araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Evaluation of Volatile Induction and Maintenance Anesthesia (VIMA) With Sevorane in Adult Patients Requiring General Anesthesia for Surgery in Terms of Quality of Anesthesia and Its Influence on the Cardiovascular System in Common Clinical Practice

Summary: The main objective of this post-marketing observational study (PMOS) is to collect data of using general anesthesia in patients undergoing any surgery to create local recommendations. These data will be based on the evaluation of volatile induction and maintenance anesthesia (VIMA) with Sevorane® (sevoflurane) in adult patients requiring general anesthesia for surgery in terms of quality of anesthesia and its influence on the cardiovascular system in common clinical practice in Ukraine.

Detailed description: This PMOS will be conducted in a prospective, multi-centre format. It is a non-interventional, observational study in which Sevorane is prescribed for adult patients undergoing general surgery for induction and maintenance of anesthesia in the usual manner in accordance with the terms of the local marketing authorization. Sevorane is used for induction and maintenance anesthesia by the choice of anesthesiologist. No additional procedures (other than standard of care) shall be applied to the patients. Each patient will be observed from the starting of anesthesia till the anesthesia end. Markers of myocardial ischemia will be detected up to the first 24 hours after anesthesia (if available). Additionally the correlation between the experience and training background of anesthesiologists and patient related outcomes of general anesthesia with sevoflurane as a single anesthetic will be assessed.

Eligibility: Inclusion Criteria:
  -  Patients needing general anesthesia for planned or urgent surgery for whom Sevorane is used for induction and maintenance anesthesia by the choice of anesthesiologist
  Exclusion Criteria:
  -  Known sensitivity to sevoflurane or other anesthetic containing halogen
  -  Known or suspected genetic susceptibility to malignant hyperthermia
  -  Receiving regional anesthetic techniques
  -  Receiving intravenous anesthesia
  -  A history of unexplained moderate/severe hepatic dysfunction with jaundice, fever, and/or eosinophilia in association with halogenated anesthetics

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Evaluation of Volatile Induction and Maintenance Anesthesia (VIMA) With Sevorane in Adult Patients Required General Anesthesia for Surgery in Terms of Quality of Anesthesia and Its Influence on Cardiovascular System in Common Clinical Practice

Summary: The main objective of this post-marketing observational study is to collect data from the use of general anesthesia in patients undergoing any surgery to create local recommendations. These data will be based on the evaluation of volatile induction and maintenance anesthesia (VIMA) with Sevorane® (sevoflurane) in adult patients requiring general anesthesia for surgery in terms of quality of anesthesia and its influence on cardiovascular system in common clinical practice in Kazakhstan.

Detailed description: This post-marketing observational study will be conducted in a prospective, multi-centre format. It is a non-interventional, observational study in which Sevorane is prescribed for adult patients undergoing general surgery for induction and maintenance of anesthesia in the usual manner in accordance with the terms of the local marketing authorization. Sevorane is used for induction and maintenance anesthesia by the choice of anesthesiologist. No additional procedures (other than standard of care) shall be applied to the patients. Each patient will be observed from the start of anesthesia through anesthesia end. Markers of myocardial ischemia will be detected up to the first 24 hours after anesthesia (if available). Additionally the correlation between the experience and training background of anesthesiologists and patient related outcomes of general anesthesia with Sevorane as a single anesthetic will be assessed.

Eligibility: Inclusion Criteria:
  -  Patients needing general anesthesia for planned or urgent surgery for whom Sevorane is used for induction and maintenance anesthesia by the choice of anesthesiologist
  -  Age greater than or equal to 18 years
  Exclusion Criteria:
  -  Known sensitivity to sevoflurane or other anesthetic containing halogen
  -  Known or suspected genetic susceptibility to malignant hyperthermia
  -  Receiving regional anesthetic techniques
  -  Receiving intravenous anesthesia
  -  A history of unexplained moderate/severe hepatic dysfunction with jaundice, fever, and/or eosinophilia in association with halogenated anesthetics

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

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: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Video-assisted Hyperthermic Pleural Chemoperfusion vs Talc Pleurodesis for Refractory Malignant Pleural Effusions.

Summary: Aim of this study is to compare two methods of pleurodesis for refractory malignant pleural effusions, in terms of safety and efficacy.

Detailed description: The study compares prospectively two groups of patients with refractory maignant pleural effusion. Group A consists of patients undergoing video-assisted hyperthermic pleural chemoperfusion (with a pump machine) and group B includes patients undergoing bed-side tube thoracostomy and talc slurry pleurodesis.

Eligibility: Inclusion Criteria:
  -  Recurrent symptomatic malignant pleural effusion
  -  No prior intrapleural therapy
  -  Abscence of bronchial obstruction or fibrosis preventing lung reexpansion
  -  No systemic chemotherapy immediately prior to or during the first 30-day interval following pleurodesis
  Exclusion Criteria:
  -  Poor Karnofsky Performance Status

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: BN80927 in Patients With Advanced Malignant Solid Tumors

Summary: The purpose of this study was to determine the maximum tolerated dose and the recommended dose of BN80927 in patients with advanced malignant solid tumors.


Eligibility: Inclusion Criteria:
  All included patients:
  -  Gave their written (personally signed and dated) informed consent
  -  had histologically or cytologically documented malignant solid tumour
  -  had received no more than three prior chemotherapy regimens
  -  had failed the standard therapy or had no option of an active standard therapy
  -  had an estimated survival time of greater than 3 months (according to the investigator's assessment)
  -  had a World Health Organisation (WHO) performance status score ≤1
  -  were free from other serious concurrent disease
  -  had adequate bone marrow function
  -  had adequate liver function
  -  had adequate renal function
  -  who were female and of child-bearing potential must have had a negative result in a pre-study pregnancy test β-human-chorionic-gonadotrophin (β-HCG).
  Exclusion Criteria:
  No patient included:
  -  was pregnant or lactating
  -  was unable and/or unwilling to comply fully with the protocol and the study instructions;
  -  presented with any concomitant condition, which could compromise the objectives of the study
  -  had received an investigational drug within 30 days prior to study entry or was scheduled to require concurrent treatment with an experimental drug or treatment during the study
  -  had received chemotherapy or hormonotherapy within 4 weeks of study entry, or had received chemotherapy with nitrosoureas or mitomycin-C within 6 weeks of study entry
  -  had received any extensive palliative or curative radiotherapy (no more than 35% of their active bone marrow) within 2 weeks of study entry, or had not fully recovered from such treatment
  -  had previously received a bone marrow transplant (BMT) or peripheral blood progenitor cells (PBPC)
  -  had clinical evidence of major organ failure or brain metastases.

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Imaging Malignant Glioma With 68Ga-DOTATOC PET/CT

Summary: The purpose of this study is to characterize tumour uptake of somatostatin analog 68Ga-DOTATOC in patients with either primary or recurrent malignant glioma. The investigators hypothesis is that some primary and recurrent malignant gliomas overexpress SST2 receptor which can be imaged with 68Ga-DOTATOC PET/CT. The investigators also hypothesize that tumor uptake of 68Ga-DOTATOC correlates with immunohistochemically determined SST2 receptor status of the tumor specimen.


Eligibility: Inclusion Criteria:
  -  Age: 18 to 70 years old
  -  Language spoken: Finnish or Swedish
  -  Performance status: Karnofsky score 70 or better or WHO performance status 2 or better
  -  Supratentorial malignant glioma based on MRI imaging
  -  Supratentorial recurrent glioma based on MRI and/or [11C]methionine PET imaging
  -  Patients must be able to understand the meaning of the study and sign the appropriate Ethical Committee approved informed consent documents in the presence of the designated staff
  Exclusion Criteria:
  -  Any medical or psychiatric condition that compromises the subject´s ability to participate in the study
  -  Any other significant disease including liver or renal disease
  -  Pregnant or lactating women

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Lung Ultrasound to Diagnose Transient Tachypnea of the Newborn (TTN) Versus Respiratory Distress Syndrome (RDS) in Neonates

Summary: The investigators hypothesize that ultrasonography of the newborn lung can be used as an effective diagnostic tool in neonates ≥ 28 weeks gestation with early symptoms of respiratory distress.

Detailed description: Respiratory distress is a common reason for admission to the neonatal intensive care unit (NICU) for both preterm and full term newborns. TTN and RDS are the two most common diagnoses associated with respiratory distress. Due to their similar clinical presentations, it is often difficult to differentiate the two diseases clinically. Currently chest radiography is used to differentiate between TTN and RDS, however, radiographic findings are not always definitively diagnostic.
  In preliminary studies, lung ultrasonography has been shown to be a useful tool in diagnosing both TTN and RDS. However, no one has looked at the use of lung ultrasonography in differentiating TTN from RDS in the neonatal population. We propose to do so in this study.
  Patients will be enrolled from neonatal admissions to the NICU with respiratory distress. Lung ultrasound will be performed on all enrolled subjects, looking for specific findings suggestive of either TTN or RDS. Data will be collected on gestational age, physical exam findings and level of respiratory support. Diagnoses will be recorded based on ultrasound findings. Accuracy of lung ultrasound diagnosis will be compared to that using radiographic chest radiography findings to evaluate if lung ultrasound is equivalent, or better than chest radiography in order to diagnose TTN versus RDS in this patient population.

Eligibility: Inclusion Criteria:
  -  gestational age ≥ 28 weeks
  -  symptoms of respiratory distress defined as:
  -  tachypnea (respiratory rate > 60 breaths per minute)
  -  FiO2 requirement >21%
  -  intercostal/subcostal retractions
  -  grunting and/or nasal flaring
  -  If clinically warranted, a chest x-ray will be done as part of the workup for respiratory distress; these patients with CXR will be included in the study.
  -  Inclusion criteria for the control group will be gestational age ≥ 28 weeks with no symptoms of respiratory distress (defined above).
  Exclusion Criteria:
  -  neonates with prenatally diagnosed structural cardiac disease
  -  major multiple congenital anomalies
  -  other causes of respiratory distress that are not RDS or TTN (e.g. pneumothorax, CCAM or pneumonia).

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Safety Study of 3 mg/mL Baclofen Injection (Intrathecal) Using A Programmable Pump

Summary: Safety study to assess the 3 mg/mL baclofen injection (intrathecal) using a programmable pump

Detailed description: This is a prospective 36-month Phase IIIb/IV clinical safety trial that will be conducted at clinical trial sites that are experienced with the use of intrathecal baclofen. All patients will be entered after signing an IRB approved informed consent. Patients will be followed for the duration of their treatment with Gablofen® (baclofen injection) 3 mg/mL using the SynchroMed® II Programmable Pump or until the study is terminated. Patients will be evaluated for clinical complications associated with the use of intrathecal baclofen that are considered signs and symptoms of an inflammatory granuloma, specifically new radicular pain at the level of the catheter tip, and/or spinal cord compression. An MRI scan with and without infusion will be performed (with consent of the patient) to evaluate the potential presence of an inflammatory granuloma if clinical signs exist. Events that may be related to an inflammatory granuloma will be classified as a definite granuloma, possible granuloma, other catheter related problem (confirmed not caused by a granuloma), or other clinical sequelae caused by the underlying disease or other infusion system related event.

Eligibility: Inclusion Criteria:
  -  4 years of age or older
  -  Subjects must be clinically diagnosed with sever spasticity and be receiving intrathecal baclofen
  -  Subjects must have a SynchroMed® II Pump already implanted
  -  Current treatment with intrathecal baclofen should be at the 2 mg/mL concentration
  -  Life expectancy greater than or equal to 12 months
  -  Signed written informed consent
  -  Ability and willingness to comply with the study protocol for the duration of the study and with follow-up procedures
  Exclusion Criteria:
  -  History or presence of malignancy, with the exception of adequately treated localized skin cancer (basal cell or squamous cell carcinoma) or carcinoma in-situ of the cervix, which is allowed
  -  History of any allergic reaction to baclofen
  -  History of inflammatory granulomas with an intrathecal infusion pump
  -  Any previous history of neuroleptic malignant syndrome or malignant hyperthermia
  -  As a result of medical review and physical examination, the Investigator considers the subject unfit for the study

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Nivestim® (Filgrastim) Tolerance in Patients Treated by Toxic Chemotherapeutic Agents

Summary: The main aim of the study is to assess the safety of Nivestim® treatment in patients treated with neutropenia-inducing chemotherapy for a malignant disease, solid tumor or a malignant hemopathy.


Eligibility: Inclusion Criteria:
  -  Age ≥ 18 years
  -  Patients presenting with a solid tumor or a malignant hemopathy,
  -  Patients treated with or beginning treatment with neutropenia-inducing chemotherapy (regardless of the cycle),
  -  Patients in whom treatment with Nivestim® is instituted for the purpose of reducing the duration of the neutropenias and the incidence of the chemotherapy-induced febrile neutropenias
  Exclusion Criteria:
  -  Patients presenting with a chronic myeloproliferative syndrome,
  -  Patients presenting with a myelodysplastic syndrome,
  -  Patients showing hypersensitivity to any of the ingredients of Nivestim®,
  -  Patients not receiving chemotherapy,
  -  Patients who were already included in the study during a previous chemotherapy line

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Phase II Study of S-488410 to Treat Non-small Cell Lung Cancer

Summary: The investigators identified three cancer-testis antigens, as targets for cancer vaccination against lung cancer. In this clinical study, the investigators examine using a combination of three peptides from these three antigens (S-488410) the safety, immunogenicity, and antitumor effect of vaccine treatment for advanced non-small cell lung cancer patients.

Detailed description: The purpose of this study is to evaluate the clinical efficacy and safety of S-488410 for advanced non-small cell lung cancers who failed to standard therapy.
  The investigators previously identified three novel HLA-A*2402-restricted epitope peptides, which were derived from three cancer-testis antigens, as targets for cancer vaccination against lung cancer. In this phase II trial, we examine using a combination of these three 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:
  -  Advanced NSCLC that cannot undergo curative surgery.
  -  Patients that are refractory to standard chemotherapy or cannot be treated with further therapy due to severe adverse effects of chemotherapy.
  -  Histologically diagnosed NSCLC.
  -  Clinical efficacy can be evaluated by radiologic methods within 4 weeks prior to receiving treatment.
  -  ECOG performance status 0-2 within 2 weeks prior to receiving treatment.
  -  Life expectancy > 3 months.
  -  Age between 20 to 79
  -  Male or Female.
  -  In patients or out patients.
  -  Able and willing to give valid written informed consent.
  Exclusion Criteria:
  -  Other malignancy requiring treatment
  -  radiation, immunotherapy, hyperthermia, or surgery.
  -  Active and uncontrolled infectious disease
  -  Active and uncontrolled hepatic dysfunction, kidney dysfunction, cardiac disease, or lung disease (i.e. interstitial pneumonia).
  -  Autoimmune disease.
  -  HIV-Ab or antigen positive
  -  Prior anti-cancer therapy within 4 weeks
  -  Laboratory values as follows: 2000<mm3 < WBC < 15000/mm3, Platelet count < 50000/mm3, Asparate transaminase > 5 X cutoff value, Alanine transaminase > 5 X cutoff value, Total bilirubin > 3 X cutoff value, and Serum creatinine > 3X cutoff value.
  -  Patients knows HLA-A type.
  -  Breastfeeding and Pregnancy (woman of child bearing potential)
  -  Refusal of pregnancy conception.
  -  Treated with S-488401, S-488402, or S-488403.
  -  Treated with other investigational drug within 3 months prior to receiving S-48810 treatment.
  -  Decision of nonenrollment of the patients by principal investigator or physician-in-charge from the view point of patient's safety.

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Effectiveness of Carbon Filters to Reduce the Anesthetic Gas Concentration in an Anesthetized Patient

Summary: Malignant hyperthermia is a potentially fatal inherited disorder triggered by exposure to volatile anesthetic gases, most commonly recognized in children during anesthesia. Carbon filters have been used to scavenge various gases. A new carbon filter (Vapor Clean, Dynasthetics, LLC, Salt Lake City, Utah) with a 510(k) clearance specifically for scavenging anesthetic gases is being marketed, though the filter itself has never been studied in vivo. Bench studies conducted by the manufacturer of the product demonstrate it is extremely effective in reducing the volatile gas output from an anesthesia machine within 2 minutes. This pilot study will measure the effect on volatile gas concentration in non-malignant hyperthermia susceptible patients. Twelve (12) patients will undergo standard anesthetic induction using inhalational anesthetic (Sevoflurane®) and maintained on 3% for 30 minutes to attain steady state concentrations.1 At that time, a total intravenous anesthetic technique will be started and maintained throughout the case. Simultaneously a Vapor Clean filterset will be placed in the breathing circuit (inspiratory and expiratory limbs). Volatile gas concentration will be measured and recorded. This research will determine the feasibility of using this carbon filter to quickly reduce the breathing circuit gas concentration of volatile anesthetic in the clinical setting. This is fundamental in establishing this as a key life saving measure in eliminating the stimulus in a malignant hyperthermia event.

Detailed description: see above.

Eligibility: Inclusion Criteria:
  -  healthy ASA PS I or II children 2 years to 16 years old
  -  having general anesthesia for approximately 1 hour or more
  Exclusion Criteria:
  -  malignant hyperthermia susceptible patients (personal or family history)
  -  patients with known neuromuscular disorders at high risk of malignant hyperthermia (e.g., muscular dystrophy)
  -  egg or soy allergy
  -  patient or parent refusal
  -  pregnant patients

Relevance to patient case: not relevant