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

Clinical trial: Open-Label Extension of LOCKCYST Trial

Summary: Positive data originating from two polycystic liver patients treated with somatostatin analogues, showed a volume reduction of 38.3% and 14.9%. These two patients had complicated polycystic livers and no other therapeutic options were available.
  Patients who participated in LOCKCYST trial are able to benefit from active treatment. Participants will be actively treated for 24 weeks.

Detailed description: van Keimpema L, de Man RA, Drenth JP. Somatostatin analogues reduce liver volume in polycystic liver disease. Gut 2008 September;57(9):1338-9.

Eligibility: Inclusion Criteria:
  -  Participated in the LOCKCYST trial
  -  18 yrs-of age
  -  Multiple cysts > 20
  -  Cooperating patient
  -  Is willing and able to comply with the study drug regimen and all other study requirements.
  -  Willingness to give written informed consent
  Exclusion Criteria:
  -  Use of oral anticonceptives or estrogen suppletion
  -  Females who are pregnant or breast-feeding
  -  History or other evidence of chronic pulmonary disease associated with functional limitation
  -  History of severe cardiac disease (eg, NYHA Functional Class III or IV, myocardial infarction within 6 months, ventricular tachyarrhythmias requiring ongoing treatment, unstable angina or other significant cardiovascular diseases). In addition, patients with documented or presumed coronary artery disease or cerebrovascular disease should not be enrolled.
  -  History or other evidence of severe illness or any other conditions which would make the patient, in the opinion of the investigator, unsuitable for the study
  -  Symptomatic gallstones (lanreotide decreases gall bladder volume)
  -  Renal failure requiring hemodialysis

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

Clinical trial: Remifentanil and Atropine for Intubation in Neonates

Summary: The investigators hypothesize that the use of a combination of Atropine and Remifentanil will safely facilitate non emergent intubation procedure as effectively as the protocol of Atropine, Fentanyl, and Succinylcholine.


Eligibility: Inclusion Criteria:
  -  Hemodynamically stable neonates of any gestational age admitted to the Neonatal Intensive Care Unit at McMaster Children's Hospital requiring an elective endotracheal intubation was anticipated.
  Exclusion Criteria:
  -  Urgent intubations
  -  Cyanotic congenital heart lesions
  -  Anticipated difficult airway
  -  Concurrent or recently administered (within 3 hours of the procedure) intravenous opioid infusions
  -  Pre-existing hyperkalemia
  -  Family history of malignant hyperthermia
  -  Prior enrollment

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

Clinical trial: Study Evaluating Single Doses of ILV-095 in Healthy Subjects

Summary: The purpose of this study is to evaluate the safety and tolerability of single doses of ILV-095 in healthy subjects.


Eligibility: Inclusion Criteria:
  1. Healthy men and women of non-childbearing potential ages 18 to 50 years old.
  2. Body mass index (BMI) in the range of 18 to 32 kg/m2 and body weight greater than or equal to50 kg.
  3. Healthy as determined by the investigator on the basis of screening evaluations.
  4. Nonsmoker or smoker of fewer than 10 cigarettes per day as determined by history. Must be able to abstain from smoking during the inpatient stay.
  5. Have a high probability for compliance with and completion of the study.
  Exclusion Criteria:
  1. Presence or history of any disorder that may prevent the successful completion of the study.
  2. Any subject who had orthopedic surgery within 12 weeks of the screening visit or has planned (elective) orthopedic surgery within 12 weeks of study drug administration.
  3. Acute disease state (eg, nausea, vomiting, fever, active infection, or diarrhea) within 7 days before enrollment.

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

Clinical trial: Comparison of 2.0 mg/kg Sugammadex and Neostigmine at Reappearance of T2 in Chinese and European Subjects (Study 19.4.324)(P05768AM1)(COMPLETED)

Summary: The present trial was set up to evaluate the efficacy and safety of 2.0 mg.kg-1 sugammadex compared to neostigmine administered at reappearance of T2 in Chinese and Caucasian subjects for registration purposes in China.


Eligibility: Inclusion Criteria:
  -Subjects who are willing to provide informed consent; be between 18 and 64 years old; are American Society of Anaesthesiology (ASA) class 1-3 (extremes included); scheduled for elective surgery under general anesthesia, allowing stable neuromuscular monitoring, which requires neuromuscular blockade using rocuronium; be compliant with the dose/visit schedules, and use an accepted method of contraception (if applicable).
  For China only: Subjects of Chinese descent born in China, never emigrated out of China and have a Chinese home address. For Europe only: Subjects of Caucasian descent born in Europe, never emigrated out of Europe and have a European home address.
  Exclusion Criteria:
  -Subjects with expected difficult intubation, neuromuscular disorders affecting neuromuscular blockade, significant renal/hepatic dysfunction, use of a tourniquet, (family) history of malignant hyperthermia, allergy to general anesthesia medications, contraindication to study drugs, breast feeding, pregnant, participation in previous or new trials, a clinically significant condition that may interfere with the trial, or membership in the (family of) study/sponsor staff.

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

Clinical trial: Efficacy and Safety of 4.0 mg/kg Sugammadex at 1-2 PTC in Chinese and European Subjects (Study 19.4.335)(P05775AM1)(COMPLETED)

Summary: The present trial is set up to evaluate the efficacy and safety of 4.0 mg.kg-1 sugammadex in Chinese and Caucasian subjects for registration purposes in China.


Eligibility: Inclusion Criteria:
  -Subjects who are willing to provide informed consent; be between 18 and 64 years old; are American Society of Anaesthesiology (ASA) class 1-3 (extremes included); scheduled for elective surgery under general anesthesia, allowing stable neuromuscular monitoring, which requires neuromuscular blockade using
  rocuronium; be compliant with the dose/visit schedules, and use an accepted method of contraception (if applicable).
  For China only: Subjects of Chinese descent born in China, never emigrated out of China and have a Chinese home address. For Europe only: Subjects of Caucasian descent born in Europe, never emigrated out of Europe and have a European home address.
  Exclusion Criteria:
  -Subjects with expected difficult intubation, neuromuscular disorders affecting neuromuscular blockade, significant renal/hepatic dysfunction, use of a tourniquet, (family) history of malignant hyperthermia, allergy to general anesthesia medications, contraindication to study drugs, breast feeding, pregnant, participation in previous or new trials, a clinically significant condition that may interfere with the trial, or membership in the
  (family of) study/sponsor staff.

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

Clinical trial: Preoperative Hyperthermia in Major Abdominal Surgery Patients

Summary: The investigators hypothesize that preoperative hyperthermia improves postoperative complications and compare a placebo group with standard thermoregulatory management (normothermia) to a treatment group receiving 2,5 hours of hyperthermia (38.5-39.5 °C core temperature) in a randomized, single blinded, controlled trial.

Detailed description: The investigators hypothesize that preoperative hyperthermia improves postoperative complications and compare a placebo group with standard thermoregulatory management (normothermia) to a treatment group receiving 2,5 hours of hyperthermia (38.5-39.5 °C core temperature) in a randomized, single blinded, controlled trial.

Eligibility: Inclusion Criteria:
  -  Male and female patients, age 18 - 75
  -  Open abdominal, curative cancer surgery > 2 h
  Exclusion Criteria:
  -  Pregnancy
  -  Chronic cortisone treatment
  -  Ongoing chemotherapy
  -  Acute infections, septic surgery
  -  Palliative surgery (e.g. debulking only)

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

Clinical trial: Trial of PM02734 Administered in Combination With Erlotinib in Patients With Advanced Malignant Solid Tumors

Summary: Phase I multicenter, open-label, dose-escalating clinical and pharmacokinetic trial of PM02734 administered in combination with erlotinib to determine the safety and tolerability and to identify the dose limiting toxicity (DLT) and the recommended dose (RD) of the combination of PM02734 and erlotinib, in patients with advanced malignant solid tumors.

Detailed description: Phase I multicenter, open-label, dose-escalating clinical and pharmacokinetic trial of PM02734 administered in combination with erlotinib to determine the safety and tolerability and to identify the dose limiting toxicity (DLT) and the recommended dose (RD) of the combination of PM02734 and erlotinib, determine the preliminary pharmacokinetics (PK) of the combination, evaluate the preliminary PK/pharmacodynamic correlation, evaluate the preliminary antitumor activity, perform a preliminary pharmacogenomic (PGx) study to explore molecular predictors of response to ErbB receptor antagonists and PM02734 in patient with advanced malignant solid tumors.

Eligibility: Inclusion Criteria:
  -  Voluntary written informed consent form.
  -  Histologically or cytologically confirmed advanced malignant solid tumors.
  -  Measurable or non-measurable disease following (RECIST)
  -  Age ≥ 18 years.
  -  Life expectancy ≥ 3 months.
  -  Performance status ECOG ≤ 2.
  -  Recovery from any drug-related adverse events (AEs) derived from previous treatments.
  -  Appropriate bone marrow, liver and renal function.
  -  Left ventricular ejection fraction (LVEF) within normal limits for the institution.
  -  Women of childbearing potential must have a negative serum pregnancy test before study entry. Both men and women must agree to use a medically acceptable method of contraception throughout the treatment period and for three months after discontinuation of treatment.
  Exclusion Criteria:
  -  Prior therapy with PM02734.
  -  Pregnant or lactating women.
  -  Less than four weeks from radiation therapy.
  -  Evidence of progressive central nervous system (CNS) metastases. or any symptomatic brain or leptomeningeal metastases.
  -  Other relevant diseases or adverse clinical conditions.
  -  Any other major illness that, in the Investigator's judgment.
  -  Limitation of the patient's ability to comply with the treatment or to follow-up at a participating protocol.
  -  Ingestion of potent cytochrome CYP3A4 inhibitors.
  -  Treatment with any investigational product in the 30-day period prior to the first infusion.
  -  Known hypersensitivity to any component of PM02734 or erlotinib.

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

Clinical trial: Dynamic Splinting for Excessive Pronation Following CVA

Summary: The purpose of this study is to examine range of motion and lasting effects of Botox injections along with the use of the Supination Dynasplint.


Eligibility: Inclusion Criteria
  Patients enrolled will have been diagnosed with excessive pronation following a stroke and will display the following symptoms:
  -  Pronation Contracture
  -  Ability to provide consent and follow directions as related to the protocol
  Exclusion Criteria
  -  Treatment with Benzodiazepines
  -  Treatment with Baclofen (pump or oral)
  -  Treatment with Dantrolene sodium
  -  Treatment with Tizanidine

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

Clinical trial: Study to Evaluate Whether BLI-489 Can be Safely Tolerated by Healthy Subjects Given Multiple Doses

Summary: To determine the safety, tolerability, and drug absorption profile of multiple IV doses of BLI 489 in healthy subjects.


Eligibility: Inclusion Criteria:
  -  Men or women of non-childbearing potential (WONCBP) aged 18 to 50 years inclusive at screening;
  -  Body mass index (BMI) in the range of 18 to 32 kg/m2 and body weight ≥50 kg.;
  -  Healthy as determined by the investigator on the basis of screening evaluations;
  -  Calculated creatinine clearance within normal limits using the Cockcroft-Gault formula;
  -  Nonsmoker or smoker of fewer than 10 cigarettes per day as determined by history, and if a smoker must be able to abstain from smoking during the inpatient stay;
  -  Have a high probability for compliance with and completion of the study.
  Exclusion Criteria:
  -  Presence or history of any disorder that may prevent the successful completion of the study;
  -  Any significant cardiovascular, hepatic, renal, respiratory, gastrointestinal, endocrine, immunologic, dermatologic, hematologic, neurologic, or psychiatric disease;
  -  Any surgical or medical condition that may interfere with the distribution, metabolism, or excretion of the investigational product;
  -  Acute disease state (eg, nausea, vomiting, fever, or diarrhea) within 7 days before study day 1;
  -  History of drug abuse within 1 year before study day 1;
  -  Admitted alcohol abuse or history of alcohol use that may interfere with the subject's ability to comply with the protocol requirements.

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

Clinical trial: Pilot Study of a Catheter-based Ultrasound Hyperthermia System

Summary: RATIONALE: Hyperthermia therapy kills tumor cells by heating them to several degrees above normal body temperature. Ultrasound energy may be able to kill tumor cells by heating up the tumor cells without affecting the surrounding tissue. Implant radiation therapy uses radioactive material placed directly into or near a tumor to kill tumor cells. Giving ultrasound hyperthermia therapy after implant radiation therapy may kill more tumor cells.
  PURPOSE: This clinical trial is studying ultrasound hyperthermia therapy to see how well it works after implant radiation therapy in treating patients with Stage III/IV cancer of the cervix or prostate cancer with a rising prostate specific antigen (PSA) after prior local therapy.

Detailed description: OUTLINE: Patients undergo standard high-dose rate (HDR) brachytherapy. Approximately 2 hours after brachytherapy, patients undergo catheter-based ultrasound hyperthermia therapy over 60 minutes. Treatment with HDR brachytherapy and hyperthermia therapy repeats within 1-3 weeks. Patients may then undergo 2 additional standard HDR brachytherapy sessions.
  After completion of study therapy, patients are followed at 1 and 3 months.

Eligibility: Inclusion Criteria:
  Patients who are to be given HDR brachytherapy for treatment of solid tumor of the following:
  -  Cervical cancer Stage III or IV OR
  -  Prostate cancer (with rising prostate specific antigen after prior local therapy)
  Age ≥18 years
  Eligible for brachytherapy as determined per clinical standard of care.
  Ability to give written informed consent and willingness to comply with the requirements of the protocol
  Exclusion Criteria:
  Patients who are not candidates for HDR brachytherapy
  Any condition that compromises compliance with the objectives and procedures of this protocol, as judged by the principal investigator

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

Clinical trial: A Study of MM-111 in Patients With Advanced, Refractory Her2 Amplified, Heregulin Positive Cancers

Summary: This study is an open-label Phase 1 trial of MM-111.

Detailed description: Phase 1: Patients with any solid tumor type may be enrolled to evaluate the safety and tolerability of MM-111.

Eligibility: Inclusion Criteria:
  -  Patients must have histologically or cytologically confirmed advanced cancer that is:
  -  HER2 amplified (IHC 2+ or greater) based on archived tumor evaluation
  -  Heregulin positive based on a study required fresh biopsy sample performed at screening and confirmed by central laboratory
  -  Patients must have blocks of archived formalin-fixed, paraffin-embedded tumor tissue available for sectioning and immunohistochemical staining
  -  Patient's cancer must have recurred or progressed following standard therapy, have not responded to standard therapy, or for which no standard therapy exists.
  -  Patients must be >= 18 years of age
  -  Patients or their legal representatives must be able to understand and sign an informed consent
  -  Patients may have measurable or non-measurable tumor(s)
  -  Patients should have ECOG Performance Score (PS) 0 or 1
  -  Patients must have adequate bone marrow reserves as evidenced by:
  -  Absolute neutrophil count (ANC) >= 1,500/uL and
  -  Platelet count >= 100,000/uL
  -  Hemoglobin >= 9 g/dL
  -  Patients must have tumor tissue amenable to biopsy
  -  Patients must be willing to undergo biopsy prior to treatment to MM-111
  Exclusion Criteria:
  -  Patients for whom potentially curative antineoplastic therapy is available
  -  Patients who are pregnant or lactating
  -  Patients with an active infection or with an unexplained fever greater than 38.5 C during screening visits or on the first scheduled day of dosing. (At the discretion of the investigator, patients with tumor fever may be enrolled)
  -  Patients with untreated and/or symptomatic primary or metastatic CNS malignancies (patients with CNS metastases who have undergone surgery or radiotherapy, whose disease is stable, and who have been on a stable dose of corticosteroids for at least 2 weeks prior to the first scheduled day of dosing will be eligible for the trial
  -  Patients with known hypersensitivity to any of the components of MM-111 or who have had hypersensitivity reactions to fully human monoclonal antibodies (patients with a history of hypersensitivity to trastuzumab, a humanized antibody, are not excluded)
  -  Patients with known HIV, hepatitis B or C (if patients have previously been treated for C and have undetectable viral loads, they can be considered eligible for the trial)

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

Clinical trial: Macular Hole Reopening

Summary: The purpose of this investigation was to determine the incidence and the factors that cause a reopening of a macular hole (MH) after a surgical closure.

Detailed description: A reopening of a macular hole (MH) is a well-known complication of successfully closed MHs. Recently, internal limiting membrane (ILM) peeling has become widely used as an adjunctive procedure during MH surgery. The incidence of a reopening of a MH is 0 to 8.6% in eyes in which the ILM was peeled off, and 2 to 16% in which the ILM was not peeled off. Part of the variation in the percentages of reopening was the length of the follow-up period; eyes with longer follow-up periods have higher incidences of reopening.

Eligibility: Inclusion Criteria:
  -  patients who underwent vitrectomy with or without internal limiting membrane (ILM) peeling for an idiopathic full-thickness macular hole
  Exclusion Criteria:
  -  eyes with previous vitreous surgery, cystoid macular edema from any cause, and traumatically-induced MH were excluded.

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

Clinical trial: Effect of Lidocaine in Antiarrhythmic Dosage on Postoperative Cognitive Dysfunction in Supratentorial Craniotomy Dysfunction in Supratentorial Craniotomy

Summary: The purpose of this study is to investigate the effect of lidocaine in antiarrhythmic dosage on postoperative cognitive dysfunction in supratentorial craniotomy.


Eligibility: Inclusion Criteria:
  -  18-60 years old, ASA physical status I or II, BMI<30
  -  Scheduled for elective supratentorial craniotomy
  -  MMSE<24 before operation
  -  Cooperative and given informed consent in person
  Exclusion Criteria:
  -  History of mental or psychiatric disorders
  -  Contraindicated to internal jugular venous catheterization
  -  Pregnant or lactating female
  -  History of systemic malignant tumor or diabetes
  -  Previously treated with this protocol or participated in another study within previous 30 days
  -  Suspected history of allergic reaction or intolerance to amides or other anesthetic agents in this study
  -  History of alcohol abuse and/or drug abuse within previous one year
  -  History or a family history of malignant hyperthermia

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

Clinical trial: Study of Blood Samples and Risk of Infection in Patients With Newly Diagnosed Malignant Supratentorial Astrocytoma

Summary: RATIONALE: Gathering information over time from laboratory tests of patients with newly diagnosed malignant supratentorial astrocytoma may help doctors learn more about the effect of treatment on white blood cell count and the risk of infection.
  PURPOSE: This clinical trial is studying blood samples and risk of infection in patients with newly diagnosed malignant supratentorial astrocytoma.

Detailed description: OBJECTIVES:
  -  Determine the frequency and severity of decreases in CD4 counts as a function of therapy in patients with newly diagnosed malignant astrocytoma.
  -  Determine whether the decrease in CD4 counts is a significant predictor of infections or adverse outcomes in these patients.
  OUTLINE: This is a multicenter study.
  Patients undergo monthly collection of blood for serial CD4 counts and heme-8 with differential for 1 year for quantitative analysis. Patients also complete a monthly questionnaire about infections and antibiotic use.
  Patients are followed every 2 months.
  PROJECTED ACCRUAL: A total of 125 patients (100 with high-grade disease and 25 with low-grade disease) will be accrued for this study.

Eligibility: DISEASE CHARACTERISTICS:
  -  Histologically confirmed primary malignant brain tumor in 1 of the following groups:
  -  High grade (grade III or IV) supratentorial glioma receiving antineoplastic treatment and with 1 of the following histologies:
  -  Anaplastic astrocytoma
  -  Glioblastoma multiforme (giant cell glioblastoma or gliosarcoma)
  -  Anaplastic oligodendroma
  -  Low grade (grade I or II) supratentorial glioma not planning to receive treatment of any kind (including steroids) and with 1 of the following histologies:
  -  Astrocytoma
  -  Oligodendroglioma
  PATIENT CHARACTERISTICS:
  -  Karnofsky performance status 60-100%
  -  No HIV positivity
  PRIOR CONCURRENT THERAPY:
  -  No prior chemotherapy for brain tumor except polifeprosan 20 with carmustine implant (Gliadel® wafer)
  -  No prior cranial radiotherapy or radiotherapy for brain tumor
  -  No prior immunotherapy or biologic agents for brain tumor, including any of the following:
  -  Immunotoxins
  -  Immunoconjugates
  -  Peptide receptor antagonists
  -  Interleukins
  -  Interferons
  -  Tumor-infiltrating lymphocytes
  -  Lymphokine-activated killer cell therapy
  -  Gene therapy
  -  Antisense therapy
  -  No prior hormonal therapy for brain tumor
  -  More than 14 days since prior and no concurrent steroid therapy for patients with low-grade (grade I or II) astrocytoma
  -  Prior glucocorticoid therapy allowed

Relevance to patient case: not relevant