araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: The Pharmacokinetics of Sirolimus When Combined With Cyclosporine or Tacrolimus in Renal Transplant Patients

Summary: The purpose of this study is to understand the pharmacokinetic of sirolimus in different regimens, as well as the dose-level relationship of cyclosporine and tacrolimus, and design the most appropriate cyclosporine/sirolimus/steroid or tacrolimus/sirolimus/steroid dose regimen for Taiwanese.

Detailed description: The dose and pharmacokinetic of an immunosuppressant may differ in different ethnics, and different combinations.
  The purpose of this study is to determine the dose-level relationship of sirolimus through pharmacokinetic study. The dose-level relationship of cyclosporine and tacrolimus was also assessed. From clinical outcome and blood level of sirolimus and cyclosporine or tacrolimus, we can design the most appropriate cyclosporine/sirolimus/steroid or tacrolimus/sirolimus/steroid dose regimen for Taiwanese.

Eligibility: Inclusion Criteria:
  -  De novo kidney transplantation patients, aged 13－65 years,have aminotransferase concentrations within 2 times the upper limit of normal.
  Exclusion Criteria:
  -  pregnancy, tuberculosis, hepatitis B or C carrier status, human immunodeficiency virus－positive status, retransplantation or multiorgan transplantation, or history of rheumatoid arthritis.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Sirolimus Blood Concentrations on Conversion From Oral Solution to Tablets

Summary: The purpose of this study is to understand the pharmacokinetics of sirolimus tablets in different regimens in newly renal transplant patients, and the effect of dosage form conversion on the concentration of sirolimus in stable renal transplant patients. So that we can design a better tacrolimus or cyclosporine/sirolimus/steroid dose regimen for Taiwanese.

Detailed description: Sirolimus tablets will be available more than one year after the launch of sirolimus solution. Most patients on sirolimus solution will use sirolimus tablet instead.
  The purpose of this study is to understand the pharmacokinetics of sirolimus tablets in different regimens in newly renal transplant patients, and the effect of dosage form conversion on the concentration of sirolimus in stable renal transplant patients. So that we can design a better tacrolimus or cyclosporine/sirolimus/steroid dose regimen for Taiwanese.

Eligibility: Inclusion Criteria:
  -  ages of 18 and 65, renal transplant patients
  Exclusion Criteria:
  -  pregnancy, tuberculosis, hepatitis B or C carrier status, human immunodeficiency virus－positive status, retransplantation or multiorgan transplantation, or history of rheumatoid arthritis before transplantation

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Everolimus Versus Mycophenolate Mofetil in Combination With Reduced Dose Cyclosporine Microemulsion in Maintenance Heart Transplant Recipients

Summary: In this study two immunosuppressive regimens (everolimus in combination with cyclosporine microemulsion and mycophenolate mofetil with cyclosporine microemulsion) with reduced dose cyclosporine microemulsion are compared in maintenance heart transplant recipients with impaired renal function.


Eligibility: Inclusion Criteria:
  -  Recipients of primary heart transplant
  -  Reduced renal function (serum creatinine > 1.7 ng/mL over 2 months or more) at 6 months or more after heart transplantation
  -  Patients with current immunosuppressive therapy consisting of cyclosporine microemulsion and mycophenolate mofetil
  Exclusion Criteria:
  -  Patients who are recipients of multiple organ transplants
  -  Patients who have previously received an organ transplant
  -  Patients with serum creatinine > 3.5 mg/dl
  Other protocol-defined exclusion criteria may apply.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Polymorphism of the Cytochrome P450-system in Renal Transplants

Summary: In this study the researchers want to investigate genetic polymorphisms of cytochrome 450 enzymes and the multiple drug resistance (MDR) gene in renal transplant patients to look for differences in dosing of immunosuppressive drugs (tacrolimus, sirolimus, everolimus, cyclosporine A).
  All patients who receive one of these drugs can be included and drug blood trough levels, dosing and genetics are compared.

Detailed description: Primary endpoint is the
  1. serum creatinine in patients with and without polymorphysms
  2. rate of rejections in patients with and without polymorphysms

Eligibility: Inclusion Criteria:
  -  Renal transplant patients receiving one or more of the following drugs:
  -  tacrolimus
  -  sirolimus
  -  everolimus
  -  cyclosporin A
  -  fluvastatin
  -  Informed consent given by the patient

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome

Summary: The aim of the study is to test the hypothesis that a chromoscopy colonoscopy is able to increase by 50 % the number of pre-cancer lesions or early cancer detected in patients with HNPCC syndrome, compared to a routine colonoscopy without chromoscopy.

Detailed description: Patient with HNPCC syndrome confirmed by a mutation (MLH1, MSH2, MHS1) are involved in the study. Patient have 2 colonoscopy back to back. The second coloscopy is associated to chromoscopy with carmin indigo. Endoscopist are randomised for the colonoscopy with chromoscopy and are un-awarded of the result of the first colonoscopy. Histopathology of the polyp are noted. The follow up were 1 month.

Eligibility: Inclusion Criteria:
  -  Patients with MLH1, MSH2 or MSH6 mutation.
  -  Patients concerned by early detection colonoscopy.
  Exclusion Criteria:
  -  Coloscopy of tracking since less 1an
  -  occlusive Syndrome contra-indicating the preparation for a total coloscopies
  -  Colectomies
  -  medical Conditions or serious illnesses contra-indicating a coloscopy of screening
  -  pregnant Woman or nursing
  -  Anomaly of coagulation contra-indicating the realization of biopsies and/or the exeresis of the lesion colorectal

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Multicentre 2x2 Factorial Randomised Study Comparing Tirofiban Versus Abciximab and SES Versus BMS in AMI

Summary: The purpose of this study is to determine which from the four combinations tirofiban+sirolimus eluting stent (SES), tirofiban+bare metal stent (BMS), abciximab+SES, abciximab+BMS is the possible gold standard treatment for ST-segment elevation myocardial infarction in terms of efficacy and cost-efficacy.

Detailed description: The combination abciximab plus bare metal stent (BMS) is currently considered the standard therapy for AMI. The use of sirolimus eluting stent (SES) is related to a reduction of the need for urgent target vessel revascularization (TVR). With current acquisition prices for abciximab and SES, replacing abciximab with tirofiban, administered as a single high-dose bolus (SHDB) regimen, is a promising strategy that would preserve financial resources. In a recent study the combination tirofiban and SES resulted to be associated to an overall lower major adverse cardiovascular events (MACE) rate with respect to the abciximab plus BMS. However, since no conclusion can be drawn yet regarding the relative contribution of a specific GP IIb/IIIa inhibitor or a stent type with respect to the other, the combination of abciximab and SES may be associated to an even lower event rate with respect to SHDB tirofiban and SES, thus offsetting the higher initial cost.
  Comparison(s): four strategies (SHDB tirofiban + BMS, SHDB tirofiban + SES, abciximab + BMS, abciximab + SES) are compared to determine the possible gold standard treatment for ST-segment elevation myocardial infarction in terms of efficacy and cost-efficacy.

Eligibility: Inclusion Criteria:
  -  ST segment elevation myocardial infarction
  -  Schedule for primary percutaneous coronary intervention
  -  Informed consent
  Exclusion Criteria:
  -  Administration of fibrinolytic or any GP IIb/IIIa inhibitors for the treatment of current acute myocardial infarction or within 1 month before it
  -  History of bleeding diathesis or allergy to the studies drug
  -  Major surgery within 30 days
  -  Limited life expectancy, e.g. neoplasms, others
  -  Pregnancy

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Study Evaluating Rapamune in Patients After Kidney Transplantation

Summary: The purpose of this study is to obtain data on the effectiveness and safety of Rapamune under everyday conditions


Eligibility: Inclusion Criteria:
  -  Patients having received a renal allograft from a cadaveric or living donor with low or moderate risk of developing acute rejection episodes.
  Exclusion Criteria:
  -  Contraindications according to Summary of the Product Characteristics (SmPC).

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Liver Transplantation With ADV-TK Gene Therapy Improves Survival in Patients With Advanced Hepatocellular Carcinoma

Summary: Previous rather poor results in liver transplantation (LT) of patients with advanced hepatocellular carcinoma (HCC) have made the application of LT very limited in treatment of HCC. The advantages of ADV-TK gene therapy highlight its potentiality as adjuvant treatment for HCC patients after LT. We reported here the improved outcome of LT with combined treatment of ADV-TK gene therapy in patients with intermediate or advanced HCC.

Detailed description: The overall survival in the LT with ADV-TK gene therapy group was 54.8 % at three years, and the recurrence-free survival in the same group was 56.5 %, both being higher than those in the transplantation only group (P=0.0001 for overall survival and P=0.0000 for recurrence-free survival). In no-vascular invasion subgroup treated with LT with ADV-TK therapy, both overall survival and recurrence-free survival were 100 %, significantly higher than those with vascular invasion subgroup treated with the combined LT and ADV-TK therapy (P=0 for each group). Vascular invasion was an important factor affected survival and recurrence, hazard ratio=3.687; P=0.014 and hazard ratio=12.961; P=0.000, respectively.

Eligibility: Inclusion Criteria:
  -  Clinical diagnosis of advanced hepatocellular carcinoma with no metastasis in lungs and bones
  -  Accept Liver Transplantation
  Exclusion Criteria:
  -  Small hepatocellular carcinoma
  -  Advanced hepatocellular with metastasis in lungs and bones

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

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

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


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

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Zinc Supplements in Lowering Cadmium Levels in Smokers

Summary: RATIONALE: Zinc supplements may lower cadmium levels in smokers and may help prevent DNA damage.
  PURPOSE: This clinical trial is studying how well zinc supplements work in lowering cadmium levels in smokers.

Detailed description: OBJECTIVES:
  -  Determine whether zinc supplements reduce cadmium levels in smokers.
  -  Measure serum levels of cotinine (a biomarker of smoking), zinc (a marker of compliance), and cadmium (the dependent variable) at 3 pre-supplementation visits and at 6 supplementation visits.
  -  Determine whether serum cadmium levels (adjusted for serum levels of cotinine) decrease during supplementation with VisiVite Smoker's Formula.
  -  Determine if increased cadmium levels in the blood of cigarette smokers can be correlated with decreased mismatch repair.
  -  Determine if administration of zinc-containing supplements reverses cadmium-induced inhibition of mismatch repair.
  OUTLINE: This is an open-label, nonrandomized study.
  Patients receive oral zinc supplements once daily for 12 weeks in the absence of unacceptable toxicity.
  Blood, serum, and urine are collected once weekly for 3 weeks before beginning treatment and in weeks 5, 6, 9, 12, 15, and 17 for biomarker/laboratory analysis. Samples are examined for cadmium, zinc, and cotinine levels by atomic absorption spectrophotometry, expression of mismatch repair proteins (MSH2, MSH6, MSH3, MLH1, and PMS2), levels of messenger RNA by reverse transcriptase-polymerase chain reaction, and microsatellite instability by gel electrophoresis.
  After completion of study therapy, patients are followed for 5 weeks.

Eligibility: DISEASE CHARACTERISTICS:
  -  Currently smoking ≥ 1 pack (20 cigarettes) per day
  -  Baseline cadmium level ≥ 0.5 μg/L
  PATIENT CHARACTERISTICS:
  -  Negative pregnancy test
  -  Fertile patients must use effective contraception
  -  No known gastrointestinal upset due to zinc vitamins or lozenges
  PRIOR CONCURRENT THERAPY:
  -  At least 2 weeks since prior and no other concurrent vitamins and zinc supplements

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Down Syndrome and Continuous Positive Pressure Therapy

Summary: The purpose of this study is to evaluate the efficacy and tolerability of Continuous Positive Pressure for SAOS in Down Syndrome patients.


Eligibility: Inclusion Criteria:
  -  Down Syndrome patients with an Obstructive Sleep Apnea Syndrome
  -  more than 18 years old
  Exclusion Criteria:
  -  predictable non-compliance of device
  -  non-compensated cardiopathy
  -  non-stable thyroxin treatment
  -  non-stable diabetes

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: The Long QT Syndrome in Pregnancy

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

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

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

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Study of Cyclosporine in the Treatment of Dry Eye Syndrome (ST-603-006)

Summary: The purpose of this phase III, open-label study is to determine the safety and tolerability of cyclosporine in the treatment of dry eye syndrome.


Eligibility: Inclusion Criteria:
  -  Diagnosis of dry eye syndrome
  Exclusion Criteria:
  -  Intraocular or refractive surgery in the study eye within 3 months prior to study start
  -  Unwilling to discontinue use of contact lenses during the study
  -  Pregnancy or lactation

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Research Study for Children With a Mother or Sister With Polycystic Ovary Syndrome

Summary: In this study, we want to find out more about polycystic ovary syndrome(PCOS). This is a common problem in about 7% of teenage girls. Problems may include irregular periods, extra hair on the face, chest and back areas. It seems that PCOS is related to a high level of male hormones and to another problem called metabolic syndrome(MBS). People with MBS may have high blood pressure, low good cholesterol, high blood fats and extra fat around the waist. Girls with MBS are at high risk for getting diabetes and heart disease.

Detailed description: Once enrolled in the study, you will have a physical exam done. This includes getting a medical history, height, weight, blood pressure and heart rate. We will also listen to your heart and lungs. We will also look at your skin and determine what stage of puberty you are in by looking at your breast growth and body hair. You will also have two (maybe three) blood tests. The first one is an oral glucose tolerance test (OGTT). During this test, we will have you drink an orange sugary drink and then we will draw your blood. The second test is a frequently sampled intravenous glucose tolerance test (FSIGT). During this test, we will give you insulin through one IV catheter and then we will draw blood from another IV catheter. The third test that you might have done is an ACTH test. During this test, we will draw your blood and then you will be given a dose of cortrosyn (a hormone that your body already makes) and then we will draw your blood again. You will also have two scans of your body done during your visit. There will be a Dual Energy X-Ray Scan (DEXA) and a Magnetic Resonance Imaging Scan (MRI). You will be placed in the machines and then the scanner will move over your body.

Eligibility: Inclusion Criteria:
  -  Relatives with polycystic ovary syndrome
  -  No relatives with polycystic ovary syndrome
  -  Overweight
  -  White non-hispanic girls
  Exclusion Criteria:
  -  Chronic Illness
  -  Smokers
  -  Already having periods

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Registry for Patients With Acquired Resistance to Small Molecule Kinase Inhibitors in Non-Small-Cell Lung Cancer

Summary: The purpose of this study is to try to learn more about how small molecule kinase inhibitors work in treating lung cancer. Some early studies have shown that gefitinib, erlotinib and similar drugs are more likely to work if a particular DNA change (also known as a mutation) is found in a protein that is important in lung cancer. This protein is called the epidermal growth factor receptor (EGFR). Since small molecule kinase inhibitors sometimes stop working, we would like to examine your tumor to learn why these medicines are not working as well. Your tumor will be examined for a variety of things including changes in the DNA of the EGFR. We will also sequence parts of the genes for HER2, HER3, HER4, and KRAS, other proteins thought to be important in lung cancer.

Detailed description: The goal of this protocol is to determine mechanisms of resistance to epidermal growth factor (EGFR) tyrosine kinase inhibitors (EGFR-TKI) in non-small cell lung cancer (NSCLC). A number of trials have shown small molecule kinase inhibitors to be active agents in the treatment of NSCLC [1]. Clinically these drugs have been noted to produce dramatic but infrequent responses. Mutations in the epidermal growth factor receptor have been shown to correlate with sensitivity to gefitinib and erlotinib[2,3]. However, we know that most patients who have initial responses to EGFR-TKI eventually progress. The mechanism of acquired clinical resistance to these inhibitors in patients incompletely understood.
  This is a protocol to study clinical characteristics and biopsy tissue of patients with non-small cell lung cancer who have had previous clinical response to small molecule kinase inhibitors and subsequently experience progression of disease. The tissues and other specimens will be used to carry out laboratory studies to explore the molecular basis of sensitivity and resistance to small molecule kinase inhibitors.

Eligibility: Inclusion Criteria:
  Patients diagnosed with unresectable or metastatic non-small cell lung cancer (NSCLC) and who fulfill the following eligibility criteria will be considered eligible for this study.
  -  Patient must have previously received treatment with small molecule kinase inhibitors targeting at least, in part, EGFR patients may have received other treatments since treatment with small molecule kinase inhibitors including radiation or chemotherapy)
  -  Development of disease progression while actively receiving tyrosine kinase inhibitor
  -  Signed informed consent
  Exclusion Criteria:
  -  None

Relevance to patient case: not relevant