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

Clinical trial: Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells

Summary: Medical researchers of National Heart Centre Singapore will carry out a state-of-the-art study that examines the possibility of changing patients' own cells into multi-functional and potent stem cells called iPS cells. These iPS cells can subsequently give rise to functional cardiac cells (myocytes) and other cardiovascular cells which might give further clues into the manifestation of the structural heart disease. This study involves blood sample collection for pre-screening and skin biopsies to establish skin cell culture.

Detailed description: Participants are invited to participate in this study because they have been diagnosed with Marfan's syndrome whereby a gene mutation is suspected to have affected major blood vessel of their heart or have a Fontan procedure that was carried out to re-direct blood flow in their heart. This study will recruit 30 subjects from National Heart Centre Singapore over a period of 1 year.
  For clinically diagnosed Marfan disease, a genetic test in a gene called FBN1 will be carried out to confirm the presence of gene mutation that is suspected to cause the disease. It is important for them to know that any research finding that indicates the presence of this gene mutation may only suggest a pre-disposition to Marfan disease, but it does not definitely ascertain that gene has caused the disease or predict that they will develop the disease. Further independent clinical genetic testing may be made available, should they so desire after consulting their doctor or genetic counsellor.
  The skin obtained during the course of this study will be used for this study only and will be stored and analysed for the purposes of this study only, for a period not exceeding 5 years for research studies and experimental transplant studies, and will be destroyed after completion of the study, unless they agree to donate the samples to National Heart Centre Singapore for continuous storage for future studies that are approved by Institutional review board. The blood will however be stored indefinitely in National Heart Centre for future research on molecular, imaging and outcome studies of cardiovascular health and disease.

Eligibility: Inclusion Criteria:
  -  Patient that are under the care of the cardiologist and diagnosed with Marfan's syndrome or who had underwent Fontan palliation
  Exclusion Criteria:
  -  No

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

Clinical trial: RelayPro Thoracic Stent-Graft in Subjects With Thoracic Aortic Aneurysms and Penetrating Atherosclerotic Ulcers

Summary: Investigate the safety and effectiveness of the RelayPro Thoracic Stent-Grafts in subjects with thoracic aortic aneurysms (TAA) and penetrating atherosclerotic ulcers (PAU) of the descending thoracic aorta.

Detailed description: The objective of this study is to investigate the safety and effectiveness of the RelayPro Thoracic Stent-Grafts in subjects with thoracic aortic aneurysms and penetrating atherosclerotic ulcers of the descending thoracic aorta.

Eligibility: Inclusion Criteria:
  -  Subject must be ≥ 18 years of age
  -  Subject has specified disease in his/her descending thoracic aorta.
  -  Subject have anatomical compliance for the device specified for both access vessels and treatment area.
  -  Subject must be willing to comply with the follow-up evaluation schedule.
  -  Subject (or Legally Authorized Representative) agrees an Informed Consent Form prior to treatment.
  Exclusion Criteria:
  -  Subject has specified disease of the thoracic aorta which is not included in the trial, for example: aortic dissection, intramural hematoma, traumatic injury or transection, aortic false aneurysm, ruptured aneurysm.
  -  Subject anatomy with significant stenosis, calcification, thrombus or tortuosity.
  -  Subjects with specified compromised circulation.
  -  Subjects with specified prior procedures.
  -  Subjects with allergy to contrast media or device components.
  -  Subjects with disease, for example: suspected connective tissue disorder, specified coagulation disorders, specified coronary artery disease, severe congestive heart failure, stroke and/or Myocardial Infarction (MI) as specified, specified pulmonary disease, specified renal failure.
  -  Subjects that are pregnant or planning to become pregnant during the course of the study.

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

Clinical trial: An Open-label Drug-Drug Interaction Study to Evaluate the Effect of BCX7353 on Cytochrome P450 Enzyme Activity Using Probe Substrates

Summary: This is an open-label, single sequence study to evaluate the effect of BCX7353 on hepatic and intestinal cytochrome P450 enzymes using probe substrate drugs in healthy subjects. Pharmacokinetics of the probe substrate drugs will be measured prior to and following administration of multiple doses of BCX7353.

Detailed description: This is a single centre, single sequence, open-label, study to evaluate the effect of BCX7353 on hepatic and intestinal cytochrome P450 (CYP) 3A4 (midazolam IV and PO, respectively), CYP2C9 (tolbutamide), CYP2C19 (omeprazole) and CYP2D6 (dextromethorphan) enzyme activity using probe substrate drugs in healthy subjects. Pharmacokinetics of the probe substrate drugs will be measured prior to and following administration of multiple doses of BCX7353.
  Twenty healthy male and female subjects are planned for dosing.
  Each subject will receive the following treatments:
  Day 1: 1 mg midazolam will be administered as an IV bolus simultaneously to administration of 500 mg tolbutamide, 40 mg omeprazole, and 30 mg dextromethorphan orally.
  Day 2: a single oral dose of 2 mg midazolam. Days 3 to 9: 350 mg BCX7353 once a day. Day 10: 1 mg midazolam will be administered as an IV bolus simultaneously to administration of 500 mg tolbutamide, 40 mg omeprazole, 30 mg dextromethorphan and 350 mg BCX7353, orally.
  Day 11: a single oral dose of 2 mg of midazolam along with 350 mg BCX7353.

Eligibility: Key Inclusion Criteria:
  -  Written informed consent
  -  Body mass index 18 to 32 kg/m2
  -  Abides by study restrictions
  -  Attends all study visits and agrees to remain in study center for the confinement period
  -  Acceptable birth control measures for male subjects and women of childbearing potential
  Key Exclusion Criteria:
  -  Clinically significant medical history, current medical or psychiatric condition. This includes a history of clinically significant gastrointestinal, hematologic, renal, hepatic, bronchopulmonary, neurological, or cardiac disease
  -  Clinically significant ECG finding, vital sign measurement or laboratory/urinalysis abnormality at screening or baseline
  -  Poor or ultra- metabolizers of CYP2C19 or CYP2D6 Use of over the counter or prescription medication within 14 days of dosing and anticipated use through the follow-up visit
  -  Use of medication or consumption of any substance that is known to inhibit or induce metabolic enzymes or transporters within 30 days of dosing
  -  Participation in any other investigational drug study within 90 days of screening
  -  Recent or current history of alcohol or drug abuse
  -  Regular recent use of tobacco or nicotine products
  -  Positive serology for HBV, HCV, or HIV
  -  Pregnant or nursing
  -  Donation or loss of greater than 400 mL of blood within 3 months
  -  Serious adverse reaction or serious hypersensitivity to any drug

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

Clinical trial: Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and Dissection

Summary: Mortality of thoracic aortic aneurysm and dissection (TAAD) remains high because of the huge blood lost from the aorta. Questions about the potentially genetic effects on sporadic TAAD are raised by researchers to explore the possible mechanisms leading to sporadic TAAD and to establish new clinical approaches to prevent TAAD-caused adverse clinical outcomes. This study is intended to collect the gene information in sporadic TAAD patients and to explore the relationship between genetic variation and the incidence of sporadic TAAD for further study.

Detailed description: Thoracic aortic dissection (TAD) is a critical clinical condition partly due to the rupture of aortic aneurysm. Mostly, surgical treatment can reduce the symptoms and extend life span of patients with thoracic aortic aneurysm and dissection (TAAD). However, mortality of TAAD remains high because of the huge blood lost from the aorta. Sporadic TAAD was considered to be a server consequence of hypertension, though most patients with hypertension won't have TAAD as their final outcomes. Previous studies have revealed the associations between genetic abnormalities and familial TAAD, and genetic tests have applied to assist the diagnosis of certain TAAD. Therefore, the potentially genetic effects on sporadic TAAD are explored by researchers to understand the possible mechanisms leading to sporadic TAAD and to establish new clinical approaches to prevent TAAD-caused adverse clinical outcomes. This study is intended to collect the gene information in sporadic TAAD patients and to explore the relationship between genetic variation and the incidence of sporadic TAAD for further study.

Eligibility: Inclusion Criteria:
  -  Patients with thoracic aortic aneurysm and dissection not due to trauma
  Exclusion Criteria:
  -  Inability of the patient, parent or guardian to give consent
  -  Unwillingness to provide a blood specimen or participate in the study

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

Clinical trial: Abdominal Compartment Syndrome and Ruptured Aortic Aneurysm : Validation of a Predictive Test

Summary: It is an observational study on ruptured abdominal aortic aneurysm and abdominal compartment syndrome.
  the aim of this study is to assess the qualities of a predictive score on the occurence of this syndrome after surgery of ruptured aortic aneurysm

Detailed description: Despite improved management techniques of ruptured abdominal aortic aneurysm, especially in vascular surgery, the mortality rate has not decreased these last years.
  The abdominal compartment syndrome (ACS) has been clearly identified as one of the main etiologies of mortality after ruptured aortic aneurysm. The mortality grow up with ACS in this population.
  So, the investigators want to screen abdominal compartment syndrome in the operative room.
  It is an observational study on ruptured abdominal aortic aneurysm and abdominal compartment syndrome.
  the aim of this study is to assess the qualities of a predictive score on the occurence of this syndrome after surgery of ruptured aortic aneurysm
  Later the aim of a future study will be to screen ACS and manage patient as soon as possible to avoid it.

Eligibility: Inclusion Criteria:
  -  over 18
  -  to be hospitalized in participating hospitals
  -  ruptured aneurysm confirmed and operated
  Exclusion Criteria:
  -  pregnancy
  -  patients with bladder tumor or bladder surgery or trauma bladder can distort bladder pressure measurement
  -  cystectomy
  -  patients died before arrival in the operating room
  -  patients died during surgery or within one hour of the initial surgical procedure
  -  patient whose abdominal closure at the end of the procedure is impossible

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

Clinical trial: UVA Brain and Aortic Aneurysm Study

Summary: The purpose of this study is to examine the percentage of patients who present with abdominal aortic aneurysms (AAA) will also have intracranial aneurysms (IA) and conversely; to examine the percentage of patients who present with intracranial aneurysms will also have abdominal aortic aneurysms.

Detailed description: The investigators have previously generated estimates for cost effectiveness of each arm of this reciprocal screening protocol based on literature dervied estimates of coprevalence and other key factors in a decision tree model to compare costs and outcomes. They measured expected outcomes using quality-adjusted life years (QALY) and the incremental cost-effectiveness ratios (ICER). The current study will involve establishment of the true co-prevalence and recalculation of the ICERs and QALYs. Based on their literature derived models we previously found an ICER of $34.01/QALY for AAA screening in IA patients and an ICER of $6,401.91/QALY for IA screening in AAA patients. Both of these are well below the societal accepted threshold of $60,000/QALY. However, both models were sensitive to co-prevalence. In the current study the investigators will therefore determine the actual cost-effectiveness of performing additional radiographic procedures and genetic counseling. The investigators will also bank DNA and RNA for future research.

Eligibility: Inclusion Criteria:
  -  Age 18 years or older
  -  Clinical and radiographic diagnosis of either abdominal aortic aneurysm (AAA) or intracranial cerebral aneurysm (IA). Aneurysm may be symptomatic (s/p rupture or mass effect) or asymptomatic (detected as part of screening or incidentally discovered. Aneurysms int he brain may be multiple. AAA will be defined as >= 3 cm by any imaging modality. IA will be defined as >= 3 mm on any imaging modality.
  -  Able to provide a valid informed consent (self or legally authorized representative)
  Exclusion Criteria:
  -  Contra-indication for MRI/A (embedded metal, intractable claustrophobia, pacemaker, etc.)
  -  Intracranial aneurysm associated with arteriovenous malformation
  -  Clinical or radiographic diagnosis of mycotic aneurysm
  -  Substantial pre-existing neurological or psychiatric illness that would confound neurological assessment or other outcome assessment.
  -  Other serious conditions that make the patient unlikely to survive long enough to benefit from the screening program.
  -  Inability to follow the protocol or return for screening test or genetic counseling.
  -  Unwilling to have reports from imaging and genetic counselor sent to a clinician (PCP, testing surgeon, etc)
  Note: Pregnancy is not a reason to exclude, but imaging done for the study will be postponed until after the subject has given birth.

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

Clinical trial: Measurement of Maximum Diameter of Native Abdominal Aortic Aneurysm by Angio-CT

Summary: Screening for an abdominal aortic aneurysm, monitoring its growth and evaluation of its risk of rupture are based on the measure of its maximum diameter. The abdominal aortic aneurysm's treatment to prevent its rupture is recommended from a threshold of 50-55 mm in men and of 45-50 mm in women.
  The importance of this measure for patient management justify a specific and homogeneous protocol of measure. However, the diversity of methods of measuring the maximum diameter with scanner and ultrasound was shown.
  The impact of various angio-CT based measures of maximum AAA diameter, and the impact of reproducibility limits on the decision to operate have never been investigated.

Detailed description: The aims of the study were :
  Analyze the consequences on clinical decisions of this wide choice of methodologies for measurement of abdominal aortic aneurysm maximum diameter when using angio-CT; Identify the method of measurement that yields the best agreement for patient management.

Eligibility: Inclusion Criteria:
  -  patients with abdominal aortic aneurysm
  Exclusion Criteria:
  -  inflammatory aneurysm
  -  false aneurysm
  -  aneurysm after open repair or stent graft

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

Clinical trial: Endovascular Aneurysm Repair (EVAR) Gate Study

Summary: This study will evaluate a randomized comparison of direct versus snare techniques for cannulation of contralateral gate during an endovascular aneurysm repair (EVAR) procedure.
  This information will be used to determine if primary snaring is superior to retrograde cannulation in decreasing procedural time and radiation exposure.

Detailed description: Endografts currently FDA-approved for abdominal aortic aneurysm (AAA) repair are modular systems,comprised of a main body (Aortic Trunk) and two legs (Ipsilateral Leg Endoprosthesis and a contralateral leg endoprosthesis). In placement of the endograft the main body and ipsilateral limb are deployed from a retrograde common femoral artery approach. From the contralateral femoral artery, cannulation of the contralateral gate is required to deploy the contralateral iliac limb.Cannulation of the contralateral limb gate is the portion of the operation that requires the most "wire skills." Depending on the patients' body type, angulations of the aorta and the size and volume of the AAA, this portion of the procedure can be technically difficult. This portion may become lengthy and discouraging if the surgeon fails to cannulate the gate using a particular approach. Cannulation of the contralateral limb gate from a retrograde femoral artery approach is commonly achieved by first using a maneuverable guidewire and steerable catheter. Antegrade or crossover cannulation involves passing a guidewire from the ipsilateral limb to the contralateral limb gate of the endograft, which can be accomplished with a curved catheter. The wire may be retrieved on the contralateral limb using a snare device. The problem and why it is important -- difficulty in accessing the contralateral gate leads to increase procedural time and excess exposure to radiation. The standard of care is retrograde cannulation with the use of crossover snare techniques as a secondary adjunct if retrograde cannulation fails. In this study we will compare retrograde cannulation to primary snaring.

Eligibility: Inclusion Criteria:
  -  Age ≥ 18
  -  Patient is undergoing EVAR repair with a commercially available endograft
  -  Willing to give consent
  -  Procedure is Elective
  Exclusion Criteria:
  -  Declines to participate
  -  Unable to provide consent
  -  Urgent AAA repair
  -  Participating in another study

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

Clinical trial: Expanding Patient Applicability With Polymer Sealing Ovation Alto Stent Graft IDE (Investigational Device Exemption) Study

Summary: A prospective clinical evaluation of the effectiveness of the Ovation Alto Abdominal Stent Graft System when used in the treatment of subjects with abdominal aortic aneurysm (AAA).

Detailed description: A prospective clinical evaluation of the effectiveness of the Ovation Alto Abdominal Stent Graft System when used in the treatment of subjects with abdominal aortic aneurysm (AAA). The primary objective is to evaluate treatment success at 12 months with the Ovation Alto Abdominal Stent Graft system. The study will have up to 16 sites, and up to 75 patients based on attrition rates. The follow-up intervals will be at 1, 6, and 12 months following initial implant procedure.

Eligibility: Inclusion Criteria include:
  1. Patient has adequate iliac/femoral access compatible with the required delivery systems.
  2. Patient has non-aneurysmal proximal aortic neck.
  3. Patient has non-aneurysmal distal iliac landing zone.
  Exclusion Criteria include:
  1. Patient has dissecting aneurysm.
  2. Patient has acutely ruptured aneurysm.
  3. Patient has need for emergent surgery.

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

Clinical trial: The PARTNER 3 - AVIV Trial

Summary: To assess the safety and effectiveness of the SAPIEN 3 (Edwards Lifesciences, Irvine, California) transcatheter heart valve in patients with a failing aortic bioprosthetic valve.

Detailed description: A prospective, single-arm, multicenter clinical trial. The trial will enroll patients with a failing surgical or transcatheter bioprosthetic valve in the aortic position demonstrating stenosis and/or insufficiency.

Eligibility: Inclusion Criteria:
  1. Failing surgical or transcatheter bioprosthetic valve in the aortic position demonstrating ≥ moderate stenosis and/or ≥ moderate insufficiency.
  2. Bioprosthetic valve with an internal orifice diameter of 16 mm to 27 mm.
  3. NYHA Functional Class ≥ II.
  4. Heart Team agrees valve implantation will likely benefit the patient.
  5. The study patient has been informed of the nature of the study, agrees to its provisions and has provided written informed consent as approved by the Institutional Review Board (IRB) of the respective clinical site.
  Exclusion Criteria:
  1. Surgical or transcatheter valve in the mitral position (mitral rings are not an exclusion).
  2. Severe regurgitation (>3+) or stenosis of any other valve.
  3. Failing valve has paravalvular regurgitation (includes those instances that have been previously treated with a plug due to paravalvular regurgitation).
  4. Failing valve is unstable, rocking, or not structurally intact.
  5. Increased risk of coronary obstruction by prosthetic leaflets of the failing valve.
  6. Increased risk of embolization of THV (e.g., surgical valve that is non-stented and non-calcified).
  7. Known bioprosthetic valve with residual mean gradient >20 mmHg at the end of the index procedure for implantation of the original valve.

Relevance to patient case: not relevant