araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Carcinogenicity Study of Bupropion

Summary: There is a lack of toxicology data on one bupropion metabolite, and limited literature examining bupropion use and cancer risk. This study evaluates the association between bupropion exposure and the development of cancer of the prostate, breast, lung, colon/rectum, urinary bladder, and uterus by comparing the risk of cancer in bupropion users with other antidepressant users. Because there is no evidence that bupropion is associated with any particular cancer, we have chosen the six most common cancers diagnosed in the United States to optimize statistical power/precision for cancer-site specific comparisons. Two US population-based data resources with automated claims, pharmacy, and tumor registry data are included in this study. Using a nested case-control design, this study will compare the incidence of cancer in patients exposed to bupropion with the incidence in patients exposed to other antidepressants.

Detailed description: Patients were not recruited for nor enrolled in this study. This study is a retrospective observational study. Data from medical records or insurance claims databases are anonymised and used to develop a patient cohort. All diagnoses and treatment are recorded in the course of routine medical practice.

Eligibility: Inclusion Criteria:
  -
  Exclusion Criteria:
  -  Cancers diagnosed within 12 months of initiation (i.e., new use) of antidepressant pharmacotherapy will be excluded to account for a minimum period for the development of cancer (cancer latency) and to be consistent with other studies of antidepressants and cancer.
  -  Patients with a history of any cancer (cancer diagnosis recorded in the tumor registries anytime before the first antidepressant prescription recorded during the study period)
  -  Any antidepressant use within 6 months of January 1, 1996

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease

Summary: The term MYH9-related disease (MYH9RD) includes four genetic disorders: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome. All these disorders derive from mutation of a unique gene, named MYH9, and they have been recognized as different clinical presentations of a single illness that was named MYH9RD. All patients affected by MYH9RD present since birth with thrombocytopenia, which can result in a variable degree of bleeding diathesis; some of them subsequently develop additional clinical manifestations, such as renal damage, sensorineural hearing loss, and/or presenile cataracts. Eltrombopag is an oral thrombopoietin receptor agonist that stimulates proliferation and differentiation of megakaryocytes, the bone marrow cells that produce blood platelets. This drug is effective in increasing platelet count in healthy volunteers, as well as in patients affected by some acquired thrombocytopenias, such as idiopathic thrombocytopenic purpura and HCV related thrombocytopenia. The purpose of this study is to determine if eltrombopag, administered orally at the dose of 50 or 75 mg/daily for up to 6 weeks, is effective in increasing platelet count of patients affected by MYH9RD. Further aims of this study are to test if eltrombopag is effective in reducing bleeding tendency of MYH9RD patients; to evaluate safety and tolerability of eltrombopag in patients with MYH9RD; to evaluate in vitro function of platelets produced during therapy in patients responding to this drug.


Eligibility: Inclusion Criteria:
  -  Age 16 years or more
  -  Confirmed diagnosis of MYH9-related disease
  -  Average platelet count for the previous year less than 50x10e9/L
  -  Written informed consent
  Exclusion Criteria:
  -  Diseases known to involve the risk of thromboembolic events (e.g. atrial fibrillation)
  -  History of thrombosis within 1 year
  -  Use of drugs that affect platelet function (including but not limited to, aspirin, clopidogrel or NSAIDS) or anti-coagulants
  -  Females who are pregnant or nursing (a negative pregnancy test in required before enrollment of fertile women)
  -  Formal refusal of any recommendation of a safe contraception
  -  Alcohol or drug addiction
  -  Altered renal function as defined by creatinine of 20 mg/L or more
  -  Any other disease or condition that by the advise of the responsible physician would make the treatment dangerous for the patient or would make the patient ineligible for the study, including physical, psychiatric, social and behavioral problems. HCV positivity and liver diseases will not be considered an exclusion criterion since a phase II study showed that eltrombopag was effective and safe in this patient population.

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Comparison Study of Narrow Band Imaging Versus White Light Resection in Patients With Bladder Tumors/Cancer

Summary: The purpose of this study is to compare the recurrence rate at 1 year following Narrow Band Imaging and trans-urethral resection of bladder tumor with White Light and TURB in patients with non-muscle invasive bladder cancer.

Detailed description: Currently bladder tumors are diagnosed visually with standard cystoscopy that uses white light, or light that is generated encompassing the entire visual spectrum. Some tumors such as carcinoma in situ may not be visible using white light and require patients to undergo random bladder biopsies in order to find the cancer. Recently the development of photodynamic agents have been shown to enhance these procedures to accomplish better resection and identify over-looked tumors. However, these methods often require the instillation of dyes into the bladder as well as specialized cystoscopes. Narrow band imaging (NBI) is now available which uses a special filter to limit the light to only certain wavelengths which allows the identification of areas of increased vascularity or abnormalities without the need for dyes. NBI has been investigated in gastro-intestinal disease and found to be beneficial. Early reports in urology suggest that this technology may reduce the number of tumors that are missed which could impact the recurrence rate of bladder tumors, but this is not known at this time.

Eligibility: Inclusion Criteria:
  -  Patients scheduled for treatment of primary or recurrent non-muscle invasive bladder cancer
  -  Patients greater than 18 years of age
  -  No tumors in the upper tract (kidneys or ureters)
  -  No previous pelvic radiation
  Exclusion Criteria:
  -  Gross hematuria at the time of resection making visualization with NBI not possible
  -  Participation in other clinical studies with investigations drugs concurrently or within 30 days.
  -  Pregnancy
  -  Conditions associated with a risk of poor compliance or unwilling to follow up

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Tumorspecific T-cell Immunity in Bladder Cancer as Prognostic Marker

Summary: Bladder cancer is generally susceptible to immunotherapeutic measures. The investigators will characterize 40 patients with muscle-invasive bladder cancer regarding the existence and frequency of tumorspecific T-cells and regulatory T cells. The found data will be correlated to clinical data such as the cancer-specific survival and the response to chemotherapy.
  It is hypothesized that those patients with a high number of Tregs and no tumor-specific T-cells have a worse prognosis.


Eligibility: Inclusion Criteria:
  -  Histologically confirmed muscle-invasive urothelial carcinoma
  -  Age > 18 years
  -  Hemoglobin > 10g/dl
  -  Signed Informed Consent
  -  Karnofsky index < 70%
  Exclusion Criteria:
  -  Clinically relevant second malignancy
  -  Severe comorbidities (e.g. NYHA III, end-stage renal disease)
  -  Chronic infectious disease (HIV, Tuberculosis)
  -  Immunosupression
  -  Severe psychiatric diseases
  -  Blood donation in the last 4 weeks

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Assessing BAY86-9766 Plus Sorafenib for the Treatment of Liver Cancer.

Summary: This study investigates the safety and efficacy of the combination therapy with BAY86-9766 and sorafenib in patients with liver cancer. Safety will be determined by laboratory and other evaluations. Efficacy of the combination BAY86-9766 and sorafenib will be determined by disease control rate, overall survival, time to progression, response rate and duration of response.


Eligibility: Inclusion Criteria:
  -  Male or Female age >/= 18 years of age
  -  Life expectancy >/= 12 weeks
  -  Histologically or cytologically confirmed diagnosis of HCC, unresectable advanced or metastatic
  -  Liver function status of Child-Pugh class A. Child-Pugh status based on clinical findings and laboratory results during the screening period
  -  Eastern Cooperative Oncology Group performance status (ECOG PS) of 0 or 1
  -  Patients must have at least one naïve (not previously treated by locoregional therapy) uni-dimensional measurable lesion by CT or MRI according to RECIST 1.1
  -  Adequate bone marrow, liver and renal function
  Exclusion Criteria:
  -  Previous or concurrent cancer other than HCC, except for cervical carcinoma in situ, basal cell carcinoma, superficial bladder tumors.
  -  History of cardiac disease: Congestive heart failure (CHF), unstable angina, arrhythmias, Uncontrolled hypertension
  -  Clinically significant GI bleeding (CTCAE grade 3 or higher) within 30 days
  -  Renal failure requiring hemo- or peritoneal dialysis
  -  Known human immunodeficiency virus (HIV) infection
  -  Known history or symptomatic metastatic brain or meningeal tumors
  -  History of organ allograft.
  -  History of interstitial lung disease (ILD).
  -  Excluded previous therapies and medications:
  -  Prior use of systemic anti-cancer treatment for HCC including cytotoxic chemotherapy, targeted agents, or any experimental therapy
  -  Radiotherapy within 4 weeks prior to start of study treatment
  -  Any other investigational agents within 4 weeks from the first dose of study treatment
  -  Major surgery within 4 weeks of start of study
  -  Concomitant use of strong inhibitors and strong inducers of CYP3A4

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Study to Evaluate NVC-422 for Urinary Catheter Blockage and Encrustation

Summary: NVC-422 is a topical, non-antibiotic, fast-acting, broad-spectrum anti-microbial, which exhibits the potential to prevent the growth of urinary pathogens, including Proteus and others.
  The use of a catheter irrigation solution that can prevent biofilm formation and encrustation leading to blockage may keep the catheter patent longer, resulting in fewer catheter changes, potentially lower incidence of UTIs, and better patient quality of life.
  The study population will include male and female spinal cord injury (SCI) and other neurogenic bladder patients with chronic indwelling transurethral urinary catheters who have a recent repeated history of urinary catheter encrustation and/or blockage.
  Subjects will receive two treatment regimens: one treatment regimen with NVC-422 sterile irrigation solution and one treatment regimen with sterile saline irrigation solution. Each treatment regimen will consist of a total of 8 treatments, with a washout period between treatment regimens.


Eligibility: Inclusion Criteria:
  -  Spinal Cord Injury (SCI) or other neurogenic bladder patient requiring a chronic indwelling urinary catheter with history of catheter blockage and/or encrustation
  -  Screening within 30 days of first treatment
  Exclusion Criteria:
  -  Systemic antibiotics within 7 days of first treatment
  -  Investigational drug or device within 30 days of enrollment
  -  Current infection that requires treatment with systemic antibiotics
  -  Recent history of significant autonomic dysreflexia (requiring intervention or treatment)

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Study of AUY922 and Cetuximab in Patients With KRAS Wild-Type Metastatic Colorectal Cancer

Summary: The study will determine the maximum tolerated dose (MTD) of AUY922 given in combination with cetuximab in previously treated patients with KRAS wild-type metastatic colorectal cancer.


Eligibility: Inclusion Criteria:
  -  Histologically or cytologically confirmed colorectal cancer
  -  KRAS wild type metastatic colorectal cancer
  -  Progression of disease on at least 2 prior therapy to have included 5FU, or oxaliplatin or bevacizumab or irinotecan
  -  Prior treatment with cetuximab is allowed (full dose tolerated), provided that the patient never required a dose reduction due to toxicities
  -  Must have at least one measurable lesion
  -  Must be 18 years of age or older
  -  ECOG performance status 0-1
  -  Life expectancy must be greater than 12 weeks
  -  For women of childbearing potential, a negative pregnancy blood test must be obtained less than 3 days prior to the first AUY922 infusion
  Exclusion Criteria:
  -  Colorectal cancer with a KRAS mutation or in which the KRAS genotype status is unknown
  -  Metastasis to the CNS
  -  Prior treatment with any Hsp90 inhibitor compounds
  -  Patients who received systemic anti-cancer treatment prior to the first dose of AUY922 within the following time frames:
  -  Radiotherapy, conventional chemotherapy: within 2 weeks
  -  Palliative radiotherapy: within 2 weeks
  -  Nitrosoureas, monoclonal antibodies, such as trastuzumab and mitomycin: within 6 weeks
  -  Any continuous-dosing (i.e. daily dosing, every-other-day dosing, Monday-Wednesday-Friday dosing, weekly etc.) of systemic anti-cancer treatment for which the recover period is not known, or investigational drugs (i.e. targeted agents) within a duration of ≤ 5 half lives of the agent and their active metabolites (if any)
  -  Treatment of therapeutic doses of coumadin-type anticoagulants. [Maximum daily dose of 2mg, for line patency permitted]
  -  Known sensitivity to cetuximab
  -  Unresolved ≥ grade 1 diarrhea
  -  Malignant ascites that require invasive treatment
  -  Concurrent medications that are substrates, inhibitors or inducers of CYP3A4, CYP2C8, CYP2C9 and CYP2C19 and cannot be switched or discontinued or switched to an alternative drug prior to commencing AUY922 dosing need special consideration on a case by case basis
  -  Major surgery ≤ 2 weeks prior to randomization or who have not recovered from such therapy
  -  Impaired cardiac function

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Sonographic Measurement of Bladder Wall Thickness in Patients With Neurogenic Bladder Dysfunction

Summary: Video-urodynamic investigations are regarded as the current standard diagnostics for neurogenic bladder dysfunction in patients with spinal cord injury. This examination is exact, but time consuming, costly and associated with the risk of urinary tract infection.
  In patients with lower urinary tract symptoms due to benign prostate hyperplasia, sonographic measurement of bladder wall thickness has been demonstrated to be able to replace urodynamic testing for the diagnosis of infravesical obstruction.
  Hypothesis: measurement of bladder wall thickness in patients with neurogenic bladder dysfunction due to spinal cord injury is closely related to the known risk factors for upper urinary tract deterioration (bladder compliance, detrusor leak point pressure) in this group of patients and can therefore replace urodynamic examination in selected cases.


Eligibility: Inclusion Criteria:
  -  neurogenic bladder dysfunction due to spinal cord injury
  -  ability to understand German language
  -  willingness and capability to undergo urodynamic testing
  -  age > or = 18 years
  Exclusion Criteria:
  -  acute urinary infection at the time of examination
  -  known bladder tumor or bladder stone
  -  age < 18 years
  -  not capable to understand aim and purpose of the examination

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Safety, Pharmacokinetics and Pharmacodynamics of BEZ235 Plus MEK162 in Selected Advanced Solid Tumor Patients

Summary: This is an open label, dose finding, phase Ib clinical trial to determine the maximum tolerated dose (MTD) and/or RP2D of the orally administered PI3K/mTOR inhibitor BEZ235 in combination with the MEK1/2 inhibitor MEK162. This combination will be explored in patients with EGFR mutant NSCLC which has progressed on EGFR inhibitors and triple negative breast cancer, as well as pancreatic cancer, colorectal cancer, malignant melanoma, NSCLC, and other advanced solid tumors with KRAS, NRAS, and/or BRAF mutations. Dose escalation will be guided by a Bayesian logistic regression model with overdose control. At MTD or RP2D, two expansion arms will be opened in order to further assess safety and preliminary anti-tumor activity of the combination of BEZ235 and MEK162.
  Study drugs will be administered orally on a continuous schedule, MEK162 bid and BEZ235 qd, a treatment cycle is defined as 28 days.


Eligibility: Inclusion Criteria:
  -  histologically/cytologically confirmed, advanced non resectable solid tumors
  -  Measurable or non-measurable, but evaluable disease as determined by RECIST 1.0
  Exclusion Criteria:
  -  Patients with primary CNS tumor or CNS tumor involvement
  -  Diabetes mellitus - Unacceptable ocular/retinal conditions
  Other protocol-defined inclusion/exclusion criteria may apply

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

Summary: Background:
  - The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or your family.
  Objective:
  -To allow for exomic or genomic sequencing of NICHD patients or family members in order to identify changes in genes that cause or contribute to a specific disease.
  Eligibility:
  -  Children who are enrolled in an NICHD clinical study where the condition being studied may have a genetic cause.
  -  Family members of a child who is eligible for this study.
  Design:
  -  Children and family members will supply DNA samples. If the samples are already available, no further DNA will be needed.
  -  If DNA is not available, samples of either blood or skin will be taken.
  -  We will use these samples with new DNA sequencing technology that looks at all the human genes we know about. This is known as exome and genome sequencing.

Detailed description: Over the last few years advancements in DNA sequencing technology have progressed significantly. It now is feasible and economical to sequence the exome (known genes) or the entire genome. This technological advance can be applied to identifying genetic causes of rare diseases where traditional methods such as mapping frequently failed due to insufficient number of cases. These cases often present themselves in the context of other NICHD research protocols, such as teaching protocols, where it would not be efficient for the individual investigators to write a new protocol. It will also serve to standardize the consent document across NICHD for investigators that do not include exomic/genomic sequencing in their own protocol.

Eligibility: -  INCLUSION CRITERIA:
  1. Proband s that are enrolled in an NICHD clinical protocol for which there is a suspicion of an underlying genetic cause for a disease for which they are being evaluated.
  2. Family members of a proband who is eligible for this protocol.
  EXCLUSION CRITERIA:
  1. Normal volunteers unrelated to a proband with the disease of interest.

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: A Phase II Study to Evaluate the Efficacy of TKI258 for the Treatment of Patients With FGFR2 Mutated or Wild-type Advanced and/or Metastatic Endometrial Cancer

Summary: This is a prospective, multi-center, open-label, single-arm, non-randomized, Phase II study to evaluate the efficacy and safety of TKI258 as second-line therapy in patients with either FGFR2 mutated or wild-type advanced and/or metastatic endometrial cancer.


Eligibility: Inclusion Criteria:
  -  Patients with histologically confirmed diagnosis of advanced and/or metastatic endometrial cancer with available tissue specimen (either archival tissue or fixed fresh biopsy)
  -  Female patients ≥ 18 years old
  -  Documented radiologically confirmed progression of disease after prior first-line treatment evidence of progressive disease
  -  ECOG (Eastern Cooperative Oncology Group) performance status ≤ 2
  -  At least one measurable lesion as per RECIST
  Exclusion Criteria:
  -  Previous treatment with an FGFR inhibitor
  -  More than one line of treatment for advanced or metastatic disease
  -  Patients with uterine sarcomas, adenosarcoma, and malignant Mullerian tumors
  -  Patients with isolated recurrences (vaginal, pelvic, or para-aortic) potentially curative with radiation therapy or surgery
  -  Known central nervous system (CNS) metastases
  -  Malignancy within 3 years of study enrollment Other protocol-defined inclusion/exclusion criteria may apply

Relevance to patient case: not relevant
Patient case: 64-year-old male with bladder cancer; genetic feature: FGFR3 (S249C)

Clinical trial: Phase 1b/2 Study of Retaspimycin HCl (IPI-504) in Combination With Everolimus in KRAS Mutant Non-small Cell Lung Cancer

Summary: Study IPI-504-15 is a Phase 1b/2 clinical trial to evaluate the safety and efficacy of retaspimycin HCl (IPI-504) plus everolimus in patients with KRAS mutant Non-small Cell Lung Cancer (NSCLC).

Detailed description: This is a Phase Ib/2 study of retaspimycin HCl (IPI-504) in combination with everolimus. The Phase 1b portion is to test the safety and tolerability of retaspimycin HCl (IPI-504) in combination with everolimus and determine the highest dose of retaspimycin HCl (IPI-504) and everolimus that can safely be given in combination. The Phase 2 portion of this study will continue the evaluation of safety of retaspimycin HCl (IPI-504) in combination with everolimus and compare the effect of the study drugs on tumor response and life expectancy in patients with KRAS mutant NSCLC.

Eligibility: Inclusion Criteria:
  1. ≥18 years of age
  2. Voluntarily sign an informed consent form (ICF).
  3. Pathological diagnosis of KRAS mutation positive NSCLC - Stage IIIB or IV
  4. Archival NSCLC tissue available to provide for analysis or have a lesion that is accessible for biopsy
  5. Experienced disease progression during or after receiving at least 1 prior platinum-containing chemotherapy regimen.
  6. ECOG performance of 0-1.
  Exclusion Criteria:
  1. Prior treatment with IPI-504 or other Hsp90 inhibitors.
  2. Prior treatment with everolimus, other rapamycin analogs, AP23573(Ridaforolimus), rapamycin, or other mTOR inhibitors.
  3. Has not recovered from any toxicities related to prior treatment (to Grade 1 or baseline), excluding alopecia.
  4. Inadequate hematologic function defined as:
  5. Inadequate hepatic function defined by:
  6. Inadequate renal function defined by serum creatinine >1.5 x ULN.

Relevance to patient case: not relevant