 4 of the protocol revised the planned enrollment to 123 participants and removed China as one of the countries participating in the study.

Eligibility: Inclusion Criteria:
  -  Abstinent or willing to use 2 acceptable methods of birth control
  -  Patient has an atrial arrhythmia with dysrhythmic symptoms
  -  Patient is receiving adequate anticoagulant therapy
  -  Patient has stable blood pressure
  -  Patient weighs between 45 and 136 kg (99 and 300 lbs)
  -  Patient is adequately hydrated
  Exclusion Criteria:
  -  Patient is pregnant, breast-feeding, or expecting to become pregnant during the study
  -  Patient routinely consumes more than 2 alcoholic drinks per day
  -  Patient has known or suspected prolonged QT, familial long QT syndrome, previous Torsades de Pointes, Brugada syndrome
  -  Patient has known bradycardia, advanced AV block, or sick-sinus syndrome, unless controlled by a pacemaker
  -  Patient has severe aortic stenosis
  -  Patient has atrial flutter
  -  Patient has Class IV congestive heart failure (CHF)
  -  Patient has had a myocardial infarction (MI) or acute coronary syndrome (ACS)
  -  Patient has had cardiac surgery within 30 days
  -  Patient has known atrial thrombus
  -  Patient has reversible causes of Atrial Fibrillation
  -  Patient has failed electrical cardioversion during current episode of Atrial Fibrillation
  -  Patient has uncorrected electrolyte imbalance
  -  Patient has clinical evidence of digoxin toxicity
  -  Patient has received certain antiarrhythmic drugs or intravenous amiodarone within 7 days
  -  Patient is known to be HIV positive
  -  Patient has a history of cancer within the past 5 years, except for certain skin or cervical cancers

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

Clinical trial: Pharmacokinetic Study to Investigate Low-dose Combinations of a Cocktail of Seven Drugs for Simultaneous Phenotyping of Cytochromes

Summary: The purpose of this study is to assess whether a cocktail of seven approved drugs (so-called "Basel cocktail") can be used for simultaneous phenotyping of CYP1A2, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP2E1 and CYP3A4.


Eligibility: Inclusion Criteria:
  -  Signed informed consent
  -  Male aged between 18 and 45 years
  -  No clinically significant findings on the physical examination
  -  Body mass index (BMI) between 18 and 28 kg/m2
  -  Systolic blood pressure (SBP) 100-145 mmHg, diastolic blood pressure (DBP) 50-90 mmHg, and heart rate (HR) 45-90 bpm (inclusive)
  -  12-lead electrocardiogram (ECG) without clinically relevant abnormalities
  -  Hematology and clinical chemistry results not deviating from the normal range to a clinically relevant extent
  -  Negative results from urine drug screen
  -  Ability to communicate well with the investigator and to understand and comply with the requirements of the study
  Exclusion Criteria:
  -  Known hypersensitivity to any excipients of the drug formulations
  -  Treatment with another investigational drug within 30 days prior to screening
  -  History or clinical evidence of alcoholism or drug abuse within the 3-year period prior to screening
  -  Excessive caffeine consumption, defined as mor than 800 mg per day
  -  History or clinical evidence of any disease and/or existence of any surgical or medical condition, which might interfere with the absorption, distribution, metabolism or excretion of the study drug
  -  Smoking within the last 3 months prior to screening
  -  Previous treatment with any prescribed or OTC medications (including herbal medicines such as St John's Wort) within 2 weeks prior to screening
  -  Loss of 250 ml or more of blood within 3 months prior to screening
  -  Any circumstances or conditions, which, in the opinion of the investigator, may affect full participation in the study or compliance with the protocol
  -  Legal incapacity or limited legal capacity at screening

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

Clinical trial: Clinical Use of Parental Support To Detect Single Gene Mutations

Summary: Gene Security Network has developed a novel technology called Parental Support (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF). This technology allows IVF physicians to identify embryos, prior to transfer to the uterus, which have the best chance of developing into healthy children.

Detailed description: This study follows previous IRB approved study IVF008: Clinical Use of Parental Support To Detect Single Gene Mutations , which we will refer to as "Phase I".
  The purpose of Phase I was to validate clinical use of PS to detect specific genetic mutation(s) known to cause severe inheritable diseases in embryos produced by at-risk couples, while simultaneously testing these embryos for aneuploidy. The Phase I study consisted of first of its kind PGS/D testing to detect disease-associated genetic mutations together with aneuploidy screening.
  This study, which we will call "Phase II", will allow patients to continue to access testing while clinical data is collected on Phase I. Phase I of the study is nearing enrollment targets (40+ participating couples) and Phase I enrollment will be closed while subjects complete testing and study data is collected from pregnancies and livebirths. Phase II will allow: 1) additional data collection prior to commercial testing launch, 2) eligible patients to participate and receive testing.

Eligibility: Inclusion Criteria:
  At risk couple (mother and father) who are:
  -  Able to provide laboratory report from commercial CLIA certified laboratory in the United States or legitimate non-US laboratory confirming presence of disease associated mutation in mother and/or father
  -  Planning to go through IVF and desiring PGD for the specified mutation
  -  Planning to pursue Chorionic Villus Sampling (CVS) or Amniocentesis if pregnancy occurs and willing/able to provide CVS/ Amniocentesis sample to GSN for confirmatory testing or provide test results of confirmatory testing performed by an external laboratory.
  Exclusion Criteria:
  -  Couples without prior documentation of genetic mutation as specified above
  -  Couples where the male partner is not willing, able, or available to provide a semen sample
  -  Unwilling to have CVS/ Amniocentesis
  -  In certain cases, unavailability of child sample or other suitable family member: Subjects will not be able to enroll in the study if, in the judgment of the research staff, validation is first required on a child (offspring of male and female subject) and there is no child or other family member that is a suitable substitute available for testing.

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

Clinical trial: Validation of the Accuracy of DNA Fingerprinting Using Polar Bodies and Embryonic Cells

Summary: The purpose of this study is to validate the ability to assess the genetic differences (DNA fingerprinting) on polar bodies (excess genetic material given off from the egg) and cells so that this technique may be used in the future to confirm markers of reproductive competence and improve the efficiency and safety of clinical human in vitro fertilization.

Detailed description: Our group has recently validated a technique involving whole genomic amplification followed by single nucleotide polymorphisms (SNP) analysis which allows DNA fingerprinting of single cells. Given that there are more than 3.3 billion base pairs that constitute the human genome, there are approximately 3 million sites where routine variation in the genetic code exists. These SNPs have been identified on average to occur approximately once every 1000 base pairs (bp) and are present on all chromosomes.
  100 couples will undergo routine in vitro fertilization (IVF) stimulation, the protocol to be determined by the patient's primary doctor. Following oocyte retrieval and intracytoplasmic sperm injection (ICSI), the first polar body will be biopsied using standard laboratory procedures, and sent for genetic analysis. 24 hours later, the second polar body will be biopsied and sent for genetic analysis. Finally, the embryos will be biopsied prior to transfer and the cell will be sent for gentic analysis. Genetic results are not available prior to transfer and there are be no delays in the treatment schedule as a result of the study. Buccal swabs are collected from infants. SNP profiles are created from the polar body and embryo biopsies which are then compared to the SNP profiles created from the buccal swabs.

Eligibility: Major Inclusion: The following are major inclusion criteria:
  1. Maximum of one prior failed IVF treatment cycle
  2. Female partner less than 43 years of age
  3. Normal day 3 FSH level (<12 mIU/mL)
  4. Basal antral follicle count greater than or equal to 8
  5. Ejaculated sperm specimen from the male partner with greater than 100,000 total motile
  6. Donor sperm okay if patient is willing to purchase 3 extra vials for DNA testing
  Exclusions: The following are exclusion criteria:
  1. Diagnosis of chronic anovulation secondary to polycystic ovarian disease
  2. Diagnosis of endometrial insufficiency
  3. Clinical indication for PGD
  4. Testicular biopsy or aspiration procedures to obtain sperm

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

Clinical trial: Study of Gene Associations and Infertility

Summary: The purpose of this this study is to use DNA screening strategies to identify genes and localize genomic regions that are differentially expressed in patients with infertility to further understand the genetic basis for reproductive competence.

Detailed description: Experimental strategies seek to discover small variants in DNA sequences, which are associated with certain infertility parameters. The alleles being analyzed in in vitro fertilization (IVF) population are sought to be associated with functional differences in the expression of the gene product that are then mechanistically linked to infertility.

Eligibility: Inclusion Criteria:
  -  all patients undergoing fertility care
  Exclusion Criteria:
  -  none

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

Clinical trial: Endometrial Scratching Prior to Controlled Ovarian Stimulation (COH) in Women Undergoing In-vitro Fertilization With Previous IVF Failure

Summary: Scratching the linning of the womb before IVF cycle could increase the chances of having a baby after an IVF cycle.

Detailed description: All women with history of RIF (as defined by ESHRE) and who wish to undertake another assisted conception treatment cycle are invited to participate in the trial. Women will be randomised to two arms; one undergoing endometrial sampling and control. Women in the experimental arm will be subjected to endometrial scrapping with Pipelle biopsy catheter two times; on days 21 and 26 of the cycle prior to the IVF index cycle and after initiation of the GnRHa in the long agonist protocol. Women in the control group will undergo a placebo procedure using the uterine sound on the same days of the cycle like women in the intervention group.

Eligibility: Inclusion Criteria:
  WOMEN WITH PREVIOUS IVF FAILURE UNDERGOING IVF TREATMENT
  -
  Exclusion Criteria:
  -  WOMEN>40 YEARS OLD WOMEN UNDERGOING THEIR FIRST IVF TREATMENT CYCLE

Relevance to patient case: not relevant