araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Biomarkers in Vascular Ehlers-Danlos Syndrome

Summary: The purpose of this study is to determine whether patients with vascular Ehlers-Danlos syndrome present significant and specific changes of arterial endothelial and smooth muscular cell signalling/secretion, in comparison to matched healthy volunteers and patients with spontaneous arterial dissections.

Detailed description: Vascular Ehlers-Danlos syndrome is a rare inherited disease which confers exceptional organ fragility in seamingly healthy young adults. The disease is caused by a mutation in the COL3A1 gene encoding type III collagen, critical to ensure physical resistance to mechanical stress of hollow organs. The disease results in increased tissular fragility, responsible of spontaneous arterial ruptures and dissections and spontaneous bowel perforations. The life-expectancy of patients with vascular Ehlers-Danlos syndrome is reduced by these recurring accidents. The exact mechanisms that trigger arterial accidents are unknown. Recent findings suggest a possible deleterious effect of inflammation and a possible dysregulation of the TGF-beta pathway. Thus, the purpose of this study is to identify further alterations in vascular endothelial and smooth muscular cell signalling/secretion, and to confirm previously suggested mechanisms of arterial accidents in vEDS patients.

Eligibility: Inclusion Criteria:
  -  Patients with vascular Ehlers-Danlos syndrome must have been positively tested for a pathogenic mutation within the COL3A1 gene.
  -  In patients with arterial dissection(s) any associated systemic arterial disease must have been ruled out, especially vascular Ehers-Danlos syndrome
  Exclusion Criteria:
  -All subjects must not present any chronic systemic disease, any acute disease within seven days prior to enrollment, diabetes mellitus and arterial hypertension.

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Study of Polymorphisms of RAAS and MMPs in Acute Heart Failure

Summary: this study aim to investigate the:
  -  association of RAAS polymorphisms and AHF
  -  association of MMP 3 and 12 polymorphisms and AHF

Detailed description: Heart failure can be defined as a complex clinical syndrome that results from any structural or functional disorder of the heart, with impairment of ability to fill the ventricles or eject blood. The main event of the IC is dyspnea and fatigue, which limit exercise tolerance and induces water retention.
  The renin angiotensin aldosterone system governs the salt and water homeostasis in the body. Renin is a proteolytic enzyme secreted by the juxtaglomerular apparatus of the kidney (area near the glomeruli). Renin has no direct action on the organism, but that is part of the renin-angiotensin system or the renin-angiotensin-aldosterone system is known.
  To date, few published studies have examined the association between the polymorphism AGT M235T * and cardiac dysfunction; and available results are contradictory. What is not known yet is the ratio of this polymorphism with the prognosis of heart failure.

Eligibility: Inclusion Criteria:
  -  aged more than 18 year old.
  -  acute non traumatic dyspnea .
  Exclusion Criteria:
  -  ECG diagnostic for acute myocardial infarction or ischemic chest pain within the prior 24 hours
  -  a history of a heart transplant, pericardial effusion, chest wall deformity suspected of causing dyspnea
  -  coma, shock,MV,vasopressor drugs
  -  arrhythmia serious and sustained,
  -  pace maker
  -  severe mitral valve disease,

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Screening Cardiovascular Patients for Aortic aNeurysms (SCAN)

Summary: The aim of the cohort study SCAN (Screening Cardiovascular patients for Aortic aNeurysms) is to establish a screening programm for patients with a high risk for an AAA. Aortic aneurysms in these patients should be identified at an early stage and thereby AAA-associated mortality be decreased.

Detailed description: A recently published meta-analysis showed a higher prevalence of aortic aneurysm (AAA) in men requiring treatment of coronary heart disaese compared to standard population. In women, however, the prevalence was not increased. Thus, the SCAN project addresses male patients who underwent coronary artery intervention in order to screen them for the presence of an AAA using duplex sonography.
  The SCAN project involves the following elements:
  1. Informing the patient with cardiovascular risk factors about the clinical picture of AAA
  2. An ultrasound scan of the abdominal aorta in patients with an increased risk for AAA
  3. Acquisition of patient data followed by a correlation analysis for the parameters presence of AAA and cardiovascular diseases
  The cohort study is part of the SCAN project which is also conducted in an similar way by Catharina Ziekenhuis Eindhoven ClinicalTrials.gov Identifier:NCT01643317.

Eligibility: Inclusion Criteria:
  -  men with coronary artery intervention (PTCA/stenting)
  -  at least 1 risk factor for AAA (hypertension, hyperlipidaemia, hyperuricemia, nicotine abuse,positive family history)
  Exclusion Criteria:
  -  life expectancy less than 1 year
  -  inability to follow the instructions of the investigator (dementia, lack of time, insufficient understanding of the language)
  -  insufficient compliance

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Comparison of the Effects of Open and Endovascular Aortic Aneurysm Repair on Long-term Renal Function

Summary: Compare the renal complication of endovascular and open repair of acute aortic dissection by including patient treated at NTUH in 2010~2013.


Eligibility: Patient underwent endovascular and open repair of aortic aneurysm at NTUH in 2010~2013 Age > 20 years old

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Cyclosporine A in Patients With Small Diameter Abdominal Aortic Aneurysms

Summary: Aneurysms of the aorta are dilatations of the main artery in the body that distributes blood to organs. Aneurysms expose patients to aortic rupture. The risk of aortic rupture is high for large aneurysms, and low for small aneurysms. Currently, if the diameter of a small aneurysm grows up to a level at risk for rupture, surgery is indicated to prevent rupture. A drug that would stop growth of small aneurysms would obviate aortic surgery, the current treatment to prevent aortic rupture in patients. The ACA4 study aims at testing the possibility to stop growth of small aortic aneurysms in the abdomen with a drug, cyclosporine A. Patients with small aneurysms will receive cyclosporine A orally, or a placebo (fake liquid), every day during a short period of time. Efficacy of the drug will be evaluated by measuring the diameter of the aneurysm during 2 years after treatment cessation. Drug safety analysis will evaluate the impact of the drug on renal function, blood pressure, and other parameters. In case of adverse event during the drug administration phase, dose of the drug or of the placebo will be decreased or administration stopped.

Detailed description: Abdominal aortic aneurysms (AAAs) expose patients to death caused by aortic rupture. Although screening of AAAs has been shown to decrease AAA-related mortality, translation into medical practice of screening is limited because there is no specific treatment to limit growth of AAAs below diameter thresholds for open surgery or stent graft. We have developed different approaches aimed at inducing healing and thereby stabilizing formed AAAs in animal models. We have identified TGF-beat1 as an inducer of experimental AAA healing. Cyclosporine A is an inducer of tumor growth factor - beta1 (TGF-beta1) in experimental AAAs and in human atherosclerotic AAAs in vitro, causing overgrowth of inflamed tissues. Since AAAs are caused by aortic wall atrophy, we have hypothesised and confirmed in animals, that cyclosporine AAA, when administrated during a short period of time, durably stabilizes small AAA diameter in animals, while inducing aortic wall reconstruction and healing.
  The clinical trial ACA4 is a multicentric randomized, placebo controlled, double blind trial that will enrol 360 patients with small AAAs in France. Two doses of cyclosporine A will be tested against a placebo (three arms). Drug administration will be short, and AAA diameter evaluation will be performed for 2 years, by CT-scanner (main outcome) with no contrast, and duplex-scanner.

Eligibility: Inclusion Criteria:
  -  Male patients with asymptomatic AAA ≥ 30 mm, ≤ 49 mm
  -  Female patients with asymptomatic AAA ≥ 25 mm, ≤ 44 mm
  Exclusion Criteria:
  -  Common iliac aneurysm > 25 mm
  -  Saccular aneurysm of the aorta
  -  Inflammatory aneurysm
  -  No signature of informed consent
  -  Renal dysfunction
  -  Diabetes

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation

Summary: At present, a variety of antithrombotic regimens are prescribed in the early postprocedure period after transcatheter aortic valve implantation (TAVI). Dual antiplatelet therapy (DAPT) using aspirin and a thienopyridine in the initial period after TAVI is the recommended strategy; however, mono antiplatelet therapy using aspirin is suggested not to be inferior. In patients with atrial fibrillation (AF) or another indication for oral anticoagulation (OAC), no recommendations on best treatment regimen currently exist although triple therapy (OAC + DAPT) is best avoided due to increased bleeding risk.
  We hypothesise that the omission of clopidogrel in the first 3 months after TAVI is safer and not less beneficial than the addition of clopidogrel to aspirin (cohort A) or OAC (cohort B).

Detailed description: The trial consists of two cohorts:
  -  Cohort A, patients without an indication for OAC prior to TAVI.
  -  Cohort B, patients with an indication for OAC prior to TAVI (eg. atrial fibrillation, mechanic mitral valve prosthesis).

Eligibility: Inclusion Criteria:
  -  Cohort A
  1. Patient has provided written informed consent.
  -  Cohort B
  1. Need for long-term oral anticoagulation;
  2. Patient has provided written informed consent.
  Exclusion Criteria:
  -  Cohort A
  1. Need for long-term oral anticoagulation;
  2. Drug-eluting stent implantation within 3 months prior to TAVI procedure;
  3. Bare-metal stent implantation within 1 month prior to TAVI procedure;
  4. Allergy or intolerance to aspirin or clopidogrel.
  -  Cohort B
  1. Drug-eluting stent implantation within 3 months prior to TAVI procedure;
  2. Bare-metal stent implantation within 1 month prior to TAVI procedure;
  3. Allergy or intolerance to (N)OAC or clopidogrel.

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm

Summary: The primary objectives of the study are
  -  to assess the contribution of alteration of each known gene on non-syndromic TAA.
  -  to map and identify unknown gene involved in the non-syndromic TAA.

Detailed description: The secondary objectives of the study are
  -  to study the correlation of phenotype-genotype, in particular, to compare the aortic phenotype of non-syndromic TAA patients and TAA syndromic patients.
  -  to develop national standardized strategies of genetic diagnosis and of clinical management using genetic data.

Eligibility: Inclusion Criteria:
  For all:
  -  Aged > 18 years.
  -  Written informed consent obtained.
  -  People with health insurance.
  For individual:
  -  people ≥ 45 years, thoracic aortic aneurysm without syndrome,
  -  or people > 45 years with familial TAA.
  For family:
  -  At least 2 members of family in 2 generations have TAA without syndrome and at least 2 patients of TAA will undergo blood collection.
  -  All people in family will undergo blood collection, each member should declare at first his (her) status (with or without TAA, unknown), the relationship (direct relative family or family in-law), no limit of age. For the children, only those with TAA will perform blood collection for the study.
  Exclusion Criteria:
  -  Thoracic aortic aneurysm with different syndromes (Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, Noonan syndrome).
  -  Arterial hypertension.

Relevance to patient case: definitely relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Thoracoabdominal Arortic CTA Study

Summary: The purpose of this study is to compare the contrast agents and imaging techniques used for thoracoabdominal aortic imaging in CT. Imaging parameters and contrast volume are changed and adjusted based on the contrast agent, since contrast agents have varying iodine concentrations. If the contrast iodine concentration is higher, it may be possible to adjust the imaging parameters and lower the overall radiation dose to the patient.


Eligibility: Inclusion Criteria:
  -  Patients undergoing thoracoabdominal aortic (TAA) CTA
  -  Able to provide informed consent
  -  Body Mass Index (BMI) equal to or less than 30
  Exclusion Criteria:
  -  Creatinine greater than 2.0
  -  Allergy to contrast media
  -  Pregnant women

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Cardiovascular Health Improvement Project

Summary: The goal of this project is to establish a biobank of clinical information, DNA, plasma, and aortic tissue samples from patients with cardiovascular disease as well as healthy controls.

Detailed description: The goal of this project is to establish a biobank of clinical information, DNA, plasma, and aortic tissue samples from patients with cardiovascular disease as well as healthy controls. The aims of the study are to collect biological specimens (blood, plasma, serum, aortic tissue) and family history; establish a biobank, establish a comprehensive database with information from consented patients, and provide researchers with high quality well annotated DNA samples with demographic and clinical information.

Eligibility: Inclusion Criteria:
  -  Any patient over the age of 18 who is able/willing to give informed consent
  -  Patients <18 years of age with parental consent and assent (if assent is applicable for their age)
  -  Diagnosis of:
  -  aortic pathology potentially due to a known or suspected inherited condition
  -  Idiopathic aortic aneurysm
  -  Interesting of novel vascular pathology in the aorta or main branches
  -  Family history of aortic or vascular disease
  -  Other cardiovascular disease
  -  Healthy controls with no apparent cardiovascular disease
  Exclusion Criteria:
  - Not willing or able to sign the consent

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Zenith® p-Branch® Endovascular Graft Pivotal Study

Summary: The Zenith® p-Branch® Pivotal Study is a clinical trial approved by FDA to study the safety and effectiveness of the Zenith® p-Branch® endovascular graft in combination with the Atrium iCAST™ covered stents in the treatment of abdominal aortic aneurysms.


Eligibility: Inclusion Criteria:
  -  Pararenal or juxtarenal AAA ≥5.0 cm in diameter or 2 times the normal aortic diameter
  -  Pararenal or juxtarenal AAA with history of growth ≥0.5 cm/year
  -  Saccular aneurysm with aortic diameter greater than 1.5 times the normal aortic diameter that is deemed to be at risk for rupture based upon physician interpretation
  Exclusion Criteria:
  -  Age <18 years
  -  Life expectancy <2 years
  -  Pregnant, breast-feeding, or planning on becoming pregnant within 60 months
  -  Inability or refusal to give informed consent by the patient or a legally authorized representative
  -  Unwilling or unable to comply with the follow-up schedule
  -  Simultaneously participating in another investigative device or drug study. (The patient must have completed the primary endpoint of any previous study at least 30 days prior to enrollment in this study.)
  -  Additional medical restrictions as specified in the Clinical Investigation Plan
  -  Additional anatomical restrictions as specified in the Clinical Investigation Plan

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Predicting Rupture of Abdominal Aortic Aneurysm (AAA) by Anatomic and Hemodynamic Markers From In-vivo and In-vitro Imaging.

Summary: The purpose of the study is to investigate imaging findings, which can help us to predict factors contributing to abdominal aortic aneurysm growth and rupture.


Eligibility: Inclusion Criteria:
  -  Individuals between 18 and 80 years old receiving medical care at University of Minnesota Medical Center who have a normal aorta CTA within the previous year
  -  Or patients with known AAA with growth rate of 0-0.2 cm/year
  -  Or patients with known AAA with growth rate of greater than 0.5 cm/year.
  Exclusion Criteria:
  -  Subjects with ferromagnetic implants
  -  Penile implant
  -  Hip replacement
  -  History of shrapnel or shot gun injury
  -  Body mass index ≥ 30
  -  Cardiac pacemakers
  -  Severe claustrophobia
  -  Large tattoos on the torso

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: European (EU) Post Approval Study of the INCRAFT® AAA Stent Graft System in Subjects With Abdominal Aortic Aneurysms

Summary: INSIGHT is a postmarket clinical follow-up study in the European Union. The purpose of the study is to continue to evaluate the safety and effectiveness/performance of Incraft in subjects with abdominal aortic aneurysms requiring endovascular repair in routine clinical practice. Approximately 150 subjects will be enrolled and followed through 5-years postprocedure. Up to 25 sites in Europe may participate.

Detailed description: INSIGHT is a postmarket clinical follow-up study in the European Union. The purpose of the study is to continue to evaluate the safety and effectiveness/performance of Incraft in subjects with abdominal aortic aneurysms requiring endovascular repair in routine clinical practice. Approximately 150 subjects will be enrolled and followed through 5-years postprocedure. Up to 25 sites in Europe may participate. Subjects will be enrolled and followed at 1 month and 6 month post-procedure and annually up to 5 years.

Eligibility: Inclusion Criteria:
  1. Male or Female age 18 years or older
  2. Femoral access vessels should be adequate to fit the selected delivery system
  3. Proximal neck length ≥ 10mm
  4. Aortic neck diameters ≥ 17mm and ≤ 31mm
  5. Aortic neck suitable for suprarenal fixation
  6. Infrarenal and suprarenal neck angulation ≤ 60°
  7. Iliac fixation length ≥ 15mm
  8. Iliac diameters ≥ 7mm and ≤ 22mm
  9. Minimum overall AAA treatment length (proximal landing location to distal landing location) ≥ 128mm
  10. Morphology suitable for aneurysm repair
  11. Provide written informed consent and as applicable written confidentiality authorization prior to initiation of study procedures
  12. Subject is willing to comply with the specified follow-up evaluation schedule
  Exclusion Criteria:
  1. Subject has one of the following:
  1. Aneurysm sac rupture or leaking abdominal aortic aneurysm
  2. Mycotic, dissecting, or inflammatory abdominal aortic aneurysm
  2. Known allergy or intolerance to nickel titanium (nitinol), Polyethylene terephthalate (PET), or polytetrafluoroethylene (PTFE)
  3. Known contraindication to undergoing angiography or anticoagulation
  4. Existing AAA surgical graft and/or a AAA stent-graft system
  5. Women of child bearing potential whom are pregnant, lactating, or planning to become pregnant during the course of the trial

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: E-tegra Stent Graft System in the Treatment of Infra-renal Abdominal Aortic Aneurysms

Summary: The purpose of this study is to evaluate clinical and technical success as well as safety and feasibility of the E-tegra Stent Graft System used in endovascular treatment of infrarenal aortic aneurysm.


Eligibility: Inclusion Criteria:
  -  Patients must comply with the indications for use
  -  Patient must have an infrarenal aortic aneurysm with diameter >5cm or an infrarenal aortic aneurysm with 4 to 5cm that has increased in size by 0.5cm in the last 6 months
  -  Patient must be available for the appropriate follow-up times for the duration of the study
  -  Patient has signed the informed consent before intervention
  Exclusion Criteria:
  -  Patients with one of the contraindications as indicated in the instructions for use
  -  Patients with infectious aneurysm
  -  Patients with inflammatory aneurysm
  -  Patients with pseudoaneurysm
  -  Patients with ruptured or traumatic aneurysm
  -  Patients with suprarenal, juxtarenal, or pararenal aneurysm
  -  Patients with aortic dissection
  -  Patients with a reversed conical neck that is defined as a >3mm distal increase over a 15mm length
  -  Patients who have a congenital degenerative Collagen disease or connective tissue disorder
  -  Patients with thrombocytopenia
  -  Patients with creatinine >2.4 mg/dl immediately before the Intervention
  -  Patients with hyperthyreosis
  -  Patients with malignancy needing chemotherapy or Radiation
  -  Patients who are enrolled in another clinical study
  -  Patients with life expectancy of less than 24 months

Relevance to patient case: not relevant