Kornimate/medical-research-clean huggingface dataset:
evaluation of the efficacy and safety of single doses of pf-05089771 in patients with primary (inherited) erythromelalgia

Conditions: Inherited Erythromelalgia

Summary: the purpose of this study is to evaluate the efficacy and safety of single doses of pf-05089771 against placebo in treatment of pain in patients with primary, inherited erythromelalgia.


Eligibility criteria:
inclusion criteria: * male and or female subjects between the ages of 18-78 years * subject has clinical signs of iem * minimum bmi 17.5kg/m2 and total body weight \>50kg exclusion criteria: * other severe pain conditions, e.g. rheumatologic, that may impair subject's self-assessment of pain due to iem. * evidence of clinically significant hypertension, clinically significant hematological, dermatological, renal, endocrine (except diabetes mellitus), pulmonary, gastrointestinal, cardiovascular, hepatic, neurological (other than iem), or allergic disease (including drug allergies but excluding untreated asymptomatic seasonal allergies). * subjects with severe obesity.
single participant study of an experimental aso treatment for tubb4a-related leukodystrophy

Conditions: Genetic Disease

Summary: this research project entails delivery of a personalized antisense oligonucleotide (aso) drug designed for a single pediatric participant with tubb4a associated leukodystrophy.

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 tubb4a mutation associated with severe leukodystrophy with hypomyelination with atrophy of the basal ganglia and cerebellum (h-abc)

Eligibility criteria:
inclusion criteria: * informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s). * ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records. * clinical phenotype and neuroimaging consistent with a diagnosis of tubb4a-related leukodystrophy/hypomyelination with atrophy of the basal ganglia and cerebellum (h-abc) * documented genetic mutation in tubb4a exclusion criteria: * participant has any known contraindication to or unwillingness to undergo lumbar puncture * use of investigational medication within 5 half-lives of the drug at enrolment * participant has any condition that in the opinion of the site investigator, would ultimately prevent the completion of study procedures.

Keywords: leukodystrophy antisense oligonucleotide tubb4a-related leukodystrophy hypomyelination aso
anatomy based selection of ci array for ssd patients

Conditions: Single-Sided Deafness

Summary: the purpose of the study is to evaluate cochlear implant speech outcomes and subjective benefit for cochlear implant recipients with single-sided deafness using patient-specific, anatomy-based array selection versus standard of care with a fixed array size for all patients. subjects will prospectively be assigned to receive an anatomy-based electrode (flex26, flex28, or flexsoft) or the standard of care electrode array (flex28). speech performance and subjective benefit will be evaluated between these two groups.

to determine the effectiveness of anatomy-based electrode selection versus standard of care electrode selection in ssd listeners a prospective, single-blinded study design will be used to evaluate the outcomes in these two groups by evaluating speech understanding in quiet, speech understanding in noise, subjective listening difficulty and sound quality, and datalogging. subjects will be randomly assigned to either group to receive an electrode based on their anatomy (abe) or the standard of care electrode (soce). five participants will be in each group, for a total of 10 participants. all subjects will receive a med-el cochlear implant and will subsequently be fit with an audio processor approved by health canada. post-operative evaluations will occur at one and six months post-activation.

Eligibility criteria:
inclusion criteria: * 18 years of age or older at the time of implantation * unilateral severe to profound sensorineural hearing loss, as defined by a pure-tone average (500, 1000, 2000, and 4000 hz) of 70 db hl or greater * normal hearing mild hearing loss in the non-implanted ear, as defined by a pure-tone average (500, 1000, 2000, and 4000 hz) of 40 db or less * deemed an appropriate candidate by the investigator * fluent in english exclusion criteria: * duration of profound hearing loss of 10 years or more * sudden onset of hearing loss within six months of implantation * evidence of non-functional cochlear nerve using appropriate imaging modality to be determined by the investigator * other retrocochlear hearing loss * evidence of severe cochlear malformation (i.e., common cavity or ossification) * external or middle ear infection * suspected developmental or cognitive concern * other medical contraindication for surgery or anesthesia
vitamin d and vitamin b12 supplementation with pegylated interferon-alfa plus ribavirin for treating chronic hepatitis c

Conditions: RNA Virus Infections; Flaviviridae Infections; Hepatitis C; Hepatitis C, Chronic

Summary: the purpose of this study is to evaluate the effectiveness of the supplementation of vitamins d and b12 in combination with pegylated interferon-alfa and ribavirin in the treatment of genotype 1 chronic hepatitis c, who do not qualify to receive protease inhibitor in brazil.

randomized clinical trial comparing rates of rvr, ervr, eot and svr during standard treatment with pegylated interferon-alfa plus ribavirin compared to the same treatment supplemented with b12 and vitamin d during the treatment period. patients assigned to the vitamin supplementation group will receive the standard treatment of pegylated interferon-alfa plus ribavirin for 48 weeks together oral vitamin d and intramuscular vitamin b12. the control group will receive the same regimen of peguilated alfainterferon plus ribavirin for 48 weeks without any vitamin supplementation.

Eligibility criteria:
inclusion criteria: * genotype 1 hcv infection confirmed a positive test for anti-hcv antibody and detectable serum hcv rna by pcr * pegylated interferon-alfa treatment naïve * liver biopsy with metavir f2 or less * cognitive capacity to understand and sign the informed consent exclusion criteria: * hbv or hiv co-infection * hemoglobin level less than 10 g/dl or total neutrophil count less than 1,500/mm3 or platlet count below 75,000/mm3 * creatinin ≥ 1.5 mg/dl * severe cardiopathy * pregnancy or impossibility to use birth control methods by the couple, or breast-feeding * conditions that, according to the investigator's judgement, preclude participation in the study, including clinical, cognitive or behavioural conditions

Keywords: rna virus infections flaviviridae infections hepatitis c hepatitis c, chronic vitamin d cholecalciferol vitamin b 12
a prospective observational study to assess the reliability and validity of the mlsdt

Conditions: Macular Degeneration; Geographic Atrophy; Stargardt Disease

Summary: the goal of this observational study is to assess the reliability and validity of the 9-object mlsdt for evaluation of participants with moderate to severe vision impairment when tested without a wearable low-vision magnifying aid (eglasses) and then with eglasses. these results will be compared to etdrs testing results for the same participants without eglasses and then with eglasses. two cohorts will consist of participants who have vision loss due to stgd or geographic atrophy (ga) due to age-related macular degenerations (amd). normally sighted participants will provide a control group.

here, we aim to test the accuracy and validate the mlsdt using 9 shapes (instead of 3 shapes) as a reliable, standardized and efficient test of functional vision in stgd and ga patients with impaired vision. this includes evaluation of the performance (retest variability and repeatability) of the test(s) based on patients' visual acuity. furthermore, we will explore descriptive relationships between mlsdt with best-corrected visual acuity (bcva) using the early treatment diabetic retinopathy study etdrs) eye chart.

Eligibility criteria:
inclusion criteria: * males and females, age ≥ 18 years * able to comprehend and give informed consent. * able to comply with testing and all protocol tests. * eligible for 1 of 3 cohorts listed below: cohort 1: normal-sighted participants with clinically normal ocular findings and bcva range 20/16 to \<20/40 in each eye (etdrs letter score 71 - 90) cohort 2: moderately-sight impaired participants with a bcva range of 20/40 to \<20/200 (etdrs letter score of 36 - 70) and a clinical diagnosis of stgd/ga cohort 3: severely-sight impaired participants with a bcva range of 20/200 to 20/800 (etdrs letter score of 5 - 35) and a clinical diagnosis of advanced stgd/ga * clinical diagnosis of stgd for cohorts 2 and 3 * clinical diagnosis for ga (due to amd) for cohorts 2 and 3 * participants who have had anti-vegf therapy 2 weeks prior to enrollment have to demonstrate 3 months of vision stability and be fluid free on oct. exclusion criteria: * concurrent participation in any interventional clinical trial or receipt of an investigational drug within the previous 6 months * presence of any condition other than stgd or ga from amd on slit lamp exam or dilated ophthalmoscopy that impairs visual acuity or visual fields e.g., corneal opacity, visually significant cataract or visual field loss in glaucoma * no intra-vitreal injection with anti-vegf two weeks prior to the study * presence of neurological condition that impairs visual acuity * individuals who refuse or are incapable of performing the mlsdt of bcva tests * individuals with retinal prosthesis (such as argus-ii)

Keywords: multi-luminance shape discrimination test low-vision magnifying aid (eglasses) best-corrected visual acuity (bcva) early treatment diabetic retinopathy study etdrs
efficacy and safety of colesevelam in pediatric patients with genetic high cholesterol

Conditions: Hypercholesterolemia

Summary: this study will evaluate the lipid-lowering effect and safety of colesevelam therapy administered to heterozygous familial pediatric patients 10 through 17 years of age who are on a stable dose of a pediatric-approved statin monotherapy (atorvastatin, lovastatin, simvastatin or pravastatin), or who are treatment naive to lipid-lowering therapy.


Eligibility criteria:
inclusion criteria: * male or female patients * ages 10 to 17 years inclusive * diagnosis of heterozygous familial hypercholesterolemia * on a stable dose of statin monotherapy or are treatment naive to lipid- lowering agents * on a low-cholesterol diet exclusion criteria: * patients should not have serious concomitant conditions that could interfere with the analysis of the results or that could interfere with the well-being of the patients

Keywords: pediatric hypercholesterolemia colesevelam
syncytiotrophoblast-derived extracellular vesicles in placenta previa and accreta spectrum

Conditions: Placenta Previa; Placenta Accreta Spectrum

Summary: the main goal of this case-control study is to quantify the levels of circulating syncytiotrophoblast-derived extracellular vesicles (stbevs) in maternal blood in a population of women with placenta previa and placenta accreta spectrum.

the main goal of this case-control study is to quantify the levels of circulating syncytiotrophoblast-derived extracellular vesicles (stbevs) in maternal blood in a population of women with ultrasound diagnosis of pp with and without postpartum histopathologic diagnosis of pas, compared to pregnant women with normal placentation. the secondary aim of this case-control study is to characterize the multi-omics profiling of stbevs cargo's (proteins, gene and transcripts) isolated from patients diagnosed with pp and pas compared to the control population.

Eligibility criteria:
inclusion criteria: * pregnant women with diagnosis of placenta previa and accreta spectrum (cases) * healthy pregnant women * \> 18 years exclusion criteria: * \< 18 years * twin pregnancies * chronic infections * cancers * unable to give the written consent
vaccine therapy in treating patients with stage i, stage ii, or stage iiia non-small cell lung cancer or with stage i or stage ii mesothelioma

Conditions: Lung Cancer; Malignant Mesothelioma

Summary: rationale: vaccines made from a person's tumor may help the body build an immune response to kill tumor cells. purpose: phase i trial to study the effectiveness of vaccine therapy in treating patients who have undergone surgery to remove stage i, stage ii, or stage iiia non-small cell lung cancer or stage i or stage ii mesothelioma.

objectives: i. define the immunological parameters of cytolytic t cell and t helper cell activity associated with skin testing and vaccination with autologous lung tumor associated antigen and detoxpc in patients with curatively resected stage i, ii, or iiia non-small cell lung cancer (nsclc) or stage i or ii mesothelioma. ii. evaluate any responses associated with an enhanced antitumor immune status in this patient population with this treatment regimen. outline: patients undergo delayed type hypersensitivity skin testing with autologous tumor associated antigen (taa) and memory antigens (i.e., monilia, ppd, and trichophyton) intradermally at 1-4 weeks following surgical tumor resection. at week 4-9, patients receive low dose cyclophosphamide iv once. at 3 days following chemotherapy, patients receive autologous taa with detoxpc intradermally for up to 3 doses over 4 weeks. at 2-3 weeks following vaccination, patients undergo repeat skin testing. at week 6-12, patients with a positive skin test undergo biopsy of the skin test/vaccination site followed by leukapheresis at week 12-20 if t cells exhibit active antitumor reactivity. patients with stable or regressive disease receive additional vaccination courses at week 20 and thereafter. patients are followed for 5 years. projected accrual: a total of 20 patients will be accrued for this study within 2 years.

Eligibility criteria:
disease characteristics: histologically proven primary stage i (t2, n0), ii, or iiia non-small cell lung cancer (nsclc) curatively resected by pneumonectomy, lobectomy, or wedge resection or stage i or ii mesothelioma measurable disease lesions must be at least 3 cm in diameter patient characteristics: age: 20 to 70 performance status: not specified life expectancy: not specified hematopoietic: not specified hepatic: not specified renal: not specified other: no other malignancy except nonmelanoma skin cancer no history of severe allergies no history of autoimmune disease not pregnant prior concurrent therapy: biologic therapy: not specified chemotherapy: not specified endocrine therapy: no concurrent glucocorticoids radiotherapy: not specified surgery: see disease characteristics other: no concurrent nonsteroidal antiinflammatory drugs

Keywords: stage i non-small cell lung cancer stage ii non-small cell lung cancer localized malignant mesothelioma stage iiia non-small cell lung cancer
a study to assess the efficacy and safety of nusinersen (isis 396443) in infants with spinal muscular atrophy

Conditions: Spinal Muscular Atrophy

Summary: the primary objective of the study is to examine the clinical efficacy of nusinersen (isis 396443) administered intrathecally (it) to participants with infantile-onset with infantile-onset spinal muscular atrophy (sma). the secondary objective of the study is to examine the safety and tolerability of nusinersen administered intrathecally to participants with infantile-onset sma.

this study was conducted and the protocol was registered by ionis pharmaceuticals, inc.. in august 2016, sponsorship of the trial was transferred to biogen.

Eligibility criteria:
key inclusion criteria: * be born (gestational age) between 37 and 42 weeks * be medically diagnosed with spinal muscular atrophy (sma) * have survival motor neuron2 (smn2) copy number = 2 * body weight equal to or greater than 3rd percentile for age using appropriate country-specific guidelines * be able to follow all study procedures * reside within approximately 9 hours ground-travel distance from a participating study center, for the duration of the study key exclusion criteria: * hypoxemia (oxygen \[o2\] saturation awake less than 96% or o2 saturation asleep less than 96%, without ventilation support) during screening evaluation * clinically significant abnormalities in hematology or clinical chemistry parameters or electrocardiogram (ecg), as assessed by the site investigator, at the screening visit that would render the participant unsuitable for participation in the study * participant's parent or legal guardian is not willing to meet standard of care guidelines (including vaccinations and respiratory syncytial virus prophylaxis if available), nor provide nutritional and respiratory support throughout the study note: other protocol defined inclusion/exclusion criteria may apply.

Keywords: spinal muscular atrophy sma smn smnrx isis-smnrx isis-smn rx isis 396443 ionis-smnrx ionis-smn rx spinraza endear
validation of a diagnostic score for encephalitis to assess the risk of autoimmune origin

Conditions: Autoimmune Encephalitis; Autoimmune Encephalitis Caused by N-Methyl D-Aspartate Receptor Antibody (Disorder)

Summary: the investigators wish to test a diagnostic risk score for autoimmune encephalitis in case of encephalitis, previously validated by two american teams, in a retrospective analysis, according to the clinical and paraclinical data available in our database of the reference centre for autoimmune encephalitis and paraneoplastic neurological syndromes of professor honnorat for patients with nmdar, anti lgi1, anti caspr2, anti gababr and anti gad antibodies.


Eligibility criteria:
inclusion criteria: * age \> 18 years old * patient with a definite auto-immune encephalitis (graus and al. 2016) exclusion criteria: * uncomplete data in acute phase * patient with several antibodies * opposition

Keywords: diagnostic score auto-immune encephalitis
improved outcomes associated with inositol dietary supplementation in women with gestational diabetes mellitus

Conditions: Gestational Diabetes Mellitus

Summary: objective: insulin resistance during normal pregnancy and in gestational diabetes mellitus (gdm) are unknown. new criteria are based on fasting glucose levels since the beginning of pregnancy. inositol, a putative second messenger of insulin, correlates with the degree of insulin resistance. dietary supplementation of inositol improves insulin resistance in patients with gdm.

methods: a randomized double-blind study was carried out in women with gdm. patients were randomly exposed to inositol and placebo. increase of bmi, blood glucose at 75 grams oral glucose tolerance test (ogtt), fetal and neonatal adverse outcome, and insulin treatment were correlated to inositol exposure.

Eligibility criteria:
inclusion criteria: * singleton pregnant women * random fasting glucose above 92 mg% exclusion criteria: * bmi \>30 * random fasting glucose above 126 mg%

Keywords: inositol gestational diabetes mellitus obstetric adverse outcomes
china amyotrophic lateral sclerosis registry of patients with traditional chinese medicine

Conditions: Amyotrophic Lateral Sclerosis

Summary: a multi-center registration study of clinical characteristics of amyotrophic lateral sclerosis (als) patients with traditional chinese medicine (tcm).

the care-tcm is a prospective, multi-center, patient registry study. eligible als patients with tcm treatments will be enrolled in the registry. after enrollment, this research collects the individual characteristics of patients' status. longitudinal follow-up data are collected from both patients (primary caregivers) and their treating neurologists every 3 months for 5 years. the aims of the care-tcm are to: 1) explore the general characteristics of als patients with tcm and; 2) assess the effectiveness and safety of various tcms on als based on nationwide registry outcome collecting process.

Eligibility criteria:
inclusion criteria: * patients aged 18 years and older. * patients with possible, laboratory supported probable, probable, or definite als according to the revised el escorial criteria. * als patients treated with traditional chinese medicine. exclusion criteria: * patients who refuse informed consent.
trial to compare the safety, tolerability, immunogenicity and efficacy of three dose levels of a liquid formulation of influenza virus vaccine, (caiv-t) in healthy children

Conditions: Healthy

Summary: - trial to compare the safety, tolerability, immunogenicity and efficacy of three dose levels of a liquid formulation of(caiv-t) in healthy children.

- a prospective, randomized, double-blind, placebo-controlled, phase iii, multicenter trial to compare the safety, tolerability, immunogenicity and efficacy of three dose levels of a liquid formulation of influenza virus vaccine, trivalent, types a \& b, live cold-adapted (caiv-t) in healthy children

Eligibility criteria:
inclusion criteria: * •who are aged at least 6 months and less than 36 months of age at the time of first vaccination * who are in good health as determined by medical history, physical examination and clinical judgement * whose parent(s)/legal guardian(s) have provided written informed consent after the nature of the study has been explained * who, along with their parent(s)/legal guardian(s), will be available for duration of the trial (8 months ±1 month) * whose parent(s)/legal guardian(s), can be reached by study staff for the post-vaccination contacts \[telephone, clinic or home visit\]. exclusion criteria: * whose parent(s)/legal guardian(s) are perceived to be unavailable or difficult to contact for evaluation or study visits during the study period with any serious chronic disease (e.g., with signs of cardiac or renal failure or severe malnutrition), including progressive neurological disease * with down's syndrome or other known cytogenetic disorders * with a known or suspected disease of the immune system or those receiving immunosuppressive therapy, including systemic corticosteroids (see section 4.2.1) * who received any blood products, including immunoglobulin, in the period from six months prior to vaccination through to the conclusion of the study * for whom there is intent to administer any other investigational vaccine or agent from one month prior to enrollment through to the conclusion of the study * have an immunosuppressed or an immunocompromised individual living in the same household * who, at any time prior to entry into this study, received a dose of any influenza vaccine (commercial or investigational) * with a documented history of hypersensitivity to egg or egg protein or any other component of the assigned study vaccine * who received aspirin (acetylsalicylic acid) or aspirin-containing products in the two weeks prior to vaccination or for which use is anticipated during the study * with any medical conditions that in the opinion of the investigator might interfere with interpretation of the study results. if any of these criteria are met following enrolment, the subject will be excluded from subsequent vaccine dosing. note: pregnancy in a household member or any person who has regular contact with the subject is not a contraindication to the enrollment or ongoing participation of the subject in the study.