Kornimate/medical-research-clean huggingface dataset:
open-label extension study evaluating long term safety in patients with type 1 gaucher disease receiving drx008a (ert)

Conditions: Gaucher Disease

Summary: gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (gcb). due to the deficiency of functional gcb, glucocerebroside accumulates within macrophages leading to cellular engorgement, organomegaly, and organ system dysfunction. the purpose of this study is to evaluate the long term safety of enzyme replacement therapy with drx008a (vpriv®, ga-gcb; velaglucerase alfa) in patients with type 1 gaucher disease.

type 1 gaucher disease, the most common form, accounts for more than 90% of all cases and does not involve the central nervous system (cns). typical manifestations of type 1 gaucher disease include hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, growth retardation, pulmonary disease, and decreased quality of life. gene-activated® human glucocerebrosidase (the long term safety of enzyme replacement therapy with drx008a (ga-gcb; velaglucerase alfa) is produced in a continuous human cell line using proprietary gene-activation technology and has an identical amino acid sequence to the naturally occurring human enzyme. ga-gcb (velaglucerase alfa) contains terminal mannose residues that target the enzyme to the macrophages-the primary target cells in gaucher disease. this study was designed to evaluate the long term safety of ga-gcb (velaglucerase alfa) in patients with type 1 gaucher disease

Eligibility criteria:
inclusion criteria: * patients who have completed through week 41 visit in the tkt025 study. * patients must have voluntarily signed an irb/ec approved informed consent form after all relevant aspects of the study have been explained and discussed with the patient. * patient must be sufficiently cooperative to participate in this clinical study as judged by the investigator. * female and male patients of child bearing potential must agree to use a medically acceptable method of contraception at all times during the study. female patients must have a negative serum pregnancy test on enrollment. exclusion criteria: * patient has received treatment with non-gaucher disease related investigational drug or device within the past 30 days prior to study entry; such use during the study is not permitted. * patient has a clinically relevant medical condition (e.g., hiv, hepatitis b or c) that would make implementation of the protocol difficult and/or confound an assessment of the effects of the experimental therapy and its adverse events. * patient, patient's parent(s), or patient's legal guardian is unable to understand the nature, scope and possible consequences of the study. * patient is unable to comply with the protocol, e.g. uncooperative attitude, medical condition, inability to return for safety evaluations, or is otherwise unlikely to complete the study, as determined by the investigator.

Keywords: gaucher disease, enzyme replacement therapy
a 24-week efficacy, safety and tolerability of rivastigmine patch study in patients with probable alzheimer's disease

Conditions: Alzheimer's Disease

Summary: the purpose of this study is to assess the efficacy, safety, and tolerability of exelon® patch in patients with probable ad (mmse 10-20), in order to support a planned regulatory submission and registration of exelon transdermal patch in china. the study is designed to confirm the non-inferiority of the efficacy of exelon patch (target 10 cm² patch size) versus exelon capsules (target 6.0 mg bid dose) on cognition, using the alzheimer's disease assessment scale-cognitive subscale (adas-cog).


Eligibility criteria:
inclusion criteria: * have a diagnosis of dementia of the alzheimer's type according to the diagnostic and statistical manual of mental disorders, 4th edition (dsm-iv) criteria; * have a clinical diagnosis of probable ad according to nincds/adrda criteria. * have a brain scan (magnetic resonance imaging (mri) or computed tomography (ct)) consistent with the diagnosis of ad. the brain scan must have been performed within one year prior to randomization; * have an mmse score of ≥ 10 and ≤ 20; * have sufficient education to have been able to read, write, and communicate effectively during the premorbid state; * be residing with someone in the community throughout the study or, if living alone, in contact with the primary caregiver everyday; exclusion criteria: * have an advanced, severe, progressive, or unstable infectious, metabolic, immune, endocrinologic, hepatic, hematological, pulmonary, cardiovascular, gastrointestinal, and/or urological condition that may interfere with efficacy and safety assessments or put the patient at special risk; * have a history or current diagnosis of any medical or neurological condition other than ad that is identified as contributing cause of the patient's dementia; * have a current diagnosis of probable or possible vascular dementia according to the national institute of neurological disorders and stroke and the association internationale pour la recherche et l'enseignement en neurosciences criteria (ninds-airen); * have a score of \> 4 on the modified hachinski ischemic scale (mhis); * have a current dsm-iv diagnosis of major depression, unless, in the opinion of the investigator, is in remission for at least 12 weeks; other protocol-defined inclusion/exclusion criteria may apply

Keywords: alzheimer's rivastigmine patch dementia
health effects of commuter cycling

Conditions: Prevention

Summary: the purpose of this study is to determine whether cycling to school is effective in the prevention of the metabolic syndrome.

physical activity plays a crucial role in relation to prevent a clustering of risk factors. in adults a lower all-cause mortality has been found in those cycling to work compared to inactive commuters. it thus seems possible that cycling to school will entail health beneficial effects for children.

Eligibility criteria:
inclusion criteria: * passive commuted to school last 6 months, own a bike exclusion criteria: * less than 2 km to school

Keywords: commuter cycling fitness metabolic syndrome children
pro-vegetarian diets, microbial/metabolite profiles and cancer

Conditions: Dietary Habits; Food Habits; Nutrition, Healthy; Cancer; Metabolic Disease

Summary: this projects aims to characterize dietary habits and nutrition quality of pro-vegetarian diets as compared to omnivorous diets. it also aims to stablish gut microbial and metabolit profiles of this dietary pattern, in order to elucidate the role of plant-based diets in cancer prevention and treatment.

plant-based foods (fruits, vegetables, cereals, nuts and seeds, legumes, and vegetable oils) are the main source of fiber and other bioactive compounds in the diet. plant-based diets are therefore assumed to prevent mortality and the ocurrence of chronic diseases including cancer. however, evidence on this issue is still scarce, and the mechanisms and drivers of their potential health benefits are also only partially known. the main objectices of this project are: 1. to develop and validate dietary assessment methods for the vegetarian population 2. to assess dietary habits and consumer beliefs of vegetarians with respect to omnivores, considering different types of vegetarian diets 3. to identify a gut microbiota signature related to plant-based diets from subgroups of subjects following a plant-based diet foods (vegans, lacto-vegetarians, ..., and pro-vegetarians) and omnivorous subjects (non-plant-based diets), from stool metagenomic sequencing. 4. to relate this signature with metabolites present in faeces (related to the presence of certain microbial species) and in urine to improve the predictive capacity of the microbial signature of vegetable diets. 5. validate the signature using independent study populations, and including colorectal and breast cancer survivors as another study target.

Eligibility criteria:
inclusion criteria: - exclusion criteria: * pregnancy or lactation * antibiotic treatment in the previous 2 weeks

Keywords: dietary patterns vegetarian omics microbiome cancer metabolism
effectiveness of astym treatment for de quervain's tenosynovitis

Conditions: de Quervain's Disease

Summary: to determine if the addition of astym treatment to traditional therapy produces a more positive outcome then traditional therapy alone for the treatment of de quervain's tenosynvitis. two groups will be examined with one group receiving traditional therapy and the other group receiving traditional therapy in addition to astym treatment protocol.


Eligibility criteria:
inclusion criteria: i. positive finkelstein's test: the client will report pain over the first compartment of the extensor retinaculum when the thumb is tucked in the hand and deviated ulnarly. ii. persistent symptoms for \>3 wks which have not resolved after an additional 3 weeks of splinting iii. a diagnosis by a physician of "de quervain's", "fist compartment tenosynovitis", or "radial styloid tenosynovitis" iv. patients must agree and comply to a predetermined splinting regimen exclusion criteria: i. history of cortical steroid injection to affected wrist and/or thumb ii. history of previous wrist trauma to affected limb iii. comorbidity such as carpal tunnel syndrome (cts), radial tunnel syndrome, osteoarthritis, rheumatoid arthritis, auto-immune disease or inflammatory conditions, lateral epicondylitis or tendinopathies iv. clotting deficits v. positive cozen's sign which would indicate intersection syndrome vi. post-partum mothers \<6 months and pregnant women

Keywords: de quervain's disease de quervain's tenosynovitis. astym de quervain's treatment
oral capsule faecal microbiota transplantation for cpe decolonization

Conditions: Carbapenem-Resistant Enterobacteriaceae Infection

Summary: double-blinded, randomised controlled trial to evaluate the clinical efficacy of a single dose of oral capsule-administered faecal microbiota transplantation (fmt) for carbapenemase-producing enterobacteriaceae (cpe) intestinal decolonisation compared with placebo. primary outcome is the proportion of patients successfully decolonised of cpe intestinal carriage at 12 weeks after fmt treatment compared with placebo.


Eligibility criteria:
inclusion criteria: * admitted as inpatient at the study site at the time of screening. * aged ≥21 years at the time of screening. * sufficiently ambulant to return for outpatient clinic study visit. * detection of cpe (result reported by clinical microbiology laboratory). * ability to provide informed consent. * females of childbearing potential who are sexually active with a non-sterilised male partner must agree to use at least one method of effective contraception for the duration of the trial. * colonisation of the gastrointestinal tract with cpe, confirmed by at least one positive rectal swab taken ≤7 days before randomisation (direct pcr testing using xpert carba-r, performed by study team independent of the hospital screening protocol). * ability to swallow "safety test" capsule (one test capsule given during pre-randomisation evaluation). * antibiotics ceased for at least 48 hours before pre-randomisation evaluation. * negative urine pregnancy test for pre-menopausal women taken ≤7 days before randomisation exclusion criteria: * presence of acute diarrhoeal illness (e.g. gastroenteritis, c. difficile colitis) or chronic diarrhoeal illness (e.g. irritable bowel syndrome or inflammatory bowel disease, unless they are in remission for at least 3 months prior to enrolment). * current use or planned use of an investigational drug within 3 months of enrolment. * presence of significant immunosuppression, including but not limited to: use of monoclonal antibody, use of prolonged steroids equivalent to prednisolone dose of ≥20mg/day for ≥28 days, solid organ transplantation, bone marrow transplantation, hiv infection with cd4 count of ≤200, bone marrow transplant, ongoing chemotherapy or radiation therapy, and congenital immunodeficiency. * oropharyngeal dysphagia, significant oesophageal dysphagia, or other inability to swallow. * history of surgery altering gastrointestinal anatomy (e.g. colostomy, colectomy). * ileus or small bowel obstruction. * risk of aspiration. * history of gastroparesis. * severe food allergy (anaphylaxis or anaphylactoid reaction). * adverse event attributable to previous fmt. * those who are pregnant or plan to be pregnant within 3 months of enrolment. * those who are breastfeeding or plan to breastfeed during the trial. * life expectancy \<3 months.
the effects of exercise training in vascular function of patients living with hiv

Conditions: HIV/AIDS

Summary: introduction: it is well known that the infection caused by the human immunodeficiency virus (hiv) is associated to a higher cardiovascular event risk. on the other hand, it is clear that the aerobic exercise training induces improvements in autonomic control and vascular function, through increases in vasodilator agents and blood vessels number. however, the investigators could not find previous works that studied the microvascular function in response to exercise training in hiv patients. objectives: to study the impact of aerobic exercise training in endothelial function of hiv patients. in addition, the investigators will verify the association of the physical fitness to the nitric oxide bioavailability, angiogenesis and lipid profile in hiv patients. methods: the study subjects will be composed by hiv patients, that will be randomly divided in two different groups: exercised and sedentary. the subjects will be tested before and after training in regards to endothelial function, nitric oxide bioavailability, physical fitness and lipid profile, through flowmetry, colorimetric essays, maximal cardiopulmonary exercise test, and biochemical tests; respectively. the exercise training will be performed in a treadmill for 12 weeks, 3 times a week, 40 minutes each section. expected results: the investigators expect to achieve markers that will help in understanding the interaction of hiv with several factors that contribute to an increased endothelial function after exercise training.

hiv-infection triggers a massive oxygen reactive species production, increasing oxidative stress and vascular complications. despite the importance of therapeutic strategies in reducing the cardiovascular risk among hiv-infected patients (hivp), exercise-related effects upon macro-and-microvascular endothelial function and oxidative stress in hivp have not been previously reported.

Eligibility criteria:
inclusion criteria: * sedentarism for at least 6 months; * diagnosis of hiv infection. exclusion criteria: * opportunistic diseases; * nephropathies; * cardiovascular diseases; * locomotor limitations; * liver diseases.

Keywords: vascular function physical training laser speckle contrast imaging
changes in pituitary iron and volume with deferasirox

Conditions: Iron Overload

Summary: despite continuing advances in iron chelation therapy, iron toxicity of endocrine glands, particularly the pituitary gland, remains common in patients with transfusion dependent anemias. we would like to establish accurate population norms of pituitary r2 and volume and understand the progression of pituitary iron in transfused patients on deferasirox.


Eligibility criteria:
inclusion criteria: * currently on chronic transfusion therapy. * duration of chronic transfusion \>1 year. * age 2 to 25 years * on deferasirox monotherapy for the duration of the study. * informed consent from legal guardian and/or patient. * on deferasirox for a minimum of 3 months at start of study. exclusion criteria: * sickle cell disease or sickle-beta zero genotype. * combination of deferasirox and another iron chelator.
burden of disease study in patients with transthyretin familial amyloidosis polyneuropathy (ttr-fap) ortransthyretin cardiomyopathy (ttr-cm) and caregivers

Conditions: Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP); Transthyretin Cardiomyopathy (TTR-CM); Familial Amyloid Cardiomyopathy; Senile Systemic Amyloidosis (SSA)

Summary: this study is an online (web-based) or paper-based survey for patients with transthyretin familial amyloidosis polyneuropathy (ttr-fap) and caregivers. the results will be used to describe the emotional, physical, and financial impact of having ttr-fap or caring for someone who has the disease.

convenience sample of patients and caregivers recruited through patient advocacy groups. convenience sample.

Eligibility criteria:
inclusion criteria: * adults (ages 18-85 years inclusive) diagnosed with ttr-fap or ttr-cm and experiencing symptoms or currently providing care for a patient with ttr-fap or ttr-fap exclusion criteria: * caregivers who formally care for a ttr-fap or ttr-cm patient as part of their job description and receive payment for their services.

Keywords: survey burden of illness caregivers ttr-fap ttr-cm familial amyloid polyneuropathy observational transthyretin familial amyloidosis
minimum effective intrathecal dose of local anaesthetic with fentanyl for fractured neck of femur(dose finding study).

Conditions: Minimum Effective Dose of Local Anaesthetic With Fentanyl

Summary: fractured neck of femur (fnf) is a common cause of admission to hospital in elderly patients with multiple comorbidities. anaesthetic management of this patient group is extremely challenging.neuraxial anaesthesia with minimum doses of local anaesthetic agents administered via a spinal catheter leads to better cardiovascular stability.the minimum dose of local anaesthetic with intrathecal fentanyl was not established yet.we propose to study and determine the initial minimum local anaesthetic dose (mlad) of 0.5% bupivacaine with 20 mcg of fentanyl administered via a spinal catheter to achieve a sensory block up to t10 for the operative fixation of fnf.we will use a previously well established dixon and massey "up-and-down method" to calculate initial mlad in this prospective, observational trial. objectives: we would like to determine the initial mlad of 0.5% bupivacaine with 20mcg of fentanyl administered via a spinal catheter required to achieve a sensory block up to t10 on the side of fnf. outcomes primary outcome: 1. initial mlad of 0.5% bupivacaine with 20mcg of fentanyl required for a sensory block up to t10 on the side of fnf. secondary outcomes: 2. total dose of 0.5% bupivacaine with 20mcg of fentanyl required for the operative fixation of fractured neck of femur. 3. the effect on haemodynamic variables (blood pressure, heart rate). 4. incidence of side effects 5. the length of postoperative analgesia (the time from the last dose of local anaesthetic administered intrathecally to vas\>3). 6. the time to first rescue analgesic requirement study design prospective, observational trial. study size based on the previously well established dixon and massey "up-and-down method"(10), we will recruit patients until a successful spinal block has been achieved in six consecutive patients who received a specific dose. this is the requirement to calculate the initial mlad.


Eligibility criteria:
inclusion criteria: * fractured neck of femur * above 60 years * american society of anesthetists(asa) i to iii exclusion criteria: * patient refusal * outside age range * contraindications to spinal anaesthesia * head injury or other associated injuries * loss of consciousness and signs of acute coronary syndrome * mini-mental score \< 25 (appendix 2) * allergy to bupivacaine, lignocaine or fentanyl

Keywords: minimum effective dose of local anaesthetic spinal catheter fractured neck of femur a step up, step down methodology
the impact of reducing overtreatment on quality of life in children with refractory epilepsy

Conditions: Intractable Epilepsy

Summary: the primary aim of the study is to determine the effect of reducing the number and/or dose of anti epileptic drugs on an individual's quality of life and seizure control in people with difficult to control epilepsy and who are on polytherapy. this is a randomised trial so children will be divided into two groups, with reduction of anti epileptic drugs in the first group (withdrawal group) and no change to their medications in the second (control group). irrespective of the group the child is assigned to (withdrawal group or control group), we will ask parents to complete several questionnaires on 2 occasions: the first time will be immediately after the child enters the study (i.e. baseline assessment), and a second and last one will be 6 months after entering the study (i.e. follow-up assessment). these questionnaires aim to "quantify" aspects related with quality of life, aed side effects, seizure severity, and behaviour.


Eligibility criteria:
inclusion criteria: * young people aged 6-21 years with intractable epilepsy receiving antiepileptic drug polytherapy exclusion criteria: * none

Keywords: intractable epilepsy, drug reduction, antiepileptic medication
gemhdm2014 : gem-hdm hdt and asct for relapsed/ refractory lymphoma

Conditions: Hodgkin's Lymphoma - Relapsed/Refractory; Non-Hodgkin's Lymphoma - Aggressive; Follicular Lymphoma

Summary: objective of study: to evaluate the safety and efficacy of infusional gemcitabine prior to hdm (high-dose melphalan) as hdct (high dose chemotherapy) followed by autologous stem cell transplantation in patients with relapsed/refractory lymphoma.

high-dose chemotherapy with autologous stem cell transplantation is the current standard of care for patients with chemosensitive relapsed hodgkin's lymphoma and aggressive non-hodgkin's lymphoma, and is an established effective therapy for patients with relapsed follicular lymphoma. disease relapse remains a major problem, occurring in 50% of these patients, particularly in patients with primary refractory disease or other high-risk features. the addition of gemcitabine to single-agent melphalan as a high-dose conditioning regimen presents a promising combination that may lead to improvements in efs (event free survival). if this trial gives encouraging results, it may lead to a phase iii trial evaluating this treatment strategy. drug exposure would be auc (area under curve) and clinical factors would be things like obesity, renal function, disease characteristics. we would be looking at the safety outcomes - i.e. adverse events as a measure of safety and tolerability. the adverse events would be non-hematological toxicities (any) and whether or not it is related to auc. auc in relationship to pfs (progression free survival) is also important (we want to know if we need to adjust dose to improve pfs).

Eligibility criteria:
inclusion criteria: 1. ability to provide written informed consent 2. age over 18 years 3. relapsed/refractory lymphoma after at least 1 prior chemotherapy treatment: 1. hodgkin's lymphoma 2. aggressive non-hodgkin's lymphoma 3. follicular lymphoma 4. chemosensitive disease at time of transplantation (i.e. partial response or better to salvage chemotherapy) 5. ecog (eastern cooperative oncology group) performance 0-2 6. adequate organ function: 1. cardiac: lvef (left ventricular ejection fraction)\>40% 2. pulmonary: fev1 (forced expiratory volume at one second) and dlco (diffusing capacity of lung for carbon monoxide)\>60% predicted 3. renal: creatinine \<150 µmol/l unless caused by ureteric obstruction from lymphoma 4. liver: no evidence of cirrhosis. alt (alanine aminotransferase) and bilirubin \<2x upper limit of normal unless caused by biliary tract obstruction from lymphoma exclusion criteria: 1. clinically significant active infection 2. active secondary central nervous system disease 3. other serious co-morbid illness that would compromise study participation. 4. pregnant or lactating females 5. prior hdct/asct

Keywords: eligible for high-dose therapy and stem cell transplantation