Kornimate/medical-research-clean huggingface dataset:
a 24-week safety and pharmacodynamic study of at1001 (migalastat hydrochloride) in participants with fabry disease

Conditions: Fabry Disease

Summary: study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (hcl) (migalastat) in participants with fabry disease.

this was a phase 2, open-label study in male participants with fabry disease. the study consisted of a 4-week screening period, during which participants' galactosidase (gla) genotype was assessed for α-galactosidase a (α-gal a) activity in response to migalastat. participants were required to have α-gal a activity responsive to migalastat. the study consisted of a 24-week treatment period, followed by an optional 24-week extension period. participants received migalastat once every other day (qod) for 24 weeks during the treatment period and the optional 24-week extension for a total treatment duration of up to 48 weeks.

Eligibility criteria:
inclusion criteria: * males between 18 and 65 years of age (inclusive) * hemizygous for fabry disease * had a confirmed diagnosis of fabry disease with a documented missense gene mutation (individual or familial) * had enhanceable enzyme activity based on in vitro tests * had documented evidence of cardiac and/or renal dysfunction (for example, abnormal electrocardiogram (ecg), left ventricular hypertrophy, renal insufficiency) * were previously untreated by enzyme replacement therapy (ert) or substrate depletion for fabry disease, or if ert or other specific treatment for fabry disease was administered, were able to stop ert for at least 30 weeks. * were willing to undergo 2 kidney and 3 skin biopsies * agreed to be sexually abstinent or use a condom with spermicide when engaging in sexual activity during the course of the study and for a period of 30 days following completion of the study * were willing and able to sign an informed consent form exclusion criteria: * history of significant disease other than fabry disease (for example, end-stage renal disease; class iii or iv heart disease \[per the new york heart association classification\]; current diagnosis of cancer, except for basal cell carcinoma of the skin; diabetes \[unless hemoglobin a1c ≤8\]; or neurological disease that would have impaired the participant's ability to participate in the study) * history of organ transplant * serum creatinine \>176 millimole per deciliter on day -2 * screening 12-lead ecg demonstrating corrected qt interval \>450 milliseconds prior to dosing * taking a medication prohibited by the protocol: fabrazyme® (agalsidase beta), replagal™ (agalsidase alfa), glyset® (miglitol), zavesca® (miglustat), or any experimental therapy for any indication * participated in a previous clinical trial in the last 30 days * any other condition, which, in the opinion of the investigator, would jeopardize the safety of the participant or impact the validity of the study results

Keywords: amicus therapeutics at1001 galafold migalastat substrate
combination ranibizumab and bromfenac for neovascular age-related macular degeneration

Conditions: Age-Related Macular Degeneration

Summary: this open-label, randomized, phase ii research study will look to see whether an investigational treatment combining bromfenac ophthalmic drops with ranibizumab intravitreal injection is safe and effective for treating wet amd as compared to ranibizumab alone.

age related macular degeneration (amd) is the leading cause of blindness in adults over the age of 50 years. it can cause permanent loss of eyesight due to deterioration of the macula. ranibizumab monotherapy is currently the standard of care in neovascular amd patients. inflammation is believed to play an important role in amd. currently, md's are investigating modulating the inflammation component of amd with intra-ocular steroids although there is a high rate of steroid associated adverse events, such as glaucoma, cataracts and endophthalmitis. bromfenac is a non-steroidal anti-inflammatory drug (nsaids) and is currently approved for the treatment of inflammation following cataract surgery. in combination with intravitreal ranibizumab, bromfenac may also provide anti-inflammatory effects and may be a safer alternative to steroids.

Eligibility criteria:
inclusion criteria: * ability to provide written informed consent and comply with study assessments for the full duration of the study * age \> 50 years * patients with active neovascular amd * if the patient has bilateral disease and qualifies for the study, both eyes may be included exclusion criteria: * pregnancy (positive pregnancy test) or lactation premenopausal women not using adequate contraception. * any other condition that the investigator believes would pose a significant hazard to the subject if the investigational therapy were initiated * current or recent participation in another simultaneous investigational drug trial may be exclusionary at the investigator's discretion * concurrent eye disease in the study eye that could compromise visual acuity (e.g., diabetic retinopathy, advanced glaucoma) * previous intravitreal steroid or anti-vegf therapy within last 3 months. * patients with a concurrent corneal epithelial disruption or erosion * patients with immune deficiencies that would affect the ability of the cornea to heal * patients with a known sensitivity to any component of the formulations under investigation

Keywords: neovascular amd treatment lucentis bromfenac
a gene transfer study for hemophilia a

Conditions: Hemophilia A

Summary: this clinical research study is being conducted by spark therapeutics, inc. to determine the safety and efficacy of the factor viii gene transfer treatment with spk-8011 in individuals with hemophilia a.

hemophilia a is a condition in which blood is unable to clot effectively. it is caused by a mutation or deletion in the gene that is responsible for producing blood-clotting factor viii protein. individuals with hemophilia a suffer from repeated bleeding episodes, often into the joints, which can cause chronic joint disease and sometime results in death due to the inability of the blood to clot efficiently. this chronic joint disease can have significant physical, psychosocial, and quality-of-life effects, including financial burden. the current standard of care includes the use of factor-based therapies which are given either as prophylaxis or to treat bleeding, as well as new non-factor prophylaxis therapies.

Eligibility criteria:
inclusion criteria: * males age 18 years or older * confirmed diagnosis of hemophilia a as evidenced by their medical history with baseline fviii activity levels \<=2% * have received \>150 exposure days (eds) to fviii concentrates or cryoprecipitate * have no prior history of allergic reaction to any fviii product * have no measurable inhibitor against fviii as assessed by the central laboratory and have no prior history of inhibitors to fviii protein and no clinical signs or symptoms of decreased response to fviii administration * agree to use reliable barrier contraception exclusion criteria: * evidence of active hepatitis b or c * currently on antiviral therapy for hepatitis b or c * have significant underlying liver disease * have serological evidence\* of hiv-1 or hiv-2 with cd4 counts ≤200/mm3 and who are on an antiretroviral drug regimen (\* participants who are hiv+ and stable with cd4 count \>200/mm3 and undetectable viral load are eligible to enroll) * have detectable antibodies reactive with aav-spark200 capsid * participated in a gene transfer trial within the last 52 weeks or in a clinical trial with an investigational product within the last 12 weeks

Keywords: adeno-associated virus (aav) blood coagulation disorders blood coagulation disorders, inherited coagulation protein disorders factor viii (fviii) factor viii (fviii) deficiency factor viii (fviii) gene factor viii (fviii) protein genetic diseases, inborn genetic diseases, x-linked gene therapy gene transfer hematologic diseases hemorrhagic disorders recombinant vector
cataract surgery vs cataract surgery with ecpl for treatment of plateau iris configuration or syndrome

Conditions: Glaucoma

Summary: the purpose of this study is to assess and compare the mechanical angle opening in patients with angle closure due to a plateau iris configuration (elevated iris) using phacoemulsification combined with endoscopic cycloplasty versus treatment with phacoemulsification alone.


Eligibility criteria:
inclusion criteria: * patient has to be ≥ 18 years of age of either gender * nuclear sclerotic cataract graded by locs iii to be \< 5 * diagnosis of plateau iris configuration or syndrome * no contraindication for cataract or ecpl operation * written informed consent on irb approved informed consent form exclusion criteria: * hard cataracts, locs iii 5 and 6 * ciliary body cysts * clinically significant sequelae from trauma in which angle anatomy/physiology may have been compromised (e.g., chemical burns, significant angle recession, blunt trauma, etc.) * congenital anomaly of the irido-trabecular angle * previous intraocular surgery * previous laser gonioplasty to either eye * placement of the intraocular lens in any place other than the capsular bag * pupilloplasty * rubeosis * peripheral anterior synechiae (pas) nasal angle and/or \>180 degrees of pas * neovascular glaucoma; or glaucoma associated with vascular ischemic disorders * active corneal inflammation or edema (e.g., keratitis, keratoconjunctivitis, keratouveitis) * corneal opacities or disorders that would inhibit visualization of the nasal angle * chronic ocular inflammatory disease or presence of active ocular inflammation with risk for synechial/proliferative changes * inability to attend regular follow-up assessment or to give informed written consent.
s0119: combination chemotherapy in treating patients with extensive-stage small cell lung cancer

Conditions: Lung Cancer

Summary: rationale: drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. combining more than one drug may kill more tumor cells. purpose: phase ii trial to study the effectiveness of combination chemotherapy in treating patients who have extensive-stage small cell lung cancer.

objectives: * determine the survival of patients with extensive stage small cell lung cancer treated with gemcitabine and irinotecan. * determine the response rates (confirmed and unconfirmed, complete and partial) of patients treated with this regimen. * determine the overall toxic effects of this regimen in these patients. outline: this is a multicenter study. patients receive gemcitabine iv over 30 minutes followed by irinotecan iv over 90 minutes on days 1 and 8. treatment repeats every 21 days for a total of 6 courses in the absence of disease progression or unacceptable toxicity. patients are followed every 6 months for 3 years. projected accrual: a total of 75 patients will be accrued for this study within 12 months.

Eligibility criteria:
disease characteristics: * histologically or cytologically confirmed extensive stage small cell lung cancer (sclc) * malignant pleural effusion constitutes extensive stage disease * must have disease outside area of prior surgical resection or a new lesion must be present * controlled brain metastases allowed (asymptomatic and previously treated with surgery and/or radiotherapy) * brain metastases must be re-evaluated by ct scan or mri after completion of radiotherapy or surgery patient characteristics: age: * 18 and over performance status: * zubrod 0-2 life expectancy: * not specified hematopoietic: * absolute granulocyte count at least 1,500/mm\^3 * wbc at least 3,000/mm\^3 * platelet count at least 100,000/mm\^3 hepatic: * bilirubin no greater than 1.25 times upper limit of normal (uln) * sgot or sgpt no greater than 2.5 times uln renal: * not specified other: * not pregnant or nursing * fertile patients must use effective contraception * no other malignancy within the past 5 years except adequately treated basal cell or squamous cell skin cancer, carcinoma in situ of the cervix, or other adequately treated stage i or ii cancer in complete remission prior concurrent therapy: biologic therapy: * no prior biologic therapy for sclc chemotherapy: * no prior systemic chemotherapy for sclc endocrine therapy: * not specified radiotherapy: * see disease characteristics * no prior radiotherapy for sclc except for brain metastases surgery: * see disease characteristics * at least 2 weeks since prior surgery (thoracic or other major surgery) and recovered

Keywords: extensive stage small cell lung cancer
evaluation of the correlation between vein size inferior cava and right atrial pressure in pediatric age and creation of a possible predictive model

Conditions: Congenital Heart Disease; Acquired Heart Disease

Summary: the goal of this observational study is to demonstrate the presence of a correlation between echographic measurements of the inferior vena cava (ivc) normalized for the pediatric population and right atrial pressures (rap) measured by central venous catheter (cvc) so as to create a predictive model of the value of right atrial pressures using echocardiographic parameters in the pediatric population. this study is single-center longitudinal and involves retrospective and prospective data collection.

primary objective: - to build a mathematical predictive model of rap specifically for paediatric patients from echocardiographic parameters analysed on a retrospective cohort. secondary objectives: * to evaluate the accuracy on the paediatric patient of the mathematical model in use for the estimation of rap in adult patients in a prospective cohort. * to test the mathematical model built in this study in a prospective cohort of patients outcome with regard to the primary objective, a new patient-specific model will be built paediatric patient from different methods of ultrasound measurement of the ivc (maximum and minimum diameter expressed as z-score, ratio between the two diameters, ratio between maximum diameter and systolic diameter of the aorta). systolic diameter of the aorta), as well as the patient's auxo-anthropometric values collected by means of the retrospective data. with regard to secondary objectives, the mathematical model in use for the patient will be applied adult patient to estimate the rap in our patients and the value obtained will be compared with the value measured.

Eligibility criteria:
inclusion criteria: * pediatric patients aged 0-18 years undergoing central venous catheter (cvc) placement in the course of the diagnosis performed at our center * obtaining informed consent from parent/guardian in case of minors exclusion criteria: - patients with univentricular cardiac physiology, nonsinus heart rhythm, mechanical ventilation, inferior vena cava thrombosis and patients with isomerism
carotid plaque imaging in acute stroke

Conditions: Stroke; Ischemic Attack, Transient

Summary: the purpose of this study is to determine the frequency, characteristics, and consequences of vulnerable carotid artery plaques ipsilateral to an acute ischemic stroke or tia in the territory of the internal carotid artery.

even with extensive diagnostic workup the underlying etiology remains unidentified in about 25% of patients with acute ischemic stroke (ais) or transient ischemic attack (tia). non-invasive high-resolution magnetic resonance imaging (hr-mri) of the carotid artery allows detecting vulnerable plaques (vp) and quantifying single plaque components. the hypotheses behind this study are that i) a substantial proportion of cases of ais and tia within the anterior circulation and no identified cause (cryptogenic ais or tia) are caused by vp in the carotid artery; ii) that these patients are at a high risk of developing a recurrent stroke, tia, or clinically silent lesions detectable by brain mri; and iii) that vp in the carotid artery are associated with specific infarct patterns as detected by diffusion-weighted mr imaging. finally, the investigators will search for biomarkers associated with vulnerable carotid artery plaques. motivating this study are the following considerations: i) data on the frequency and characteristics of vp in patients with cryptogenic ais or tia will provide valuable insights into stroke mechanisms; ii) depending on the results this study may have implications for diagnostic decision making and provide the basis for the planning of targeted interventional studies.

Eligibility criteria:
inclusion criteria: * age \> 49 years old * acute ischemic stroke or transient ischemic attack (tia) * neurological symptoms compatible with a stroke or tia in the anterior circulation (territory of the internal carotid artery) * onset of symptoms within the last 7 days * 1 or more acute ischemic lesion(s) visible on mr diffusion-weighted imaging (dwi) in the territory of a single internal carotid artery * presence of carotid artery plaques in the ipsilateral or contralateral carotid artery as defined by ultrasound (criteria: plaque thickness at least 2mm; located within 1cm proximal or distal to the carotid bifurcation) * written informed consent exclusion criteria: * primary referral to an outside hospital (to avoid recruitment bias) * dwi positive lesions outside the territory of a single internal carotid artery * carotid artery stenosis \> 69% (north american symptomatic carotid endarterectomy trial (nascet) criteria) ipsilateral to the stroke or tia as defined by ultrasound (systolic peak flow velocity ≥ 300 cm/s) * standard contra-indications for mri * documented allergy to mri contrast media * history of radiation to the neck area * renal clearance \< 30 ml/minute * creatinine levels \> 2 times the upper limit of the standard range of the respective laboratory within the last 30 days prior to mri * surgical procedure within 24 hours preceding the mri

Keywords: stroke ischemic attack, transient magnetic resonance imaging carotid arteries carotid artery plaque atherosclerosis
intravenous administration of vitamin b complex improves renal recovery in patients with aki

Conditions: Acute Kidney Injury

Summary: animal and human studies have shown that the administration of vitamin b3 (niacin) improves renal ischemia; helping to recover from acute kidney injury (aki) more effectively; therefore, its use in patients with aki could improve short-term outcomes: accelerating the recovery of renal function, reducing the days of hospital stay and costs; as well as reducing the incidence of chronic kidney disease (ckd) or progression of ckd after an episode of aki. our main objective is to determine the usefulness of the administration of vitamin b complex as a treatment for established acute kidney injury and its effect on short and long-term outcomes.


Eligibility criteria:
inclusion criteria: * patients over 18 years of age who meet modified kdigo criteria for acute kidney injury, based on serum creatinine or urinary volume criteria. exclusion criteria: * patient under 18 years of age * patients with stage g5 chronic kidney disease * patients with chronic kidney replacement therapy. * pregnant women * transplant patients

Keywords: acute kidney injury vitamin b complex creatinine proteinuria
derivation of induced pluripotent stem cells from an existing collection of human somatic cells

Conditions: Amyotrophic Lateral Sclerosis

Summary: induced pluripotent stem cells potentially may be useful in the future as an unlimited source of cells for transplantation. the major goal of the project is to develop human ips cells from various types of cell cultures or lines from existing collections. the ips cells will be developed for modeling diseases, for developing the technology that may eventually allow the use of ips cells for transplantation therapy, and for basic research.

the potential to reprogram somatic cells into an embryonic state raises multiple basic research questions related both to the process of reprogramming and the properties of ips cells. we will use various approaches to study the molecular mechanisms and processes that occur during reprogramming. we will use various experimental systems to characterize and study the properties of the ips cells, their biology, developmental potential, capability to give rise to functional differentiated progeny etc. we will induce the differentiation of the ips cells towards specific cell lineages and the progeny can be used to study the pathogenesis of diseases. they will be used for developing new therapeutic approaches and for high throughput screening of factors for potential toxic or therapeutic effects. all samples will be non-identified.

Eligibility criteria:
inclusion criteria: * volunteers * male and female exclusion criteria: * below the official age of consent

Keywords: als
phase 2 study of oral k201 for prevention of af recurrence

Conditions: Atrial Fibrillation

Summary: to evaluate the safety, efficacy, and tolerability of 3 doses of k201 (oral) administered for up to 28 days in subjects with recent dc cardioversion to sinus rhythm from sustained symptomatic atrial fibrillation (af duration \>3 days and \<6 months).


Eligibility criteria:
inclusion criteria: * symptomatic af (sustained \>3 days and \<6 months) and clinically indicated for cardioversion; * adequate anticoagulant therapy for cardioversion in accordance with standard practice as recommended by acc/aha/esc guidelines or with local clinical practice; * hemodynamically stable (90 mmhg \< systolic blood pressure \< 190 mmhg)at screening and on day 1; exclusion criteria: * known prolonged qt syndrome or qtc interval of \>0.500 sec at screening; familial long qt syndrome; previous torsade de pointes; ventricular fibrillation; or sustained ventricular tachycardia (vt); * qrs \>0.130 sec; * previous episodes of second- or third-degree atrioventricular block; * unsuccessful dc cardioversion attempt within 3 months; prior ablation for af; * persistent bradycardia with ventricular rate below 50 beats/min, sick-sinus syndrome or pacemaker (including crt, aicd); * myocardial infarction (mi), cardiac surgery, angioplasty, unstable angina or acute coronary syndrome within 30 days prior to entry into the study; * nyha class iii or class iv heart failure (hf) at screening or admission, or hospitalized for hf in previous 6 months; * known concurrent temporary secondary causes of af; * received a class i or class iii antiarrhythmic agent (including sotalol) within 5 half-lives of randomization or amiodarone or dronedarone within 4 weeks; * received treatment with other drugs known to prolong the qt interval within 5 half-lives.

Keywords: atrial fibrillation af
functional study of metabolites in patients with aortic dissection

Conditions: Aortic Dissection

Summary: research on metabolites in patients with aortic dissection, with a view to finding products with high or low metabolism in patients with aortic dissection, looking for metabolic factors related to the onset of aortic dissection, and further verifying the role of metabolic factors in disease through functional verification the role of formation, and ultimately explore the early screening of potential aortic dissection patients


Eligibility criteria:
inclusion criteria: * patients with aortic dissection exclusion criteria: * sepsis