araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Carbetocin on Myocardial Repolarization Dynamics in Obstetrics Study

Summary: Relationship between carbetocin dose on transmural dispersion of repolarization (TDR).

Detailed description: Carbetocin is a uterotonic used to prevent postpartum hemorrhage. Although it has been proven to be completely safe, little is known about its effects on the electrical activity of the heart. The investigators aim to determine its effect on myocardial repolarization dynamics

Eligibility: Inclusion Criteria:
  -  Pregnant patients ≥ 36 weeks gestation, for elective Cesarean delivery under neuraxial anesthesia
  -  American Society of Anesthesiologists (ASA) class 2
  -  Patients ≥ 19 years of age
  Exclusion Criteria:
  -  Long QT syndrome
  -  Cardiac disease or rhythm abnormalities
  -  Family history of long QT syndrome or abnormal cardiac conduction
  -  Currently taking medication that is known to prolong the QT interval
  -  Women who are high risk for uterine atony as outlined in SOGC
  -  Known allergic reaction or hypersensitivity to Carbetocin or any other oxytocin homologue
  -  Patients who are unable to give informed consent because of a language barrier as the study team only speaks English and will be unable to complete consent process and study procedure appropriately.

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Long Acting Buprenorphine Injection Compared to Sublingual Buprenorphine/Naloxone Films

Summary: While substance use disorders have been found to have relapse rates on part with other chronic illnesses such as hypertension and asthma long term abstinence remains elusive for many. The FDA has recently approve a long acting subcutaneous injectable formulation of buprenorphine. This study aims to determine the feasibility of enrolling and randomizing patients seeking treatment at an outpatient substance abuse clinic to buprenorphine/naloxone films which dissolve under the tongue vs. long acting buprenorphine injection with all other treatment aspects held constant. The study also aims to determine the effectiveness of monthly injections of Sublocade® compared to daily oral Suboxone® SL therapy in the treatment of moderate to severe opioid use disorder after twenty-four weeks of treatment.

Detailed description: While substance use disorders have been found to have relapse rates on part with other chronic illnesses such as hypertension and asthma long term abstinence remains elusive for many. Fortunately, the FDA has recently approved a long acting subcutaneous injectable formulation of buprenorphine. While this drug has proven effective in retaining patients in care and decreasing drug cravings as compared to placebo, this drug has not been tested in a real world clinic setting and no studies exist comparing it to the current formulations of buprenorphine. The objective of this study is to perform a randomized pilot study directly comparing sublingual buprenorphine/naloxone to long acting buprenorphine subdermal injection in a standard Office-Based Opioid Agonist Treatment (OBOT) clinic. The study team will compare patient retention, percentage of negative urinary drug screens, and withdrawal scores between the two groups. The findings will provide insight for US providers seeking more effective and efficient ways to treat Opioid use disorder (OUD) in the outpatient setting.

Eligibility: Inclusion Criteria:
  -  Subjects who present to the WFBMC Medication-Assisted-Therapy (MAT) clinic seeking OBOT.
  Exclusion Criteria:
  -  Those patients who have:
  -  history of cirrhosis, >= CKD stage 3
  -  congenital long QT syndrome
  -  those on antiarrhythmic medications
  -  liver enzymes more than 2 times the upper normal value at baseline assessment
  -  elevated bilirubin
  -  chronic pulmonary condition
  -  current unstable and untreated psychiatry comorbid disorder
  -  pregnant
  -  use of benzodiazepines/other CNS depressant medications

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Evaluation of the Efficacy and Safety of Nifekalant Hydrochloride (NIF) Injection.

Summary: Efficacy and safety evaluation of amiodarone and Nifekalant hydrochloride(NIF) for the treatment of ventricular tachycardia and ventricular fibrillation.

Detailed description: After patients are hospitalized, they will be treated as usual in addition to antiarrhythmic drugs. DC will be performed again according to normal procedures for patients who were ineffective. Arrhythmia drugs can only be used with nifekalant or amiodarone at random.

Eligibility: Inclusion Criteria:
  -  Patients with persistent ventricular tachycardia or ventricular fibrillation who have a combined physical heart disease, or who have a conventional drug ineffective or persistent idiopathic ventricular tachycardia with amiodarone indications;
  -  Age ≥ 18 years old, gender is not limited.
  Exclusion Criteria:
  -  Patients with prolonged ventricular tachycardia with QT interval and patients with QTc interval of more than 500 ms before administration;
  -  Patients with torsades de pointes (Tdp);
  -  Patients with Brugada syndrome;
  -  Patients with severe atrioventricular block and without pacing protection;
  -  Patients with hypertrophic cardiomyopathy (HCM) with ventricular septal thickness or (and) left ventricular wall ≥ 15 mm;
  -  Pregnant or lactating women;
  -  Patients who are not suitable for the study, considered by investigators.

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: China Inherited Ventricular Arrhythmias Registry

Summary: This is an observational, prospective, multi-center registry, aiming at building a risk stratification for malignant inherited ventricular arrhythmias, including Brugada syndrome(Brs)、Long QT syndrome(LQTS)、Short QT syndrome(SQTS)、Early repolarization syndrome(ERS) and Catecholaminergic polymorphic ventricular tachycardia(CPVT). 500 participants will be recruited from 10 centers in China, with clinical data to be abstracted from medical records, and blood samples to be collected for finding related genes and promising risk indicators. The follow-up should be made every 6 months.

Detailed description: In China, the prevalence and risk factors of malignant ventricular arrhythmias remain unclear. In addition, mainstream treatment relies on implantable devices and medication. China Malignant Ventricular Arrhythmias Study is a nation-wide complex consisting of several interrelated studies, with the aim of building a risk stratification as well as an efficient and economic strategy for early prevention and treatment.
  Inherited Ventricular Arrhythmias Registry, as a part of China Malignant Ventricular Arrhythmias Study, is an observational, prospective, multi-center registry, aiming at exploring the correlation between genotype and phenotype for inherited structural ventricular arrhythmias, thus helping molecular diagnosis and risk stratification of these conditions. 500 patients with definitive diagnosis will be recruited consecutively from 10 major arrhythmia centers distributed in 6 areas in China. At study entry, participants will be interviewed and asked to sign the informed consent. Demographic characteristics, medical history, clinical features, laboratory tests, imaging pictures, medications, procedures, and in-hospital outcomes of patients will be abstracted from medical records by well-trained staffs. At the same time, blood samples will be collected to detect biological markers, like genes, inflammatory factors ,etc. Once enrolled, the participants will receive follow up every 6 mouths about condition of arrhythmia, medication, clinical events, etc.

Eligibility: Inclusion Criteria:
  -  diagnosed as Brugada syndrome(Brs)、Long QT syndrome(LQTS)、Short QT syndrome(SQTS)、Early repolarization syndrome(ERS) or Catecholaminergic polymorphic ventricular tachycardia(CPVT).
  Exclusion Criteria:
  -  patients were enrolled by other clinical trials.

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Induced Pluripotent Stem Cells for Niemann Pick Disease

Summary: Establishment of individualized human cellular disease models based on induced pluripotent stem cells that reflect the broad heterogeneous phenotypic spectrum of Niemann Pick disease

Detailed description: Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants, children, or adults. Neonates can present with ascites and severe liver disease from infiltration of the liver and/or respiratory failure from infiltration of the lungs. Other infants, without liver or pulmonary disease, have hypotonia and developmental delay. The classic presentation occurs in mid-to-late childhood with the insidious onset of ataxia, vertical supranuclear gaze palsy, and dementia. Dystonia and seizures are common. Dysarthria and dysphagia eventually become disabling, making oral feeding impossible; death usually occurs in the late second or third decade from aspiration pneumonia. Adults are more likely to present with dementia or psychiatric symptoms. The diagnosis of NPC is confirmed by biochemical testing that demonstrates impaired cholesterol esterification and positive filipin staining in cultured fibroblasts. Biochemical testing for carrier status is unreliable. Most individuals with NPC have NPC1, caused by mutations in the NPC1 gene; fewer than 20 individuals have been diagnosed with NPC2, caused by mutations in the NPC2 gene. Molecular genetic testing of the NPC1 genes detects disease-causing mutations in approximately 94% of individuals with NPC. Such testing is available clinically.
  NPC is inherited in an autosomal recessive manner. The phenotype (i.e., age of onset and severity of symptoms) usually runs true in families. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible when the two disease-causing mutations have been identified in the family.
  Though NPC is a pan-ethnic disorder, the prevalence of this autosomal-recessive disorder is elevated in countries with a higher frequency of consanguinity.
  Therefore, the goal of the study to prepare a cell culture from patients affected with Niemann Pick disease in order to identify novel pathways and proteins involved in disease progression that allow for an earlier diagnosis (i.e. before symptom onset) and that are suitable targets for an individualized therapeutic approach able to address not only the hepatic form, but also the neurologic form of the disease, which is less responsive to the current therapeutic approaches.

Eligibility: Inclusion Criteria:
  -  Informed consent will be obtained from the patient or the parents before any study related procedures
  -  Patients of both genders older than 6 months and younger than 80 years
  -  The patient has a diagnosis of Niemann Pick disease
  Exclusion Criteria:
  -  No Informed consent from the patient or the parents before any study related procedures
  -  Patients of both genders younger than 6 months or older than 80 years
  -  No diagnosis of Niemann Pick disease

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

Clinical trial: 41.8 Degree Centigrade Whole Body Hyperthermia for the Treatment of Rheumatoid Diseases

Summary: Recently a non-toxic system for whole body hyperthermia (WBH) used at the University of Wisconsin has been shown to induce soluble tumor necrosis factor-receptor (sTNF-R) I and II when patients are heated systemically to 41.8C for 60 minutes. This observation might provide a biological basis for the therapeutic application of WBH to rheumatoid diseases, for which there is a positive anecdotal clinical experience. Inherent in the hypothesis which is the basis for this protocol is the concept that the induction of TNF receptors by WBH may induce a remission in patients with active rheumatoid arthritis. Beyond clinical response the biological endpoint for this investigation includes cytokine levels, TNF levels, sTNF-R levels and changes in cellular TNF receptors.


Eligibility: Inclusion Criteria:
  -  Patients are required to meet the criteria of the American College of Rheumatology (ACR)for rheumatoid arthritis.
  -  Patients should be in functional class II, or III according to the criteria of the ACR.
  -  All candidates must be unsuccessfully treated (lack of efficacy) with at least two of the following disease-modifying antirheumatic drugs: hydroxychloroquinine, oral or injectable gold, methotrexate, azathioprine, penicillamine, and sulfasalazine.
  -  Patients receiving nonsteroidal antiinflammatory drugs (NSAIDs), corticosteroids (<= 10 mg per day), or both are eligible if the dosage has been stable for at least four weeks before treatment and remained so throughout the study and follow-up period (the use of narcotics for pain flares is allowed).
  -  The necessary degree of disease activity at enrollment should be confirmed by a finding of 10 or more swollen joints, 12 or more tender joints, and one of the following two criteria: a Westergren erythrocyte sedimentation rate of at least 28 mm per hour or a serum C-reactive protein level of more than 2.0 mg per deciliter; or morning stiffness for at least 60 minutes.
  -  Patients must have adequate bone marrow function, adequate liver function, adequate renal function, calcium and electrolytes.
  -  Patients must have a dobutamine stress ECHO, or exercise cardiac MUGA, or exercise ECHO scan prior to entry and must fulfill certain criteria to be eligible. The spirit of the criteria are to rule out organic heart disease.
  -  Respiratory status: Patients who have FEV1 of >= 60% of predicted, as well as a maximum voluntary volume (MVV) of >= 60% of predicted, and blood gases with a PO2 of >= 60 or oxygen saturation of >= 90% are eligible.

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

Clinical trial: Interleukin-2 Plus Interferon Alfa in Treating Adults With Metastatic Cancer

Summary: RATIONALE: Interleukin-2 may stimulate a person's white blood cells to kill metastatic cancer cells. Interferon alfa may interfere with the growth of the cancer cells. Combining interleukin-2 and interferon alfa may kill more cancer cells.
  PURPOSE: Phase II trial to study the effectiveness of interleukin-2 plus interferon alfa in treating adults with metastatic cancer.

Detailed description: OBJECTIVES: I. Determine the response rate, failure-free survival, and overall survival of interleukin-2 and interferon alpha administered subcutaneously on an outpatient basis for 8 weeks to patients with metastatic cancer. II. Determine the toxicities associated with this therapy.
  OUTLINE: Biological Response Modifier Therapy. Interleukin-2 (Cetus), IL-2, NSC-373364; Interferon alpha (Schering), IFN-A, NSC-377523.
  PROJECTED ACCRUAL: Up to 30 patients with various malignancies will be entered.

Eligibility: DISEASE CHARACTERISTICS: Histologically confirmed metastatic cancer of any type Measurable or evaluable disease required, i.e.: Bidimensionally measurable lesions on physical exam, x-ray, CT, MRI, or other radiologic procedure Any lesion apparent on radiologic exam that is not measurable in 2 perpendicular diameters Previously irradiated lesions acceptable provided subsequent progression is documented No active brain metastases Previously treated brain metastases allowed provided measurable/evaluable disease exists outside the CNS
  PATIENT CHARACTERISTICS: Age: 18 and over Performance status: ECOG 0-2 Hematopoietic: (within 14 days prior to entry) WBC at least 3,000 Platelets at least 100,000 Hematocrit at least 30% (may be transfused) Hepatic: (within 14 days prior to entry) Bilirubin less than 2.0 mg/dl PT and PTT normal Renal: (within 14 days prior to entry) Creatinine less than 2.0 mg/dl Cardiovascular: No MI within 6 months No medication for arrhythmia No medication for CHF Hypertension that is stable off medication allowed Pulmonary: pO2 at least 60 mm Hg in patients with primary lung cancer or symptomatic pulmonary disease Reasonable respiratory reserve No dyspnea at rest No requirement for supplemental oxygen Other: No familial history of malignant hyperthermia No chronic underlying immunodeficiency disease No HIV seropositivity No active infection requiring antibiotic therapy No other serious intercurrent illness No concurrent malignancy No pregnant or nursing women Adequate contraception required of fertile women
  PRIOR CONCURRENT THERAPY: No concurrent therapy with other anticancer agents No concurrent immunosuppressive agents (e.g., cyclosporin) Biologic therapy: Prior interferon alpha allowed Chemotherapy: At least 4 weeks since systemic chemotherapy with recovery required Endocrine therapy: No concurrent corticosteroids Radiotherapy: At least 4 weeks since radiotherapy Surgery: Adequate recovery required Other: No prior organ allograft

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

Clinical trial: Effects of Insulin Sensitizers in Subjects With Impaired Glucose Tolerance

Summary: Subjects with impaired glucose tolerance will be randomized to receive pioglitazone or metformin for 10 weeks. Measurements of insulin sensitivity, body composition, glucose tolerance, and muscle lipid accumulation will be performed. Adipose tissue and muscle biopsies are performed. The goal of the study is to determine whether the lipotoxiciy of impaired glucose tolerance is ameliorated by pioglitazone.

Detailed description: The progression to type 2 diabetes represents an evolution, which results from a vicious cycle where both glucotoxicity and lipotoxicity act to reduce insulin secretion and insulin action. Lipotoxicity is a new concept, which refers to overaccumulation of lipids in non-adipose tissue reflecting increased free fatty acid delivery. Increased fat content of skeletal muscle and islet cell is associated with insulin resistance and impaired pancreatic -cell function respectively in animal models. Whether lipotoxicity is the link between obesity and diabetes, in humans, and whether reducing intracellular fat content will improve insulin secretion and sensitivity in humans is not known. In this study, we will focus on obese subjects with impaired glucose tolerance (IGT) who have not yet developed glucose toxicity. We will examine insulin secretion, insulin action, hepatic glucose production, and muscle lipid metabolism in response to two insulin sensitizers with two different modes of action. We propose that thiazolidinediones will improve cell function by reversing lipotoxicity as reflective in reduced muscle lipid accumulation.
  Hypothesis 1. In subjects with impaired glucose tolerance, who are insulin resistant and also have an insulin secretory defect, thiazolidinediones, but not biguanides, improve cell function.
  Hypothesis 2. In subjects with impaired glucose tolerance, thiazolidinediones, but not biguanides, decrease the accumulation of fat in non-adipose tissues including muscle, pancreas, liver and myocardium.
  Specific Aim 1. Fifty subjects with impaired glucose tolerance will be recruited and randomized to pioglitazone or metformin treatment
  Specific Aim 2. cell function will be evaluated by measuring changes in acute insulin response to glucose and non-glucose secretagogues in subjects with IGT and it will be compared in response to treatment with pioglitazone versus metformin.
  Specific Aim 3. The muscle fat content will be evaluated as the surrogate measure for lipotoxicity and overaccumulation of fat in non-adipose tissue. From the muscle biopsy specimens, we will measure the amount of intramyocellular triglyceride before and after treatment with pioglitazone versus metformin.
  Specific Aim 4. Adipose tissue cytokine expression is associated with changes in muscle lipid accumulation.

Eligibility: Inclusion Criteria:
  -  Impaired glucose tolerance
  -  Body mass index (BMI) of 28-38
  Exclusion Criteria:
  -  Heart disease
  -  Renal disease
  -  Liver disease

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

Clinical trial: Chemotherapy Treatment for Children With Intraocular Germ-Line Retinoblastoma

Summary: Retinoblastoma is an unusual cancer of early childhood involving tumor is both eyes or, in certain circumstances, one eye only. This condition is the result of an abnormal gene which makes both retinas (the back of the eye) vulnerable to develop multiple tumors. Growths in the eye impair vision temporarily or permanently. These tumors are malignant, which means that they can grow within the eye, spread outside of the eye, and be fatal if untreated.
  Standard therapy for bilateral retinoblastoma includes removal of one eye if vision cannot be save and radiation treatment of either eye in which vision might be saved. Radiation controls tumor growth in the majority of cases. Another standard method is cryotherapy (freezing a tumor to kill it). Chemotherapy (medicines used to kill tumor cells) has been used in the past for tumor in or outside the eye, but is not standard. Hyperthermia, increasing the temperature of a tumor to kill it, is widely performed, and can be done to a retinoblastoma tumor by a laser; this method is not standard.
  The problem with removal of an eye is that any hope of vision is lost. The problems with radiation include incomplete control of tumor, injury to the eye or surrounding tissue with decreased growth, and that (due to the abnormal retinoblastoma gene) children are very susceptible to develop other tumors, especially in the tissue which was given radiation.
  The doctors at Children's Memorial Hospital are using a newer form of treatment, including laser hyperthermia, chemotherapy and cryotherapy to decrease retinoblastoma tumors. Some may be controlled indefinitely, reducing the number of eyes that need radiation or removal.
  OBJECTIVES
  1. To find out how well chemotherapy plus cryotherapy and laser hyperthermia work on retinoblastoma tumors.
  2. To find out whether vision can be saved and tumors controlled without radiation or removal of the eye.


Eligibility: Eligibility Criteria:
  -  Initial clinical diagnosis of Retinoblastoma, with Bilateral tumors, OR Unilateral tumor with hope for salvage of vision AND Multiple primary tumors, or positive family history for retinoblastoma, or age < 12 months
  -  No prior antitumor therapy (except enucleation of one eye)
  -  At least one tumor exceeds 6 mm in diameter
  -  No evidence of dissemination outside the globe
  -  Signed IRB-approved informed consent
  -  Patient/family available for follow-up

Relevance to patient case: not relevant