Kornimate/medical-research-clean huggingface dataset:
slc13a5 deficiency natural history study - united states only

Conditions: Citrate Transporter Deficiency; Epilepsy; Rare Diseases; Movement Disorders; Genetic Disorder; SLC13A5 Deficiency; EIEE25; Kohlschutter-Tonz Syndrome (non-ROGDI); Citrate Transporter Disorder; DEE25

Summary: slc13a5 deficiency (citrate transporter disorder, eiee 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. this natural history study is designed to address the lack of understanding of disease progression. additionally it will identify clinical and biomarker endpoints for use in future clinical trials.

this is a longitudinal observational study of the natural history of slc13a5 deficiency for up to 2 years. this study does not involve any therapeutic intervention. the study includes in-person clinical assessments and laboratory analyses including standardized clinical evaluations, neurocognitive and quality of life scales, video movement rating scale, laboratory measurements of blood and urine, eeg capturing wake and sleep, ekg. additionally, remote assessments in 1st year (every 3 months) and 2nd year (every 4 months) of enrollment will be made and caregiver will be asked to keep a seizure diary for the duration of the study. personnel having expertise to comprehensively evaluate biological pathways that are perturbed by slc13a5 deficiency will analyze the collected data. improved understanding of disease pathogenesis will guide therapeutics and reveal clinical and biomarker endpoints for use in future clinical trials.

Eligibility criteria:
inclusion criteria: 1. parent(s)/legal representative and/or patient must be willing and able to give informed consent/assent for participation in the study. 2. males and females of any age are eligible for this study 3. suspected or confirmed diagnosis of slc135 deficiency with genetic variants in both slc13a5 alleles and consistent clinical characteristics. variants of uncertain significance in one or both alleles are acceptable if deemed good candidates by participant's primary geneticist or neurologist and study personnel. 4. participant and caregiver must be willing to provide clinical data, participate in standardized assessments, and provide biological samples. 5. willingness to travel to one of the three sites annually is favored, but not required. exclusion criteria: 1. the presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of slc13a5 deficiency. -

Keywords: epilepsy rare disease movement disorders genetic disorder citrate transporter disorder slc13a5 deficiency eiee25 neonatal seizures autosomal recessive dee25
effect of trimetazidine on radiotherapy-induced heart damage.

Conditions: Cardiotoxicity

Summary: this is a randomized controlled trial. 80 patients with thoracic radiotherapy will be included. participants will be randomly divided into experimental group or control group. before radiotherapy, echocardiography, 2d ste, ck, ck-mb, ctnt, nt-probnp, electrocardiogram (ecg), and hs-crp will be detected. during subsequent follow-up, echocardiography, 2d ste, ck, ck-mb, ctnt, nt-probnp, ecg, and hs-crp will be collected at every follow-up time.

this is a randomized controlled trial. 80 patients with thoracic radiotherapy will be included in peking university third hospital from may 15, 2021 to august 31, 2022. participants will be randomly divided into experimental group or control group. before radiotherapy, echocardiography, 2d ste, ck, ck-mb, ctnt, nt-probnp, electrocardiogram (ecg), and hs-crp will be detected. all participants will be followed up after completion of rt, 3 months after rt, 6 months after rt, and 12 months after rt. during subsequent follow-up, echocardiography, 2d ste, ck, ck-mb, ctnt, nt-probnp, ecg, and hs-crp will be collected at every follow-up time.

Eligibility criteria:
inclusion criteria: * lung tumor patients; 18-80 years old; will be treated by stereotactic body radiotherapy exclusion criteria: * prior radiotherapy; acs; heart failure (nyha iii-iv); arrhythmia requiring intervention; echocardiographic images that could not be satisfactorily obtained; significant valvular heart disease (defined as more than mild valvular regurgitation or stenosis).

Keywords: trimetazidine, radiation-induced heart damage, gls
first in human study to determine the safety, tolerability and preliminary efficacy of an anti-cxcr4 antibody in subjects with acute myelogenous leukemia and selected b-cell cancers

Conditions: Acute Myelogenous Leukemia; Diffuse Large B-Cell Leukemia; Chronic Lymphocytic Leukemia; Follicular Lymphoma

Summary: the purpose of this study is to assess the safety and tolerability of bms-936564 (mdx-1338) in relapsed acute myelogenous leukemia (aml) and other selected b-cell cancers and to determine the maximum tolerated dose (mtd) of the drug alone in relapsed/refractory aml


Eligibility criteria:
for more information regarding bms clinical trial participation, please visit www.bmsstudyconnect.com. inclusion criteria: a. common to all indications: * life expectancy at least 12 weeks * ecog performance status of 0-2 b. for acute myelogenous leukemia (aml) subjects: * first relapse and primary induction failure in aml (m3 excluded) * secondary aml subjects from myelodysplastic syndrome (mds) or prior chemotherapy are eligible. mds-only subjects are not eligible c. for follicular lymphoma (fl), diffuse large b-cell lymphoma (dlbcl) subjects: * must be at least 4 weeks (for fl) or 2 weeks (for dlbcl) since prior cytotoxic, biologic, monoclonal antibody, or investigational therapy * ability to undergo tumor biopsy pre-treatment and at end of monotherapy period (though not mandatory for all subjects) * subjects must have a histologically confirmed diagnosis of relapsed or refractory disease d. for chronic lymphocytic leukemia (cll) subjects: * subjects must have a histologically confirmed diagnosis of relapsed or refractory disease * must be at least 4 weeks since prior cytotoxic, biologic, monoclonal antibody, or investigational therapy, including corticosteroids exclusion criteria: a. common to all indications: * prior anti-cxcr4 therapy including bms-936564 (mdx-1338) * less than 3 months from prior hematopoietic stem cell transplant * presence of active graft versus host disease b. for aml subjects: * acute promyelocytic leukemia (m3) * left ventricular ejection fraction \< institutional limits of normal c. for fl, dlbcl subjects: * (for dlbcl): inadequate renal function defined as creatinine clearance (by cockcroft-gault formula) \< 60 ml/min * major surgery, not related to debulking procedures, within 21 days of first dose * myocardial infarction within 6 months prior to screening or class iii or iv heart failure, uncontrolled angina, severe uncontrolled ventricular arrhythmias, or electrocardiographic evidence of acute ischemia * myelodysplastic syndrome (mds) d. for cll subjects: * no progression to more aggressive b-cell cancers, such as richter's syndrome * major surgery within 21 days of cycle 1, day 1. patients undergoing debulking procedures and minor surgery are allowed after a recovery period, in the judgment of the investigator * myocardial infarction within 6 months prior to screening class iii or iv heart failure, uncontrolled angina, severe uncontrolled ventricular arrhythmias, or electrocardiographic evidence of acute ischemia
safety and efficacy of sgn-liv1a plus pembrolizumab for patients with locally-advanced or metastatic triple-negative breast cancer

Conditions: Triple Negative Breast Neoplasms

Summary: this trial studies ladiratuzumab vedotin (lv) with pembrolizumab in patients with triple-negative breast cancer. it will find out what side effects happen when participants get these two drugs. a side effect is anything the drugs do besides treating cancer. pembrolizumab is a drug that can be used to treat triple-negative breast cancer. the trial will also find out if these drugs work to treat this type of cancer. participants in this study have metastatic breast cancer. this means the cancer has spread to other parts of the body.

the primary goal of this study is to evaluate the combination of lv, which targets liv-1- expressing tumor cells, with the checkpoint inhibitor pembrolizumab for patients with unresectable locally-advanced or metastatic triple-negative breast cancer. these two drugs act through distinct and possibly complementary modes of action. this is a single-arm, open-label, multicenter trial. patients given lv and pembrolizumab during dose escalation will be monitored for frequency of dose-limiting toxicities to determine a recommended doses for expansion cohorts. in addition to safety measures, objective response rate, progression-free survival, overall survival, and other efficacy outcomes will be assessed.

Eligibility criteria:
inclusion criteria: * metastatic or locally-advanced, histologically documented tnbc (absence of her2, er, and pr expression) * part d only: tumor tissue pd-l1 combined positive score \<10 expression. * have not previously received cytotoxic therapy for the treatment of unresectable locally-advanced breast cancer or metastatic breast cancer * at least 6 months since prior treatment with curative intent and recurrence * at least 1 tumor 10mm in diameter or greater or lymph node of at least 15 mm in short axis * eastern cooperative oncology group (ecog) performance status of 0 or 1 * able to provide biopsy tissue for biomarker analysis * meet baseline laboratory data criteria exclusion criteria: * prior immune-oncology therapy * pre-existing neuropathy of at least grade 2 * history of carcinomatous meningitis or active central nervous system (cns) metastases. patients are eligible if cns metastases are adequately treated and patients have neurologically returned to baseline (except for residual signs or symptoms related to the cns treatment) for at least 4 weeks prior to enrollment. patients must be off corticosteroids. * received prior radiotherapy within 2 weeks of start of study treatment or have not adequately recovered from prior radiotherapy * active autoimmune disease requiring systemic treatment within the past 2 years * history of interstitial lung disease * current pneumonitis or history of pneumonitis requiring steroids

Keywords: breast cancer breast carcinoma triple negative breast cancer locally-advanced breast cancer metastatic breast cancer tumors, breast breast tumors pembrolizumab liv-1 protein, human ladiratuzumab vedotin hliv22-vcmmae seattle genetics
identification of biomarkers in subjects with coronary syndrome (plaque study)

Conditions: Coronary Syndrome

Summary: the study will to test the levels of innovative biomarkers, such as mirnas, in the blood of subjects underwent to angioplasty procedure according to standard clinical practice.

twenty patients with acute coronary syndrome from non-st-segment elevation myocardial infarction or with chronic coronary syndrome with clinical indication and favorable anatomy for coronary angioplasty will be enrolled. the angioplasty procedure will be performed according to standard clinical practice. before and after angioplasty, blood samples will be taken upstream and downstream of the coronary lesion, arterial sampling will be performed at the level of the aortic root, and peripheral venous blood will be collected. microrna expression will be analyzed in serum by next-generation sequencing (mirnome). quantitative analysis of pro- and anti-inflammatory molecules such as il-6 and the soluble form of il-33 receptor (sst2) will be performed on various blood samples.

Eligibility criteria:
inclusion criteria: * clinical indication for the pci procedure according to the latest esc (european society of cardiology) guidelines * coronary stenosis treated with angioplasty must be located in the proximal segments of the three main vessels: iva, cx and cd * the vessels must have a diameter of their mid-distal section ≥ 3 mm * patients with nstemi acs and clinical indication with favorable anatomy for coronary angioplasty, also called percutaneous coronary intervention (pci), (for the acs group) * patients with clinically incipient scc with stable angina (or significant anginal equivalents) and clinical indication with favorable anatomy for pci (for the scc group) exclusion criteria: * contraindications to anticoagulant/antiplatelet therapy * extensive calcifications and/or tortuosity of the major epicardial segments * evidence of thrombotic occupation * patients with hemodynamic instability * patients with ef (ejection fraction) \< 35% * patients with severe chronic renal failure (e-gfr \< 30 ml/min)

Keywords: acute coronary syndrome chronic coronary syndrome micrornas soluble st2 interleukin-6
egfr mutations on ctdna in patients with advanced nsclc

Conditions: Non-small Cell Lung Cancer Stage III; Non-Small-Cell Lung Cancer Metastatic

Summary: the study aims to explore the prevalence of egfr mutations assessed with ctdna samples in advanced nsclc, who had received ≤ 1 prior systemic chemotherapy regimens.


Eligibility criteria:
inclusion criteria: * histologically confirmed stage iiib/iv nsclc; * patient had received ≤ 1 prior systemic chemotherapy regimens; * provision of blood (plasma) sample for ctdna testing; * patient must be able to comply with the protocol; exclusion criteria: * prior received ≥2 systemic chemotherapy regimens; * as judged by the investigator, any evidence of severe or uncontrolled systemic disease (e.g. unstable or uncompensated respiratory, cardiac, hepatic or renal disease); * histologically confirmed small cell lung cancer or other metastatic tumors; * patient with no histologic or cytological diagnosis;

Keywords: non-small cell lung cancer circulating tumor dna amplification refractory mutation system
intracoronary thrombus detection by magnetic resonance imaging

Conditions: Angina Pectoris; Angina, Stable; Angina, Unstable; Myocardial Infarction

Summary: this study involves the use of magnetic resonance imaging (mri) to determine whether blood clots can be identified within the blood vessels supplying blood to the heart in patients with angina and who have recently suffered a heart attack.

the majority of heart attacks are caused as a result of small blood clots forming within the blood vessels supplying blood to the heart, obstructing blood flow to the heart muscle. research has also shown that blood clots may form in the blood vessels of the heart without causing a heart attack. at present, blood clots may be identified by techniques used during invasive coronary angiography, but we wish to determine whether a non-invasive test (mri scanning) can be used to detect small blood clots within the blood vessels supplying blood to the heart muscle.

Eligibility criteria:
inclusion criteria: * aged over 18 years * previously diagnosed coronary artery disease undergoing elective invasive angiography (cohort 1) or * admitted with acute coronary syndrome (acs) diagnosed by two of the following criteria; 1. elevation of cardiac biomarkers (high sensitivity troponin i greater than 34ng/l in men and 16ng/l in women). 2. symptoms of myocardial ischaemia 3. electrocardiogram (ecg) changes indicative of acute ischaemia (cohort 2) * planned invasive coronary angiography exclusion criteria: * contraindication or inability to undergo mri scanning * renal failure (estimated glomerular filtration rate less than 30millilitres/minute) * undergoing primary percutaneous coronary intervention * ongoing myocardial ischaemia or dynamic ecg changes * inability to provide informed consent * known allergy to gadolinium based contrast * women who are pregnant, breastfeeding or of child-bearing potential
mdt to evaluate the survival benefit of patients with advanced gastric / colorectal cancer

Conditions: Multi-disciplinary Treatment

Summary: this is a prospective, multicenter, non-interventional, controlled clinical study. evaluate mdt performance and benefit analysis in patients with advanced gastric or colorectal cancer after mdt discussion under real medical practice.


Eligibility criteria:
inclusion criteria: 1. histopathological diagnosis of recurrent / metastatic gastric or colorectal cancer. 2. participate in formal mdt discussions at the research center. 3. mdt decision-making at least two subjects involved in treatment. 4. patient informed consent and signed written consent. exclusion criteria: 1. early or locally advanced gastric cancer or colorectal cancer. 2. accept informal mdt discussions. 3. mdt decisions recommend only a single subject for treatment of patients. 4. mdt decisions recommend only palliative patients.
a phase 1b/2, multicenter, open-label study of acp-196 in subjects with recurrent glioblastoma multiforme (gbm)

Conditions: Glioblastoma Multiforme

Summary: a phase 1b/2, multicenter, open-label study of acp-196 in subjects with recurrent glioblastoma multiforme (gbm)

a phase 1b/2, multicenter, open-label study was designed to evaluate the efficacy and safety of acalabrutinib in subjects with recurrent glioblastoma multiforme (gbm) who had progressed after one or two prior systemic treatment regimens.

Eligibility criteria:
inclusion criteria: * men and women ≥18 years of age * histologically confirmed gbm at first or second recurrence after concurrent or adjuvant chemotherapy or radiotherapy (must have received temozolomide). * radiographic demonstration of disease progression by mri following prior therapy. * measurable disease (bidimensional) as defined by the rano criteria, with a minimum measurement of 1 cm in longest diameter on mri performed within 21 days of first dose of acalabrutinib; mri must have been obtained ≥4 weeks after any salvage surgery after first or second relapse. * stable or decreasing dose of corticosteroids ≥5 days before baseline mri (at study entry). * on a stable dose of any required therapy (such as anticonvulsant medication for subjects to be enrolled into the phase 1b portion), for ≥3 weeks before the first dose of acalabrutinib. * eastern cooperative oncology group (ecog) performance status of ≤2. * life expectancy ≥ 12 weeks. * completion of all prior anticancer therapy before first acp-196 dose. * need to have recovered (i.e., grade ≤1 or baseline) from aes associated with prior cancer therapy. note: subjects with grade ≤2 neuropathy or grade * 2 alopecia are an exception, and may qualify for the study. exclusion criteria: * three or more prior lines of systemic therapy for gbm. * prior malignancy (other than gbm), except for adequately treated basal cell or squamous cell skin cancer, in situ cervical cancer, or other cancer from which the subject has been disease free for ≥2 years. any cases of prior malignancy allowed on study are to be approved by the study medical monitor. * significant cardiovascular disease. * malabsorption syndrome, disease significantly affecting gastrointestinal function, or resection of the stomach or small bowel, symptomatic inflammatory bowel disease, partial or complete bowel obstruction, or gastric restrictions and bariatric surgery, such as gastric bypass. * evidence of bleeding diathesis or coagulopathy. * requires urgent palliative intervention for primary disease * requires treatment with a strong cyp3a4 inhibitor.. * history of stroke or clinically significant intracranial hemorrhage within 6 months before first dose of study drug. * breastfeeding or pregnant. * subjects previously treated with bevacizumab (avastin)

Keywords: glioblastoma multiforme gbm btk, cll chronic lymphocytic leukemia nk natural killer (cells) orr overall response rate os overall survival rano response assessment in neuro-oncology (criteria) rci reliale change index (methodology)
feasibility of measuring exercise's effects on molecular mechanisms of disease progression in prostate cancer

Conditions: Prostate Cancer

Summary: the investigators aim to evaluate the feasibility of a larger clinical trial assessing an exercise program during the "teachable moment" in patients with prostate cancer and measuring its effect on tumor apoptosis signaling, lipogenesis and steroidogenesis. participants will be randomized between a 4-12 week exercise program or to standard of care only. participants will be assessed at screening, baseline (day 0), throughout the trial intervention (days 1-84), post-intervention visit (prior to radical prostatectomy) and final study visit 6-months post-radical prostatectomy. at each assessment, physical, biological samples and psychosocial assessments will take place.


Eligibility criteria:
inclusion criteria: * completed pre-screening consent form * men with cap, who are deemed suitable by a urologist for rp * engaging in \<90 minutes/week of moderate-to-vigorous exercise * bmi \<40 * age \>19 * able to speak and read english (to be able to complete questionnaires) * willing to comply with all study procedures (including committing to twice-weekly visits to the study exercise facility and exercise at home) and be available for the duration of the study * provide signed and dated informed consent form exclusion criteria: • men with a medical, musculoskeletal condition or use of mobility aid that prevents participation in the exercise intervention.
quality of life after bladder-preservation chemotherapy and radiation therapy in patients with muscle-invasive bladder cancer

Conditions: Infiltrating Bladder Urothelial Carcinoma

Summary: this research trial studies quality of life after bladder-preservation chemotherapy and radiation therapy (chemo-radiotherapy) in patients with bladder cancer that has spread into or through the muscle layer of the bladder (muscle-invasive bladder cancer). bladder-preservation chemo-radiotherapy is a standard treatment for patients with muscle-invasive bladder cancer, however, chemo-radiotherapy may cause urinary tract, bowel, and sexual late side effects that negatively affect patients' quality of life. studying quality-of-life in patients with muscle-invasive bladder cancer after chemo-radiotherapy may help identify the long-term side effects of treatment and may help plan the best treatment in the future and improve patients' quality of life.

primary objectives: i. to study health-related quality of life (hrqol, or qol) for patients undergoing protocol-based bladder-preservation chemo-radiation. outline: patients complete the european organization for research and treatment for cancer (eortc) qlq-bladder cancer muscle invasive (blm-c30) at baseline, every 3 months for 1 year, every 4 months for 1 year, every 6 months for 3 years, and then annually thereafter after completion of chemo-radiotherapy.

Eligibility criteria:
inclusion criteria: * histologically confirmed muscle-invasive urothelial cancer (no histology will be excluded) * no pelvic nodal metastases or distant metastases (based on computed tomography \[ct\], positron emission tomography \[pet\] or magnetic resonance imaging \[mri\]) * karnofsky performance status (kps) \>= 70 * ability to understand, and willingness to sign, the written informed consent * patient will have either opted for bladder-sparing treatment as compared to radical cystectomy, or deemed medically inoperable * following the recent recommendations from the international consultation on urological diseases-european association of urology international consultation on bladder cancer, eligible patients will be those with no hydronephrosis, no extensive carcinoma in situ (cis), and no tumor invasion into the stroma of the prostate exclusion criteria: * patients with any evidence of distant metastases * prior pelvic radiotherapy * history of crohn's disease or ulcerative colitis * unable to receive chemotherapy * histologies other than urothelial (eg. squamous cell carcinoma, adenocarcinoma, small cell)