araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Genetic Variants and Chemotherapy-induced Abnormal Thermal Sensation

Summary: This is a prospective, single arm, single center study evaluating the use of a 4-gene panel to predict the occurrence of chemotherapy-induced abnormal thermal threshold in endometrial and ovarian cancer patients receiving post-operative chemotherapy with Carboplatin/Paclitaxel, and stage III colorectal cancer patients receiving adjuvant chemotherapy with mFOLFOX6. A total of 100 patients will be enrolled during 2017 July~ 2019 June. Blood sample will be collected before chemotherapy to analyze the genetic variants of TRPV1, TRPM2, TRPA1 and ORAI1. All patients will receive neurologic examination (Quantitative Sensory Test, QST) and complete the questionnaires for quality of life (EQ5D & CIPN20). The primary endpoint of this study is to test if the genetic variant of TRPV1, TRPM2, TRPA1, and ORAI1 is a predictive biomarker for the chemotherapy-induced abnormal thermal sensation in cancer patients.


Eligibility: Inclusion Criteria:
  -  Age ≥ 20 years old
  -  Pathological stage I~IV for ovarian cancer, stage II~IV for endometrial cancer, or stage III for colorectal cancer.
  -  Scheduled to receive adjuvant Paclitaxel/Carboplatin for ovarian or endometrial cancer, or mFOLFOX6 for colorectal cancer.
  -  Patient willing to provide blood sample for research purposes.
  -  Ability of the patient to provide informed consent.
  Exclusion Criteria:
  -  Prior treatment with neurotoxic chemotherapy, such as oxaliplatin, cisplatin, carboplatin, taxanes or vinca alkaloids.
  -  Receiving chemotherapy within 6 months.
  -  A family history of a genetic or familial neuropathy
  -  Poor compliance

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Arrhythmogenic Substrate in Primary Cardiomyopathies

Summary: This study assesses the value of arrhythmogenic substrate identification and elimination by catheter ablation to prevent recurrent ventricular arrhythmias and sudden cardiac death in a series of selected patients with primary cardiomyopathy and ICD implantation.

Detailed description: The present study is designed as a prospective single center study. All selected patients with implanted ICD to prevent VT/VF recurrence who are referred to the Arrhythmology Department of San Donato Milanese Hospital, for the management of a primary cardiomyopathy fulfilling the inclusion criteria will be enrolled. Primary cardiomyopathies include: - dilated cardiomyopathy (DCM), - arrhythmogenic right ventricular cardiomyopathy (ARVC), - left ventricular non-compaction (LVNC), - early repolarization syndrome (ER), and - hypertrophic cardiomyopathy (HCM). Patients with a family history of BrS, will also be included. Endo-epicardial electroanatomical 3Dmapping and RFA ablation will be systematically performed according to a standardized procedure. Patients will be monitored for at least 3 days after RF ablation. Before hospital discharge, echocardiography and 12-lead ECG will be performed. Patients will be followed-up clinically after the procedure as per normal clinical practice. Follow-up visits will be systematically scheduled at 3, 6, 12, 18 and 24 months. 12-lead ECG and ICD interrogation will be performed at each follow-up visit. Patients will be instructed to immediately contact the center in case of symptoms suggestive of ventricular arrhythmias. Documentation for intercurrent events will be requested and collected. The maximal duration of study participation for the individual patients is two years.

Eligibility: Inclusion Criteria:
  -  Patients affected by cardiomyopathies with and without documented family history of BrS;
  -  Presence of symptoms attributable to VA and/or presenting documented arrhythmic episodes;
  -  Patients with an ICD already implanted;
  -  Patients referred to the centre for an electrophysiological study and indication for a potential concomitant radio-frequency catheter ablation (RFA) of ventricular tachycardia (VT) or ventricular fibrillation (VF);
  -  Age ≥ 18;
  -  Willingness to attend follow-up examinations;
  -  Written informed consent for the participation in the trial
  Exclusion Criteria:
  -  Pregnancy or breast-feeding;
  -  Life expectancy < 12 months

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: A Study of ARRY-371797 in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation

Summary: This is a randomized, double-blind, placebo-controlled study in patients with dilated cardiomyopathy (DCM) due to a gene encoding the lamin A/C protein (LMNA) mutation. The study will further evaluate a dose level of ARRY-371797 that has shown preliminary efficacy and safety in this patient population. After the primary analysis has been performed, eligible patients may receive open-label treatment with ARRY-371797.


Eligibility: Selected Key Inclusion Criteria:
  -  Patients with symptomatic lamin A/C protein (LMNA)-related cardiomyopathy Class II/III/ or Class IV defined as:
  -  Gene positive for a deleterious mutation in the LMNA gene as determined by the study central laboratory or by initial laboratory testing (central confirmation of initial laboratory results is required prior to randomization and study treatment).
  -  Evidence of cardiac impairment in EF
  -  Patient will have an implantable cardioverter defibrillator/cardiac resynchronization therapy defibrillator (ICD/CRT-D). ICD implanted at least 4 weeks prior to initiation of study treatment or CRT-D initiated at least 6 months prior to initiation of study treatment
  -  Class II/III patients must have objective functional impairment evidenced by a reduction in 6-minute walk test (6MWT);
  -  Stable medical and/or device therapy consistent with American Heart Association (AHA) / American College of Cardiology (ACC) or European Society of Cardiology (ESC) guidelines
  -  Patients must meet acceptable hematology, hepatic and renal laboratory values as specified
  Selected Key Exclusion Criteria:
  -  Presence of other form(s) of cardiomyopathy contributing to HF (e.g., inflammatory or infiltrative cardiomyopathy) or clinically significant cardiac anatomic abnormality (e.g., LV aneurysm).
  -  Clinically significant coronary artery disease (e.g., coronary revascularization, exercise-induced angina) per Investigator judgment.
  -  Uncorrected, hemodynamically significant (i.e., moderate-severe) primary structural valvular disease not due to HF.
  -  Currently receiving or deemed at high risk of requiring chronic renal replacement therapy (e.g., hemodialysis or peritoneal dialysis) within 6 months.
  -  Treatment with any investigational agent(s) for HF within 28 days prior to Day 1. Any treatment with an investigational agent(s) requires approval from the Medical Monitor.
  -  Malignancy that is active or has been diagnosed within 3 years prior to screening, except surgically curatively resected in situ malignancies or surgically cured early breast cancer, prostate cancer, skin cancer (basal cell carcinoma, squamous cell carcinoma) or cervical cancer.
  -  Non-cardiac condition that limits lifespan to < 1 year.
  -  Serum positive for hepatitis B surface antigen, viremic hepatitis C, or human immunodeficiency virus (HIV) at screening.

Relevance to patient case: definitely relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Duchenne Muscular Dystrophy Heart Study

Summary: Retrospective cohort study including patients with genetically proven Duchenne muscular dystrophy, diagnosed from January 1993 to March 2020.
  Inclusion of the data relative to genetic diagnosis, clinical characteristics at baseline, cardiac and respiratory workup, medical treatments (ACE inhibitors, steroids), surgical procedures, and occurrence during follow-up of cardiac, respiratory and fatal events.
  Objectives are to describe long-term natural history of the disease, vital prognosis, genotype-phenotype correlations, effect of treatments.


Eligibility: Inclusion Criteria:
  -  Genetically-proven Duchenne Muscular Dystrophy (DMD mutation)
  -  Covering by social security
  Exclusion Criteria:
  -  Patient refusal to participate to the study

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Reproductibility of Cystometry in Multiple Sclerosis Patient

Summary: This study evaluates the reproductibility (quantitative and qualitative) of cystometry in mutiple sclerosis patients.

Detailed description: Some studies have evaluated the reproductibility of urodynamics in women with stress incontinence, and demonstrated a poor reproductibility of urodynamic parameters for a part of the studies and a good reproductibility for the others. There is only three studies investigating the reproductibility of repeated cystometries in patients with overactive detrusor and neurogenic lower tract dysfunction. The most common etiology in these studies is spinal cord injury. Only one article includes MS patients with lower urinary tract symptoms (22 patients among 226 with other etiologies).
  The aim of this study was to assess the short term reproductibility in multiple sclerosis patients with qualitative and quantitative urodynamic data.
  The authors conducted a prospective analysis in our Neuro-urology department of a University Hospital . All patient with Multiple Sclerosis referred for urinary disorders, coming for a urodynamic evaluation with multiple cystometries during the study were included if they had a detrusor overactivity for a filling of 300 ml or less on the first cystometry. The main exclusion criteria were a significate difference between the filling volume during the study and the volume truly of water truly collected after catheterization, an urinary tract infection, or an other acute disease.The investigators performed a first cystometry and looked for a detrusor overactivity, if the investigators discovered an involuntary detrusor contraction for a filling of 300 ml or less, the authors realized two others cystometries (filling rate of 50 mL/min) after informed consent. The volume and pressure at which the first and the maximal involuntary detrusor contraction, MCC were documented.

Eligibility: Inclusion Criteria:
  -  All patient with Multiple Sclerosis referred for urinary disorders,
  -  coming for a urodynamic evaluation with multiple cystometries during the study - detrusor overactivity for a filling of 300 ml or less on the first cystometry.
  Exclusion Criteria:
  -  significate difference between the filling volume during the study and the volume truly of water truly collected after catheterization,
  -  an urinary tract infection,
  -  an other acute disease.

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Coronary Artery Disease and Coronary Microvascular Disease in Cardiomyopathies Registry

Summary: Long-term prognostic value of macrovascular and microvascular coronary artery stenoses in each type of cardiomyopathy.

Detailed description: Coronary artery imaging techniques have taken a central role in the assessment of cardiovascular (CV) diagnosis over the past two decades. Many patients with a cardiomyopathy are also found to have a bystander coronary artery disease, not responsible for their cardiomyopathy. However, the prognostic value of those bystander coronary artery diseases is not known.
  Also, new imaging techniques have been developed to assess coronary microvascular disease, but the prognostic value of these findings is not known.
  In this study, the investigators evaluate the incidence and the prognosis of bystander coronary artery disease and microvascular disease in patients with ischemic, hypertrophic, dilated and restrictive cardiomyopathies in 5 French centers.
  Coronary angiography, cardiac magnetic resonance (CMR), tomographic coronary artery angiography, single-photon emission computed tomography (SPECT), rest and stress trans-thoracic echocardiography (TTE) results will be recorded.
  Macrovascular coronary artery disease is defined by :
  -  a stenosis > 50 % in coronary angiography confirmed with myocardial ischemia (SPECT, stress echocardiography),
  -  a stenosis > 70 % (50% if it is the left main coronary artery)
  -  or a stenosis 30-70 % with a fractional flow reserve (FFR) < 0.8 Microvascular disease is defined by an index of microvascular resistance (IMR) >23 or myocardial perfusion heterogeneity imaging (MPHI) > 4 using SPECT or CMR.
  Major adverse cardiovascular events (MACE) will be assessed 1 year, 2 years and 5 years after enrollment.

Eligibility: Inclusion Criteria:
  -  Ischemic
  -  Dilated
  -  Hypertrophic
  -  Restrictive cardiomyopathy.
  Exclusion Criteria:
  -  Pregnant women
  -  Breastfeeding women
  -  Patients under legal protection

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Sahlgrenska Cardiomyopathy Project

Summary: This is a joint project by Sahlgrenska University Hospital: Sahlgrenska, Östra and Mölndal.
  Our objective is to diagnose and map patients with well phenotyped cardiomyopathies (CMP) including in depth clinical and molecular phenotyping to enable earlier and specific treatment. The project will serve as:
  1. resource for diagnostic and therapeutic trials
  2. common biomaterial bank
  3. resource for detailed molecular analyses on patients' biomaterials and patient specific symptoms and examination results


Eligibility: Inclusion Criteria:
  -  Patients with primary cardiomyopathies including hereditary and inflammatory dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, myocarditis, giant cell myocarditis, sarcoidosis and amyloidosis engaging the heart
  Exclusion Criteria:
  -  Patient with other preexisting cardiac diseases such as significant valvular, ischemic or pericardial disease before they receive a cardiomyopathy diagnose
  -  patients < 18 years

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: An Investigational Study of Continuous 8-Hour Intravenous Administrations of BMS-986231 in Participants With Heart Failure and Reduced Heart Function Given a Standard Dose of Loop Diuretic

Summary: The purpose of this study is to investigate continuous 8-hour introductions of BMS-986231 in participants with heart failure and weakened heart function given a standard dose of diuretic.


Eligibility: For more information regarding Bristol-Myers Squibb Clinical Trial participation, please visit www.BMSStudyConnect.com
  Inclusion Criteria:
  -  Left ventricular ejection fraction <45%, as assessed by echocardiography, a multigated acquisition (MUGA) scan or magnetic resonance imaging (MRI) scan within 18 months
  -  On stable chronic guideline-directed therapy for HF including chronic loop diuretics, ACEi, ARBs, MRAs, ARNI or / and β-blockers as tolerated, with no changes of these medications in the past 2 weeks
  -  At least an oral dose of 40 mg of furosemide/day or equivalent (20 mg torsemide, 1 mg bumetamide)
  Exclusion Criteria:
  -  SBP < 115 mm Hg or > 180 mm Hg at screening or pre-randomization
  -  Heart rate < 50 beats per minute (bpm) or > 120 bpm at screening or pre-randomization
  -  Primary HF etiology attributable to either restrictive/obstructive cardiomyopathy, idiopathic hypertrophic or uncorrected severe valvular disease
  Other protocol defined inclusion/exclusion criteria could apply

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Effect of Intense Sport Practice in Athletes With Non-ischemic Scar

Summary: The prognostic relevance of isolated non-ischemic LGE (i.e. with no underlying "labelled" cardiomyopathy) is unclear, and current guidelines to not state on the clearance of athlete with this type of findings as regards to competitive or intense sport practice.
  The principal objective of the study is to evaluate during a five-years follow up, the clinical outcome of athletes with this kind of findings. The secondary objective is the determination of prognostic factors. The management and follow-up of the athletes will be let at the appraisal of each center.

Detailed description: The presence of a scar, assessed by late gadolinium enhancement (LGE) on cardiac resonance imaging (CMR), is associated with a poor prognosis in patients with ischemic heart disease or cardiomyopathy. But the prognostic relevance of isolated non-ischemic LGE (i.e. with no underlying "labelled" cardiomyopathy) is unclear, and current guidelines do not state on the clearance of athlete with this type of findings as regards to competitive or intense sport practice.
  The objective of the study is to evaluate the clinical outcome of athletes with isolated non-ischemic LGE with no underlying "labelled" cardiomyopathy during a five-years follow-up. The secondary objective is the determination of prognostic factors based on the baseline inclusion data: indication of CMR (i.e. symptoms, abnormal ECG, presence and morphology of arrhythmias, abnormal echocardiography); localization and amount of LGE, left and right ventricular geometry and function, characteristics of sport practice (amount, type, competition).
  The management of the athletes will be let at the appraisal of each centre, as regards to the initial assessment, the follow-up and the medical clearance for competitive sports participation. Nevertheless, due to the absence of consensus, we propose that the patient should at least undergo clinical examination, ECG, echocardiography, cardiopulmonary exercise test (CPET) and holter ECG each year. A CMR should be performed at one and five years.

Eligibility: Inclusion Criteria:
  -  Any athlete, aged of more than 15 years, symptomatic or not,
  -  in whom non-ischemic LGE with no underlying "labelled" cardiomyopathy is detected on CMR. Scare of an acute myocarditis will also be included.
  Athletes will be defined by a practice of ≥4 hours/week of sport activity and/or competitive sport activity at the time of the assessment which triggered the realization of the 1st CMR.
  Exclusion Criteria:
  -  Athletes with any unequivocal cardiac disease that might explain the LGE (i.e. hypertrophic cardiomyopathy, ischemic cardiac disease). In case of borderline or doubtful diagnosis the athlete can still be included (for example an athlete with a dilated LV and borderline function, or with borderline wall thickness).
  -  Patients who refuse their participation in the study.
  -  Patients under legal protection or deprived of their liberty.

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)

Summary: Charcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory compromise and premature death with no available treatment.
  The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CMT4J. This natural history study is important to better understand disease course to be able to determine clinically meaningful outcome measures for use in future clinical trials.

Detailed description: Charcot-Marie-Tooth (CMT) diseases are the most common inherited motor and sensory neuropathies, composed of a group of pathologically and genetically distinct subtypes ranging from slowly to rapidly progressive disease.
  CMT4J is a rare subtype of CMT caused by mutations in the FIG4 gene. Pediatric-onset disease can often be characterized by rapid progression of muscle weakness and atrophy, culminating in loss of ambulation and respiratory compromise and premature death. Adult-onset CMT4J can present with a more variable disease course.
  No prospective natural history study for CMT4J has been reported. This study aims to prospectively investigate the natural history of CMT4J, and concurrently to identify potential outcome measures that could be used in future clinical trials. No investigational product will be provided in the study.

Eligibility: Inclusion Criteria:
  -  Participants must have a diagnosis of CMT4J based on clinical presentation and genetic testing (known or suspected pathogenic mutation in FIG4 gene).
  Exclusion Criteria:
  -  Patients unable to travel to UT Southwestern Medical Center and Children's Health Dallas will not be enrolled in the prospective natural history study collecting standardized clinical data; however, with participant consent, medical records will be obtained, reviewed, and recorded in the natural history database over time.

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: The Deep Phenotype of Lamin A/C Cardiomyopathy

Summary: This study seeks to discover clinically useful tests to improve the diagnosis of a rare and serious heart muscle disease caused by mutations in a gene called 'Lamin'.
  Patients born with lamin gene mutations have apparently healthy hearts initially, they begin experiencing symptoms in their twenties or thirties, and by age 45 the majority have undergone a heart transplant, experienced a major cardiac complication, or have died. Sudden heart rhythm abnormalities are a major cause of sudden death so earlier diagnosis can save lives by enabling timely treatment or implantation of specialised pacemakers (defibrillators). In clinical practice, diagnosis of lamin heart disease currently relies on the genetic test. Very little is known about the detailed imaging features of the hearts of patients with lamin heart disease although advanced echocardiography and cardiac MRI now offer the opportunity to study the health of the heart without the need for radiation.

Detailed description: -  Research participants will undergo resting 12-lead ECG, 24-hour ambulatory ECG, baseline echocardiography, exercise echocardiography, cardiac MRI scan.
  -  Blood samples will be collected in all participants from both centers for immediate laboratory testing.
  -  Blood and urine samples will be collected in all participants and used for metabolomic, proteomic and lipidomic profiling and for targeted metabolite and enzyme analysis.
  -  Blood samples will be collected in all participants for future gene code analysis (DNA / RNA).

Eligibility: Inclusion Criteria:
  -  LMNA+ cases with pathogenic LMNA mutations for LMNA+ and heart myocardial samples from the explanted hearts of LMNA+ patients who are scheduled to undergo clinically indicated heart transplantation at the Papworth Hospital NHS Trust.
  -  DCMWT cases: patients with heart muscle failure but with wild-type lamin gene. Heart myocardial samples from the explanted hearts of DCMWT patients who are scheduled to undergo clinically indicated heart transplantation at the Papworth Hospital NHS Trust.
  -  HV (controls): matched to cases.
  Exclusion Criteria:
  -  Needle-phobia that would preclude blood-letting
  -  Participants unwilling to consent
  -  Patients that have a conventional contraindication for cardiac magnetic resonance imaging (MRI).
  -  Patients that have had a blood transfusion within the last month and patients having haemodialysis will be excluded.

Relevance to patient case: definitely relevant