Kornimate/medical-research-clean huggingface dataset:
personalized antisense oligonucleotide therapy for rare pediatric genetic disease: scn2a

Conditions: Genetic Disease

Summary: this research project entails delivery of a personalized antisense oligonucleotide (aso) drug designed for a single pediatric participant with scn2a associated developmental epileptic encephalopathy

this is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (aso) treatment in a single pediatric participant with a de novo pathogenic gain of function scn2a mutation associated with severe developmental epileptic encephalopathy.

Eligibility criteria:
inclusion criteria: * informed consent provided by the participant's parent(s)/guardian(s) * ability to travel to the study site, adhere to study-related follow-up examinations and/or procedures, and provide access to participant's medical records. * genetically confirmed mutation exclusion criteria: • use of an investigational medication within less than 5 half-lives of the drug at enrollment
evaluating contact lens optics

Conditions: Myopia

Summary: this study will evaluate changes in refractive error and visual performance between a single vision soft contact lens and multifocal soft contact lens


Eligibility criteria:
inclusion criteria: * able to read and understand the informed consent document * 18 to 39 years of age (inclusive) * best corrected visual acuity of 20/25 or better in the right eye * refractive error from -1.00d to -6.00d with astigmatism less than or equal to -1.00d in the right eye (corneal plane) exclusion criteria: * any ocular or systemic conditions affecting vision, refraction, or the ability to wear a soft contact lens * history of ocular trauma or surgery causing abnormal or distorted vision * current rigid gas permeable (rgp) contact lens wearers * unwilling to have contact lens fit photographed * pregnant and/or lactating females, by self-report
supplementation of alpha-linolenic acid (ala)-rich oil in humans

Conditions: Overweight; Hypercholesterolemia

Summary: the objective of this study is to investigate the accumulation of n-3 lc-pufa (epa, dpa and dha) in human lipids by oral supplementation of ala-rich linseed oil. in addition, the accumulation of n-3 lc-pufa is compared between subpopulations of different age, gender and physiological conditions (overweight, increased serum total cholesterol).

n-3 pufa are important for human health and nutrition. unfortunately, the land-based n-3 ala is a limited precursor for the formation of n-3 lc-pufa. the conversion of ala depends on the rate-limiting ∆6-desaturation. the first objective of this study is to investigate differences of the accumulation of n-3 lc-pufa (epa, dpa and dha) in human lipids during supplementation of ala-rich linseed oil dependent on age, gender and physiological conditions (overweight, increased serum total cholesterol). one study group will receive fish oil with mainly epa as positive control. the second objective is to compare the n-3 lc-pufa enrichment during the linseed oil supplementation (study lsep h50-kk) with the n-3 lc-pufa enrichment during the further echium oil supplementation (study lsep h42-kk). the second study will be the control for the first study. therefore, it is planned to recruit the same subjects for the linseed oil supplementation. eighty volunteers will be recruited and allocated into four study groups depending on age and bmi. three groups (each n=20) will receive daily ca. 15 g linseed oil (mean age: 25 and 55 years; mean bmi \ 25). one group (n=20) will receive n-3pufa free olive oil (mean age 25 and 55, bmi \< 25). the double-blind, randomized, parallel-designed study will start with a two-weeks run-in period, followed by an eight-weeks supplementation period. after the run-in period, one week and eight weeks of oil supplementation blood will be drawn and 24-h urine will be sampled. altogether, the fatty acid distribution after echium oil and linseed oil supplementation from similar subjects can be statistically analysed.

Eligibility criteria:
inclusion criteria: * healthy subjects exclusion criteria: * cholesterol lowering drugs * chronic diseases * pregnancy, lactation * intake of nutritional supplements

Keywords: conversion of ala
does electromyography improve precision and reliability of neuromuscular monitoring in paediatric patients

Conditions: Neuromuscular Blockade, Residual; Postoperative Complications

Summary: neuromuscular monitoring is used as a standard surveillance method of neuromuscular function to ensure full recovery at the end of anaesthesia. the currently available devices properly provide respective information in adults but not in children. furthermore, response to neuromuscular blocking agents differs between adults and children due to age-related differences in body composition, physiological function, and acetylcholine receptor density. recently, electromyographic (emg) technologies to monitor neuromuscular function were increasingly developed including disposables for nerve stimulation and measurement of the compound muscle action potential in children. however, it is still unclear whether the precision and reliability of these devices is superior to the currently available neuromuscular monitoring for children based on kinemyography (kmg). the etcetera study will test the hypothesis that neither emg nor kmg provides inferior train-of-four readings to the respective reference method in infants and children below five years.

the etcetera trial is a randomized clinical agreement study which will prospectively enrol sixty-four children below five years of age scheduled for elective, non-cardiac surgery requiring general anaesthesia and neuromuscular blockade for optimisation of surgical conditions. the children's neuromuscular function is measured on one hand with emg and on the other hand with kmg in a randomised fashion. additionally, randomisation will be stratified upon age groups: 1) neonates: birth to \ 3 months to ≤2 years, 4) children \>2 years to \<5 years. based on the high failure rate of currently available neuromuscular monitoring devices in infants and neonates, in this randomised agreement study we will primarily compare precision and reliability of emg and kmg-measured train-of-four (tof) values during spontaneous recovery from a rocuronium-induced neuromuscular blockade in neonates, infants, toddlers, and children \<5 years using the age-appropriate paediatric sensors.

Eligibility criteria:
inclusion criteria: * children and infants \< 5 years * non-cardiac surgery requiring general anaesthesia and neuromuscular blockade * signed informed written consent * american society of anesthesiologists physical status \<4 * intraoperative positioning with access to both arms exclusion criteria: * allergy to neuromuscular blocking agents * allergy to neuromuscular monitoring adhesive electrode * neurologic disease * surgical procedures outside the operating room * children receiving neuromuscular blocking agents immediately before surgery

Keywords: electromyography neuromuscular blockade postoperative complications
prolutex in frozen embryo transfer cycles at the blastocyst stage (progex)

Conditions: Infertility

Summary: the objective of this proof of concept clinical trial is to evaluate the impact of two different progesterone treatments for endometrial preparation (25 mg/twice-a-day, subcutaneous injection, and 200 mg/three times a day, vaginal administration) on the clinical pregnancy rate in women undergoing frozen embryo transfer (fet) at blastocyst stage.


Eligibility criteria:
inclusion criteria: * women attending the clinics to undergo a frozen blastocyst embryo transfer, having given written informed consent, with the following characteristics: * 18-49 years of age for subjects undergoing et with donated oocytes (both inclusive); * 18-37 years of age for subjects undergoing et with autologous oocytes (both inclusive); * bmi \<32 kg/m2; * adequate endometrium preparation (endometrial thickness \> 7 mm) and e2 levels ( \>100 pg/ml) on the day progesterone treatment is started; * p4 levels \<1.5 ng/ml on the day progesterone treatment is started; * transfer of 1 or 2 frozen embryos at blastocyst stage * transfer of frozen embryos of quality a and/or b according to gardner criteria1; * semen from ejaculation either from the partner or from a bank * ≤ 3 previous et (frozen and fresh) with no pregnancy * normal uterine cavity (i.e. no polyp or protruding sub-mucosal fibroid). exclusion criteria: * presence of functional follicles \> 10 mm of diameter on the day progesterone treatment is started; * intramural uterine fibroids that distort the uterine cavity or polyps \>1 cm; * stage iii or iv endometriosis (endometriomas); * hydrosalpinx; * pregnancy or lactation * malformations of the sexual organs incompatible with pregnancy; * patients affected by pathologies associated with any contraindication of being pregnant; * known allergy to progesterone preparations or their excipients; * uncontrolled adrenal or thyroid dysfunction; * undiagnosed vaginal haemorrhage; * history of, or current arterial disease; * patients with hepatic impairment; * hiv, hepatitis b virus or hepatitis c virus seropositive; * neoplasias (current) or history of neoplasia that may be responsive to progesterone; * high grade cervical dysplasia; * active thrombophlebitis or thromboembolic disorders, or a history of hormone-associated thrombophlebitis or thromboembolic disorders; * currently dependent on alcohol, drugs or psychotropic drugs * history of recurrent pregnancy loss defined as 3 or more spontaneous miscarriages wherein pregnancy developed to a minimum of a gestational sac on transvaginal ultrasonography; * participation in a concurrent clinical trial or another trial within the past 2 months; * use of concomitant medications that might interfere with the study evaluation: hormonal treatments other than those used in the study, except thyroid hormones.
balance, activity and quality of life

Conditions: Advanced Cancer

Summary: background: advanced cancer may cause functional limitations, subsequently leading to decreased ability to perform and engage in everyday activities, such as self-care, household, leisure and civic life. in addition, people with advanced cancer need alleviation from the pain and sorrow following limited life expectancy wherefore they prefer to focus on everyday life function and activities, lightness and enjoyment. the overall aim of the balance, activity and quality of life (bal) project is to develop, test and evaluate effectiveness and process of a resource-oriented intervention which coordinates rehabilitation and palliative care to enhance quality of life (qol), balance and enjoyment in everyday activities and functioning. the development of the intervention is guided by the british medical research council's guidance (mrc). the present study consists of a resource-oriented intervention, which will be feasibility tested in the research clinic of rehpa, the danish knowledge centre for rehabilitation and palliative care. the study will inform the development of a resource-oriented program for people with advanced cancer. material and methods: a feasibility study designed as a one-armed, pre-post study with follow-up after five days and again after 6 and 12 weeks. the study will recruit 20-25 home-living adults (⩾18 years) with chronic or advanced cancer reporting needs in everyday life. outcomes are quality of life, physical function and fatigue assessed using the european organisation for research and treatment of cancer quality-of-life questionnaire core 30 (eortc qlq c-30). furthermore, balance in everyday activities will be assessed using the occupational balance questionnaire 11 (obq-11). besides outcomes, process data will also be collected regarding: 1) fidelity, 2) adherence, 3) dose and 4) reach and mechanisms of impact with attention to participant's experiences of and interactions with the intervention. these data will be collected using registration forms, questionnaires, participant-observations and focus-group interviews.


Eligibility criteria:
inclusion criteria: * home-living adults * diagnosed with chronic or advanced cancer * report a need of support in everyday life and to better balance everyday life with necessary and meaningful activities * motivated and able to participate in the intervention * know sufficient danish to complete questionnaires and participate in interviews exclusion criteria: * dependent in basic activities of daily living (personal care, dressing and eating) * not able to complete questionnaires and participate in interviews * severe cognitive deficits
effects of photobiomodulation therapy (pbmt) in total hip arthroplasty

Conditions: Arthroplasty, Replacement, Hip

Summary: osteoarthritis (oa), a chronic degenerative muscle disease characterized by cartilage wear, causes progressive joint deformity and loss of function leading to the indication of total hip arthroplasty (tha), when conservative treatments fail. surgical trauma leads to pain and induces an immune response. photobiomodulation therapy (pbmt) has proven effective in tissue repair by modulating the inflammatory process and promoting pain relief. it can therefore be part of the treatment. this study aims to analyze the effect of pmbt on inflammation and pain of patients who underwent total hip arthroplasty. the study consisted of eighteen patients who underwent hip arthroplasty and they received phototherapy in a period from 8 to 12 hours after surgery. we divided the patients into two groups (n=9 each) placebo and effective phototherapy. the patients were evaluated before and after phototherapy with 9 diodes, applied to 5 points along the scar (1 laser 905nm, 4 leds 875nm and 4 leds 640nm, 40.3j total), by visual analogue scale (vas) and blood collection for analysis of the levels of the cytokines tnf-α, il-6 and il-8.


Eligibility criteria:
inclusion criteria: - men and women with clinical diagnosis of oa based on radiological images in the anteroposterior and profile according to demur classification. exclusion criteria: - men and women with other clinical diagnosis

Keywords: total hip arthroplasty (tha) phototherapy low-level laser therapy light-emitting diodes
donor-derived ex-vivo expanded natural killer cell infusions in children and young adults with high risk acute myeloid leukemia receiving myeloablative hla-haploidentical hematopoietic cell transplant

Conditions: Acute Myeloid Leukemia

Summary: this is a phase ii pilot study to determine the efficacy of three fixed dose (1 x 108/kg) infusions of ex-vivo expanded human leukocyte antigen (hla)-haploidentical donor natural killer (nk) cells (haplonk) in children and young adults with high risk acute myeloid leukemia (aml) undergoing hla-haploidentical hematopoietic cell transplant (haplohct) with a busulfan and cyclophosphamide-based myeloablative conditioning regimen and post-transplant cyclophosphamide (ptcy) for graft versus host disease (gvhd) prophylaxis. the investigators will also demonstrate the feasibility of performing this trial in a multi-center study. the investigators hypothesize that the infusion of haplonk in this setting will facilitate immune reconstitution and decrease relapse rates and infectious complications without increasing gvhd, resulting in improved survival as compared to recent historical cohorts of haplohct without nk cell infusion.


Eligibility criteria:
inclusion criteria: * age ≤ 25 years at time of enrollment * high-risk aml, as defined by one of the following: * aml in cr1 (defined as \<5% blasts in bm by morphology and flow cytometry) having at least one of these high-risk features: * mutations associated with high risk disease (appendix a). other high-risk features not explicitly stated in appendix a can be considered after discussion/approval with the protocol chair/team * mrd-positive at the end of induction i chemotherapy (defined as flow cytometry ≥ 0.1% blasts) * aml in ≥cr2 (defined by \<5% blasts in bm by morphology and flow cytometry) * recovery from prior cycle of chemotherapy as defined by an absolute neutrophil count ≥ 500/mm3 * aml secondary to select germline marrow failure disorders (with exception of fanconi anemia) may be eligible but require approval from protocol chairs prior to enrollment. * performance status ≥70% (lansky for \<16 years; karnofsky for ≥16 years) * adequate major organ system function as demonstrated by: * renal: creatinine clearance (crcl) ≥60 ml/min/1.73m2 by cockcroft-gault formula, schwartz formula, or nuclear gfr study (table 3) * hepatic: total bilirubin \<2 mg/dl (unless due to gilbert syndrome) and alt and ast \< 5x uln * cardiac: lvef at rest ≥50% or sf ≥27% (by muga or echo) * pulmonary: dlco, fev1, and fvc ≥ 50% of predicted corrected for hemoglobin. for patients \ 92% on room air by pulse oximetry and on no supplemental o2 at rest * the patient, patient's parent, guardian, or legal representative can provide written informed consent exclusion criteria: * active extramedullary disease * unresolved/ongoing and serious viral, bacterial, or fungal infection despite appropriate treatment * positive pregnancy test in a female of child-bearing potential (fcbp) * inability to comply with medical therapy or follow-up * prior allogeneic transplant * patients with fanconi anemia and down syndrome
testing star and texstar: a video and text messaging intervention

Conditions: Sexual Violence; Posttraumatic Stress Disorder; Opioid Use; Opioid Misuse

Summary: this nida-funded heal initiative: opioid use disorder care pathways for individuals with histories of exposure to violence r61 seeks to develop and test a brief video intervention to deliver during sexual assault nurse examiner (sane) care and a brief text messaging intervention to deliver in the month after the assault to prevent the onset or escalation of ptsd and opioid misuse among survivors of sexual assault.

this pilot trial is part of a larger r61/r33 to test the effectiveness of brief video and text messaging interventions on ptsd and opioid misuse among recent survivors of sexual assault presenting for medical care. in the r61 phase, researchers are working with a sexual assault advisory board to develop the video and text interventions. the research team is partnering with 5-6 sexual assault nurse examiner programs across the united states to recruit 50 participants. in this pilot trial, researchers aim to test the feasibility of recruitment strategies, acceptability of the interventions among survivors, and preliminary effectiveness of the interventions at addressing ptsd and opioid misuse.

Eligibility criteria:
inclusion criteria: * are 18 or older * can read and respond to questions in english * are receiving a sane exam for sexual assault victimization within the previous week (7 days) * not currently or about to be hospitalized for severe injuries, suicidality, or psychosis * not currently or about to be incarcerated exclusion criteria: * patients under age 18 * those who cannot read and respond to questionnaires in english * those seeking care that does not include a sane exam * those who cannot consent to receive sane care. * those who are currently or about to be hospitalized for severe injuries, suicidality, or psychosis * those who are currently or about to be incarcerated (e.g., suspects, those who have experienced sexual assault within a prison setting and are returning to that setting, etc)
result: reliable, emergent solution using liprotamase treatment

Conditions: Exocrine Pancreatic Insufficiency; Cystic Fibrosis

Summary: liprotamase powder is a non-porcine, soluble and stable mixture of biotechnology-derived lipase, protease, and amylase digestive enzymes. the purpose of the present study is to to evaluate the non-inferiority of liprotamase compared with porcine-derived, enterically-coated pancreatic enzyme replacement therapy (pert). the primary efficacy endpoint of the study will be comparative efficacy measured as the change from baseline in the coefficient of fat absorption (cfa) in cystic fibrosis patients with exocrine pancreatic insufficiency (epi).


Eligibility criteria:
inclusion criteria: * diagnosis of cystic fibrosis based on presentation, genotype and/or sweat chloride * fecal elastase \<100 mcg/g stool * good disease control with porcine pert prior to enrollment * good nutritional status exclusion criteria: * history or diagnosis of fibrosing colonopathy * distal intestinal obstruction syndrome in 6 months prior to screening * receiving enteral tube feedings * chronic diarrheal illness unrelated to pancreatic insufficiency * liver abnormalities, or liver or lung transplant, or significant bowel resection * forced expiratory volume in 1 second (fev1) \<30%
efficacy and safety study of mp-513 in combination with sulfonylurea in patients with type 2 diabetes

Conditions: Type 2 Diabetes Mellitus

Summary: the purpose of this study is to evaluate the safety and efficacy of mp-513 (teneligliptin) in combination with sulfonylurea in patients with type 2 diabetes for 12 weeks administration and to evaluate the safety and efficacy of mp-513 in combination with sulfonylurea with an extension treatment for up to 52 weeks.


Eligibility criteria:
inclusion criteria: * patients who are 20 - 75 years old * patients who are under dietary management and taking therapeutic exercise for diabetes over 12 weeks before administration of investigational drug * patients whose hba1c is between 7.0% and 10.0% * patients who took sulfonylurea for diabetes over 12 weeks before administration of investigational drug * patients who were not administered diabetes therapeutic drugs prohibited for concomitant use within 12 weeks before administration of investigational drug exclusion criteria: * patients with type 1 diabetes, diabetes mellitus caused by pancreas impairment, or secondary diabetes (cushing disease, acromegaly, etc) * patients with class iii/iv heart failure symptoms according to nyha functional classification * patients who are gastrointestinal disorder (diarrhea, vomiting) * patients with serious diabetic complications * patients who are the excessive alcohol addicts * patients with severe hepatic disorder or severe renal disorder * patients who are pregnant, lactating, and probably pregnant patients, and patients who can not agree to contraception

Keywords: insulin resistance