Kornimate/medical-research-clean huggingface dataset:
biomarker for krabbe disease (biokrabbe)

Conditions: Krabbe Disease

Summary: development of a new ms-based biomarker for the early and sensitive diagnosis of krabbe disease from blood

krabbe disease is a rare, hereditary degenerative disorder of the central and peripheral nervous systems. it is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve's protective myelin coating, and destruction of brain cells. krabbe disease is one of a group of genetic disorders called the leukodystrophies. these disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe deterioration of mental and motor skills. myelin is a complex substance made up of at least 10 different enzymes. each of the leukodystrophies affects one (and only one) of these substances. krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. the disease most often affects infants, with on-set before age 6 months, but can occur in adolescence or adulthood. symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. other symptoms include muscle weakness, spasticity, deafness, and blindness. overall calculated european frequency is 1 case per 100,000 populations, with a higher reported incidence in sweden of 1.9 cases per 100,000 populations. an unusually high incidence, 6 cases per 1000 live births, is reported in the druze community in israel. new methods, like mass-spectrometry give a good chance to characterize in the blood (plasma) of affected patents specific metabolic alterations that allow to diagnose in the future the disease earlier, with a higher sensitivity and specificity. therefore it is the goal of the study to develop new biochemical markers from the plasma of the affected patients helping to benefit the patient by an early diagnose and thereby with an earlier treatment.

Eligibility criteria:
inclusion criteria: * informed consent will be obtained from the patient or the parents before any study related procedures. * patients of both gender from one year old * the patient has a diagnosis of krabbe disease exclusion criteria: * no informed consent from the patient or the parents before any study related procedures. * patients younger than one year * the patient has no diagnosis of krabbe disease

Keywords: krabbe disease biomarker
black women's life experience on cardiovascular health via ongoing monitoring

Conditions: Cardiovascular Diseases; Heart Disease Risk Factors

Summary: this pilot study uses a state-of-the-science combination of remote behavioral monitoring, real-time experience sampling, in-lab physiological assessments, and extraction of neighborhood-level characteristics to (1) examine the impact of daily experience (i.e., racial discrimination, affective states, stress) on health behaviors (i.e., physical activity, sedentary behavior, sleep) at the intrapersonal level among black women; (2) test the association between daily behaviors and impairments in biomarkers associated with vascular function/health (i.e., augmented systemic inflammation and oxidative stress, impaired peripheral/cerebral vascular function, increased large artery stiffness), as well as the impact of daily experience on the relationship between behaviors and vascular function; and (3) explore the influence of neighborhood-level characteristics (i.e., social environment factors: i.e., neighborhood income and poverty, racial composition; and built environment context, such as park density and walkability) on daily experience and health behaviors.


Eligibility criteria:
inclusion criteria: * born and identified as female; * between 18-49 years old; * self-identify as black or african american; * not currently pregnant; * ownership of a smartphone with internet access; * able to speak and read english exclusion criteria: * diagnosed hypertension, cardiovascular, respiratory, metabolic, and/or neurological disorders; * functional limitations or health issues that preclude physical activity; * currently taking medications for thyroid function or psychological conditions such as depression, anxiety, and mood disorders; * current use of oral or inhalant corticosteroids for asthma; * have regularly smoked within the last 2 years.
a comparison of oasis wound matrix with approved dressings for skin graft donor sites

Conditions: Skin Graft Complications

Summary: the investigators objective is to compare oasis wound matrix with other commonly used dressings available for the donor site in split thickness skin grafting in order to determine which dressing provides the best outcome based on pain level, time to healing and aesthetic outcome.

investigators seek to compare oasis wound matrix with tegaderm and xeroform in order to determine whether advantages exist in one or more of the dressing types that are approved and currently used for split-thickness skin graft donor site dressings. patients will be randomly assigned to one of the three treatment groups and followed up post-operatively and treated as per current standard of care. data to be collected and analyzed includes: patient age, co-morbid illnesses, medication, skin-graft donor location, skin-graft donor area, stsg thickness, infection rate, complications involving the donor site, post-operative pain score every morning until hospital discharge, healing rate, photographs of the donor site immediately post-operatively and then at routine follow-up appointments.

Eligibility criteria:
inclusion criteria: * patients scheduled to undergo split thickness skin grafting * patients able to consent without a proxy exclusion criteria: * confounding medical conditions * previous skin grafting from site * prior use of biological skin substitute on site
a study of the absorption, distribution, metabolism, and elimination of opevesostat (mk-5684) in healthy adult male participants (mk-5684-008)

Conditions: Metastatic Prostate Cancer

Summary: this is a study of opevesostat in healthy adult male participants. the purpose of this study is to understand the absorption, distribution, metabolism, and elimination of opevesostat in humans, as well as its pharmacokinetics (pk), metabolic profile, and safety and tolerability.


Eligibility criteria:
inclusion criteria: * is a healthy male according to the assessment of the investigator * has a body mass index of 18.0 to 32.0 kg/m2 * has regular bowel movements (i.e., average stool production of ≥1 and ≤3 stools per day) exclusion criteria: * has the presence or history of clinically significant allergy requiring treatment * has a history of adrenal insufficiency * has veins not suitable for multiple venipunctures/cannulation * has previously taken part in more than 3 radiolabeled drug studies in the last 12 months * has donated blood or plasma within the previous 3 months or lost greater than 400 ml of blood
the revealplaque study: a prospective, multicenter study to analyze plaque using ccta

Conditions: Coronary Artery Disease

Summary: this study will evaluate the level of agreement between noninvasive ccta-based quantification and characterization of coronary atherosclerosis and invasive ivus .

this is a prospective, multi-center study. all patients who have a stenosis in at least one major epicardial vessel confirmed by ccta, who have undergone ffrct analysis, and who are scheduled to undergo clinically indicated ivus-guided invasive evaluation and/or treatment will be eligible for enrollment. enrolling sites will have ffrct analysis incorporated when indicated into their standard evaluation of ccta scans. data collected will include ccta and ffrct, full angiographic, and ivus images, and if obtained, any other imaging or physiologic data including oct, ffr, any nhpr (e.g., dpr, rfr, ifr, etc.), and pre- and post-stent implantation invasive data. all non-invasive and invasive data collected will be obtained as clinical practice consistent with standard clinical care.

Eligibility criteria:
inclusion criteria (all must be present): 1. age ≥18 years 2. clinically stable patient with known cad 3. ccta showing stenosis in at least one major epicardial vessel of stentable/graftable diameter, in whom clinically indicated ivus is planned within 45 days of the ccta and ffrct available 4. ffrct successfully processed 5. willing to comply with all aspects of the protocol 6. agrees to be included in the study and able to provide written informed consent. exclusion criteria (all must be absent): 1. 1. ccta showing no stenosis 2. uninterpretable ccta by heartflow assessment, in which image quality prevents ffrct from being processed. 3. acute chest pain 4. cabg prior to ccta acquisition 5. prior history of pci for 3 or more vessels 6. mi less than 30 days prior to ccta or between ccta and ica. 7. suspicion of acute coronary syndrome (acute myocardial infarction or unstable angina) 8. known complex congenital heart disease 9. tachycardia or significant arrhythmia 10. subject requires an emergent procedure 11. evidence of ongoing or active clinical instability, including acute chest pain (sudden onset), cardiogenic shock, unstable blood pressure with systolic blood pressure \<90 mmhg, and severe congestive heart failure (nyha iii or iv) or acute pulmonary edema 12. any active, serious, life-threatening disease with a life expectancy of less than 2 months 13. currently enrolled in another study utilizing ffrct or in an investigational trial that involves a non-approved cardiac drug or device 14. persons under the protection of justice, guardianship, or curatorship
penk methylation test for detecting bladder cancer

Conditions: Bladder Cancer; Hematuria; Benign

Summary: the primary objective of this clinical trial is to determine the sensitivity and specificity of the earlytect® bladder cancer test for bladder cancer among patients with hematuria by comparing it to the results of cystoscopy examinations. the second objective is to compare the clinical performance of earlytect® bladder cancer test with a nmp22 test and urine cytology test with respect to bladder cancer. by histopathological examination, lesions identified during cystoscopy will be confirmed as malignant or non-malignant by histological examination.

patients with hematuria who are scheduled for cystoscopy will be asked to collect a urine sample for earlytect® bladder cancer test and will undergo nmp22 and urine cytology tests. the participants will undergo a cystoscopy within 30 days of enrollment. for confirmation of the diagnosis and stage of the tumor, representative histopathology slides from turbt (transurethral resection of bladder tumors) may be retrieved and examined by the central pathology laboratory.

Eligibility criteria:
inclusion criteria: * individuals who agree to voluntarily sign an informed consent prior to the initiation of screening * adults aged ≥40 * subjects who have had gross or microscopic hematuria within the 3 months * subjects who had no history of bladder cancer and upper tract urothelial cancer * subjects who will undergo cystoscopy, nmp22 test, and urine cytology within 1 month after consent exclusion criteria: * individuals who do not agree to voluntarily sign an informed consent prior to the initiation of screening * subjects aged \<40 years * subjects with a history of bladder cancer and upper tract urothelial cancer * female who are currently menstruating or who have had their last menstrual period within the last 3 days * subjects who have undergone invasive procedures in the urinary tract system within the last 3 months * subjects with suspected upper urothelial cancer lesions on ultrasound or ct scan * subjects who have previously received pelvic radiation therapy * subjects who have been diagnosed with other cancers and have received or are currently receiving chemotherapy or immunotherapy within 6 months * subjects who require treatment for an active urinary tract infection or vaginitis * subjects undergoing prostate cancer treatment or requiring a prostate biopsy * subject has any condition which, in the opinion of the investigator should preclude participation in the study

Keywords: bladder cancer hematuria methylation biomarker earlytect® bladder cancer test real-time pcr (lte-qmsp) urine
safety study of the drug mm-151 in patients with advanced solid tumors resisting ordinary treatment

Conditions: Advanced Solid Tumors; Colorectal Cancer; Squamous Cell Head and Neck Cancer; Non Small Cell Lung Cancer; Triple Negative Breast Cancer

Summary: this study is a phase 1 and pharmacologic open-labeled dose-escalation trial using a "3+3" design, evaluating mm-151 at varying dose levels and frequencies, and subsequently in combination with irinotecan.

this study is a phase 1 and pharmacologic open-labeled dose-escalation trial using a "3+3" design exploring weekly, bi-weekly, and tri-weekly dosing schedules. successive mm-151 monotherapy cohorts of three or more patients will be treated at escalating doses until a maximum tolerated dose is identified, and subsequently in combination with irinotecan. the study consists of three parts as follows: mm-151 monotherapy dose escalation (part 1); mm-151 monotherapy expansion cohort in cetuximab-refractory colorectal cancer (part 2); mm-151 + irinotecan dose escalation (part 3). it is expected that approximately 4 study sites will participate.

Eligibility criteria:
inclusion criteria: * patients must have histologically or cytologically confirmed advanced malignant solid tumor that has recurred or progressed following standard therapy, or that has not responded to standard therapy, or for which there is no standard therapy, or who are not candidates for standard therapy * patients must be \> 18 years of age * patients of their legal representatives must be able to understand and sign an informed consent form * patients must have evaluable or measurable tumor(s) * patients must be recovered from the effects of any prior surgery, radiotherapy or other antineoplastic therapy. up to ctcae grade 1 is acceptable for patients with known peripheral neuropathy * women of childbearing potential as well as fertile men and their partners must agree to abstain from sexual intercourse or to use an effective form of contraception during the study and for 90 days following the last dose of mm-151 (an effective form of contraception is an oral contraceptive or a double barrier method) exclusion criteria: * patients for whom potentially curative antineoplastic therapy is available * patients who are pregnant or lactating * patients with an active infection or with an unexplained fever \> 38.5°c during screening visits or on the first scheduled day of dosing. (at the discretion of the investigator, patients with tumor fever may be enrolled.) * patients with untreated and/or symptomatic cns malignancies (primary or metastatic); patients with cns metastases who have undergone surgery or radiotherapy, whose disease is stable, and who have been on a stable dose of corticosteroids for at least 2 weeks prior to the first scheduled day of dosing will be eligible for the trial

Keywords: cancer solid tumors oncology phase i egfr egf receptor (erbb1) irinotecan
vestibular outcomes in vestibular schwannoma

Conditions: Vestibular Schwannoma

Summary: previous studies have shown that vertigo is the symptoms that mostly affect quality of life in patients with vestibular schwannoma. there is still limited knowledge as to why some patients with this disorder develop vertigo, while others with the same diagnosis do not. the purpose of this study is to measure symptom-related quality of life and to relate this to objective disease characteristics at baseline.

this is a longitudinal observational study with data collected at baseline and after treatment. variables collected at baseline include age, sex, tumor size, location, type (cystic/solid), tumor side, symptom variables including dizziness handicap inventory, vertigo symptom scale short form, haukeland dizziness questionnaire, visual analog scale, hospital anxiety and depression scale, rand-12, dynamic posturography, video-based head impulse test, bithermal caloric tests, ocular and cervical vestibular evoked myogenic potentials. follow-up data after 1 year are the same patient-reported outcomes as at baseline.

Eligibility criteria:
inclusion criteria: * patients living i norway referred to haukeland university hospital due to newly diagnosed, untreated vestibular schwannoma exclusion criteria: * inability to undergo test protocol due to physical or language barriers

Keywords: vestibular evoked myogenic potentials head impulse testing quality of life
combined breast cancer risk study

Conditions: Hereditary Cancer

Summary: a prospective, non-interventional study in women 18 to 84 years of age. subjects will provide a sample for genetic testing and information about their medical and family history. the results of the genetic test will be combined with clinical data to validate a method of predicting breast cancer risk.

this is a prospective, non- interventional study. women presenting at imaging centers for routine breast cancer screening or breast cancer diagnostic assessment and who provide written informed consent will undergo genetic testing. subjects will also provide information about their personal medical and cancer history and family cancer history. the results of the genetic test will be combined with the subject's clinical information, family history, and a risk assessment model to validate a new method of predicting breast cancer.

Eligibility criteria:
inclusion criteria: women without breast cancer: * 18 to 84 years of age * western/northern european, central/eastern european, or ashkenazi ancestry * no history of invasive breast cancer women with a history of breast cancer: * 18 to 84 years of age * western/northern european, central/eastern european, or ashkenazi ancestry * pathologically confirmed invasive breast cancer diagnosed within the past 12 months exclusion criteria: * unwilling to provide written informed consent * women with history of ductal carcinoma in situ (dcis). * patient has had a prior breast biopsy, exclusive of a breast biopsy diagnostic of breast cancer, that showed either hyperplasia, atypical hyperplasia, lobular carcinoma in situ (lcis), or the specific histologic result is unknown to the patient
impact of treatment with rituximab on the progression of humoral acute rejection after renal transplantation

Conditions: Graft Rejection

Summary: assessing the impact of j12 curative treatment with rituximab (375 mg / m² on j5) based on a composite "treatment failure"


Eligibility criteria:
inclusion criteria: * patient adult male or female (age 18 years), kidney transplantation for less than one year (transplant from a living donor or deceased), with acute humoral rejection defined by : * the deterioration of renal function assessed by serum creatinine increase of more than 20% compared to the best value, or * in the first 28 days after transplantation, no significant creatinine decrease, and * at least 2 of the 3 following criteria: * tissue damage such as (a) acute tubular necrosis, (b) presence of monocytes or granulocytes in the cpt and / or glomeruli and / or capillary thrombosis, (c) intimal arteritis / fibrinoid necrosis * c4d level of cpt and / or presence of ig or complement in lesions of fibrinoid necrosis * presence of hla antibodies directed against the donor. patient having given his written consent to participate in the clinical trial. exclusion criteria: * pregnant or lactating * women during their reproductive years without effective contraception, * a patient with multiple organ transplants, * patients with clinically active infection by hcv uncontrolled * patients with active infection, or suspected of infection by hiv or hbv, and tuberculosis, * patients with heart failure class iv (nyha) cardiac disease or uncontrolled * patients for whom vaccination is scheduled, * patient with disabilities did not allow an understanding of the requirements of the test * patient in safeguarding justice, guardianship or trusteeship, * patient with cons-indication to rituximab (known hypersensitivity to any component or murine protein) * patient had previously received rituximab within 3 months before inclusion * patient participation in another clinical trial

Keywords: kidney transplantation, acute humoral rejection, rituximab
improving diagnosis of breast cancer by using a combined mri and positron emission mammography (mri-pem) system

Conditions: Breast Cancer

Summary: the purpose of the study is to assess whether the addition of positron emission mammography will add diagnostic value to magnetic resonance imaging of the breast, in patients with lesions of the breast that are suspicious enough to warrant biopsy, or which have been confirmed as containing cancer cells.

70 eligible subjects will be asked to undergo contrast-enhanced mri studies of the breast containing the lesion. subjects will be asked to fast for 6 hours prior to the imaging session. each subject will be tested for glucose, and if the glucose is not too high, the subject will be injected with a dose of radioactive sugar (fluoro-deoxyglucose) which has been shown in other studies to accumulate in breast cancers. the subject will be asked to sit quietly for 30 minutes and to empty the bladder. the subject will then be asked to be re-examined in the mri scanner with mri contrast injection. the examination bed will be moved out of the mri scanner and detectors of the radioactive sugar will be placed near the breast in order to obtain a positron emission mammogram for a 10-minute period. the subject will then leave the mri suite.

Eligibility criteria:
inclusion criteria: * female over 21 years of age; * with a suspicious lesion found in the breast and recommended for biopsy or have a confirmed diagnosis of cancer; * and in good health (other than having breast lesions); * and can lie still in a prone position for 30 minutes in an mri scanner. exclusion criteria: * pregnancy; * unwilling to give informed consent; * have implanted prosthetic heart valve, * pacemaker, * neurostimulator, * surgical clips or other metallic implants; * have engaged in occupations or received orthodontic work which may have caused lodging of ferromagnetic materials in the body; * are claustrophobic; * have been allergic to contrast agents; * are diabetic; * or have a history of kidney disease.