cyrilzakka/clinical-trials huggingface dataset:
Newborn Genomics Programme

Genomic methods can significantly contribute to all facets of precision medicine, from diagnosis to prevention, therapeutic intervention, and management of acute and chronic illnesses. DNA based methods are already having a considerable impact across healthcare in fields that include: public health, infectious disease monitoring, acute and chronic disease, pharmacogenomics, prenatal testing and diagnosis, and therapeutic development. In this proposal, investigators are focusing on the application of genomic methods in precision medicine - specifically on rapid whole-genome sequencing of parents and children (i.e. a trio) for the identification of diseases that have genetic components.

Goals Primary goal: is to provide safe rapid whole genome sequencing to Neonatal Intensive Care Unit/Pediatric Intensive Care Unit patients.

Secondary goals: 1) Although several groups globally are implementing rapid sequencing of rare disease, these are predominantly in the research space, with many unanswered questions regarding the best way to implement them into a national healthcare system. Each country and their healthcare systems are unique, and valuable knowledge will be gained by implementing this process within a New Zealand context. As part of this the study will measure the impact on the individuals and families.

2) to expand the research team's understanding of non-coding disease-causing variants and methylation changes that contribute to severe disease in early life.

Primary Aims

1. To incorporate long-read RNA sequencing data into the diagnostic rapid Whole Genome Sequencing pipeline to provide a direct measure of the functional outcome of the variants of clinical concern.
2. To measure the clinical utility of analysing non-coding variants in the diagnosis of critically ill children who do not have pathogenic, likely pathogenic, or variants of unknown significance for mendelian disorders.
3. To identify, in a real-world setting within the New Zealand health-care system, the clinical and economic effects of deploying rapid Whole Genome Sequencing-informed rapid precision medicine for critically ill children.


Eligibility Criteria:
Inclusion Criteria:

* Acutely ill inpatient
* Admitted to NICU or PICU between April 2023 - March 2026
* Within 1 week of hospitalization or within 1 week of development of abnormal response to standard therapy for an underlying condition
* Suspected genetic condition, without a clear non-genetic aetiology

Exclusion Criteria:

* Patients whose clinical course is entirely explained by
* Isolated prematurity
* Isolated unconjugated hyperbilirubinemia
* Infection or sepsis with expected response to therapy
* A previously confirmed genetic diagnosis that explains the clinical condition -
* Isolated transient neonatal tachypnoea
* Meconium aspiration syndrome
* Trauma
* Inability to source blood and buccal samples for DNA extraction from at least the mother and child
Sleep Behaviors in Pregnancy

The researchers would like to know how long pregnant women spend in different positions during the night - and how often women change positions - across pregnancy. The researchers also want to see if the sleep monitor is able to improve sleep behaviors


Eligibility Criteria:
Inclusion Criteria:

* At least 28 weeks pregnant
* Receiving pre-natal care at Michigan Medicine
* Have either and Android or iPhone smartphone

Exclusion Criteria:

* Less then 28 weeks pregnant
* Receiving pre-natal care external to Michigan Medicine
* Does not poses a smartphone
Multimodal Analysis and Electroretinogram in VKH From Acute Onset - Part I

Patients with acute onset Vogt-Koyanagi-Harada disease (VKHD) were prospectively included in this study. They were systematically followed with clinical, posterior segment imaging exams and full-field electroretinogram during a minimum 24-month of follow-up. All patients were treated with 3-day methylprednisolone pulse therapy followed by 1mg/day oral prednisone with a slow tapper during a median of 13 months. Non-steroidal immunosuppressive therapy (IMT) was introduced in cases of refractory disease or in cases of prednisone intolerance. Outcome measured by full-field electroretinogram was analyzed and patient was grouped as electroretinogram stable or electroretinogram worsening. Clinical data was analyzed in these two electroretinogram-based groups.

Consecutive patients with acute onset VKHD were included and followed for a minimum 24-month as Part I of an ongoing prospective long-term study on VKHD. The main purpose was to understand the course of clinical and subclinical choroidal inflammation in patients receiving early and high-dose corticosteroid followed by high-dose oral prednisone and a very slow tapper. All patients were followed with clinical and posterior segment imaging (PSI) exams, i.e. fundus picture, fluorescein angiography, indocyanine green angiography and enhanced depth imaging optical coherence tomography, at inclusion, 1st month, and thereof every three months. Full-field electroretinogram was performed at inclusion, 1st month, and thereof every six months. Flare was defined as appearance or increase/worsening of inflammatory signs after the initial six-month from disease onset during the predefined treatment protocol. Inflammatory signs were cells in anterior chamber, macular edema; subclinical inflammatory signs were mainly those observed by PSI exams. Scotopic full-field electroretinogram results between 12 and 24 month were the main outcome. Clinical data was analyzed in the full-field electroretinogram-based groups.

Eligibility Criteria:
Inclusion Criteria:

* clinical diagnosis of Vogt-Koyanagi-Harada disease
* acute onset with no previous treatment

Exclusion Criteria:

* non-acute VKHD
* media opacities
Waist Circumference Versus Body Mass Index to Predict Severity of Gastroesophageal Reflux Disease

Gastroesophageal reflux disease (GERD) is a common and important disorder. Previous studies have demonstrated the association of obesity with GERD, and now obesity is regarded as a risk factor for GERD. Moreover, body mass index (BMI), an indicator of general obesity, correlates with severity of symptoms and degree of erosive esophagitis. Waist circumference, an indicator of abdominal obesity, has stronger correlation with intra-abdominal pressure and low-grade inflammatory state when compared with BMI. Nevertheless the association of waist circumference with severity of GERD has not been studied.

The primary aim of this study is to compare BMI with waist circumference for their independent association with severity of GERD. The secondary aim is to evaluate independent risk factors of severity of GERD.

This is a cross-section observational study. Outpatients presenting with acid reflux or heart burn are interviewed with standardized questionnaire to quantify severity of symptoms. The eligible patients undergo upper endoscopy to diagnose erosive esophagitis and further classify the degree of erosions according to Los-Angels classification. Enrolled patients receive anthropometric measurements to record body weight, body height and waist circumference on the day of enrollment.

Two outcomes are studied: the severity of GERD symptoms and the Los-Angels Classification of erosive esophagitis.

Eligibility Criteria:
Inclusion Criteria:

* age more than 20 years old and less than 70 years old
* typical gastroesophageal reflux symptoms (heart burn and acid reflux)
* outpatient
* complete upper gastrointestinal endoscopy

Exclusion Criteria:

* age less than 20 years or more than 70 years old
* receive medication for reflux disease (including proton pump inhibitor, histamine type 2 receptor blocker, prokinetic agents) in previous one month
* pregnant women
* history of abdominal surgery
* severe comorbidity with cirrhosis, end-stage renal disease, heart failure
* no written informed consent
Effects of GLP-1 Receptor Agonist on Fat Redistribution and Inflammatory Status

GLP-1 receptor agonists promote fat redistribution in obese women with type 2 diabetes, reduce liver fat content, improve the inflammation state

As a treatment for type 2 diabetesGlucagon like peptide -1 (Glucan-like peptide-1, GLP-1) receptor agonists plays the role of promoting insulin secretion, inhibiting glucagon secretion，and also has the central and peripheral effects,it can inhibit appetite,reduce weight.GLP-1 receptor agonists promote fat redistribution in obese women with type 2 diabetes, reduce liver fat content, improve the inflammation state

Eligibility Criteria:
Inclusion Criteria:

* Clinical diagnosis of overweight and type 2 diabetes mellitus

Exclusion Criteria:

* Poor body condition (severe liver and kidney dysfunction)
* Unknown causes of pancreatitis, chronic pancreatitis, pancreatic resection, stomach operation, malignant tumor, previous use of systemic corticosteroids (local or inhalation of exceptions) heart function or niacin, incomplete
* serious endocrine disease
* genetic disease
Neuromodulation of Motion Illusions (Vection)

Virtual reality systems or simulators are more and more frequently used in the field of learning but also in motor rehabilitation. One of the key points of the success of these systems is the experience of "presence" which is associated with the capacity of these technologies to develop in the observer, who is static, the sensation of moving in the virtual environment (vection). However, the simulation generates a sensory conflict (an optical flow specifying self-motion and vestibular stimuli specifying body immobility). This conflict influences the temporal characteristics of the vection and consequently modifies the way users act in their virtual environment. Thus, contrary to a real situation, vection does not occur instantaneously with the appearance of a visual movement. Moreover, the visual stimulus often generates alternating periods of perception of movement of the environment and of oneself (bistable perception) which can lead to "simulator sickness", a disabling situation for the user. Thus, as vection is an essential element to allow an "optimal transfer of learning" from the simulator to reality, it may be important to promote its emergence while limiting its bistability.

The aim of this project is to study the inhibitory or facilitative modulation of the emergence of the vection phenomenon by the use of non-invasive cortical stimulation techniques (transcranial electrical stimulation (tES), transcranial alternative current stimulation (tACS), and repeated transcranial magnetic stimulation (rTMS)).


Eligibility Criteria:
Inclusion Criteria:

* Healthy subjects aged 18 to 40 years
* Right-handed subjects
* Signed informed consent,
* Medical examination performed prior to participation in the research,
* Affiliation to or beneficiary of a social security plan

Exclusion Criteria:

* Contraindications (CI) to the practice of MRI, EEG, TMS \& tES
* Existence of a severe general condition: cardiac, respiratory, hematological, renal, hepatic, cancerous,
* Regular use of anxiolytics, sedatives, antidepressants, neuroleptics,
* Characterized psychiatric pathology,
* Ingestion of alcohol before the examination,
* Pregnant, parturient or breastfeeding women
* Person deprived of liberty by judicial or administrative decision, person under a legal protection measure (under guardianship or curators)
* Participation in other interventional research protocols in progress with an exclusion period or in the previous week Subject who would receive more than 4500 euros of compensation due to his participation in other research involving the human person in the 12 months preceding this study
Exercise Training in Treating Diastolic Heart Failure

The purpose of this study is to determine whether endurance exercise of either high or moderate intensity can reverse structural and functional changes of the heart in patients with diastolic heart failure, and to investigate which type of exercise is best in terms of aerobe capacity and quality of life.

The investigators expect that high intensity endurance exercise is superior to moderate intensity endurance exercise.

This study is a prospective randomized controlled intervention study comparing two active arms. Eligible patients are being sampled consecutively by cardiologists, and randomized to either high or moderate intensity endurance exercise. Endpoints are measured at baseline, 4 weeks and 7 months. The intervention is considered safe, and the study has been approved by the Regional Ethics Committee (REK-midt).

This project has been financially supported by the Norwegian ExtraFoundation for Health and Rehabilitation through EXTRA funds.

Eligibility Criteria:
Inclusion Criteria:

* Sedentary lifestyle
* Normal systolic function left ventricular ejection fraction (LVEF) \< 50%
* New York Heart Association (NYHA) class II or III
* Diastolic dysfunction (E/é \< 15 or E/é 8-15 and N-terminal proBNP \> 220pg/ml)
* Medically stable the last 4 weeks
* Written informed consent

Exclusion Criteria:

* Other causes of dyspnea than diastolic heart failure
* Personal preferences or characteristics prohibiting the person from attending inpatient cardiac rehabilitation
* Not able to perform physical exercise
Comparison of Two Treatments to Prevent Invasive Fungal Infections in Patients Who Have Received Liver Transplants

The purpose of this study is to compare the safety and effectiveness of 2 treatments to prevent invasive fungal infections (IFI), which are infections caused by yeasts and molds that are common in patients with weak immune systems or transplant patients. AmBisome, a new treatment, will be compared to fluconazole, the traditional treatment for fungal infections caused by the yeast Candida. Treatment will only be given to liver transplant patients who are found to be at high risk for IFI. Liver transplant patients who are at low risk for IFI will be monitored but will receive no study medication.

IFIs are found mainly in a high risk group of liver transplant patients, and are not common in those with low risk. If IFI preventive therapy is focused on the high risk group, there may be a lesser chance of Candida becoming resistant (able to grow despite the presence of drugs used to kill it). Treating only the high risk group will also save money.

If you are in the high risk group you will be assigned randomly (like tossing a coin) to receive either AmBisome or fluconazole. If you are in the low risk group, you will not receive any treatment. Both groups will be monitored for IFIs. The study will last for 100 days following your liver transplant.

Eligibility Criteria:
Inclusion Criteria:

You may be eligible for this study if you:

* Have had a liver transplant within 5 days of enrollment and agree to receive tacrolimus.

Exclusion Criteria:

You will not be eligible for this study if you:

* Are HIV-positive.
* Have a history of invasive fungal infection.
* Have received antifungal agents within 14 days prior to your liver transplant.
* Are allergic to azoles, amphotericin B, or tacrolimus.
Pharmacologic Response and Safety of Inhaled Insulin in Type 1 Diabetes

The purpose of this study was to compare the pharmacokinetic (PK) response after inhaled insulin administration with 3 different inhalation regimens and with subcutaneous insulin administration.

This first-in-human trial investigated the optimal particle size for absorption of Dance-501, an aerosolized liquid human insulin for inhalation (INH).

Twelve subjects with type 1 diabetes received an INH dose (50 IU) using an inhaler on 4 visits and 6 U insulin lispro (LIS) sc on a separate visit to assess relative bioavailability (FREL) of INH. The inhaler was configured to generate insulin aerosol particles sized 3.5-4.0 μm (low output mesh; LOM), 4.3-4.8 μm (medium output mesh; MOM) or 5.0-5.5 μm (high output mesh; HOM) during low inspiratory flow. To assess within subject variability, MOM was used twice. Pharmacokinetics (PK) were measured up to 8 hours after dosing.

Eligibility Criteria:
Inclusion Criteria:

* Type 1 diabetes mellitus treated with multiple daily insulin injections or continuous subcutaneous insulin infusion and total daily insulin dose less than 1.2 units/kg/day.
* Body mass index 18.0 - 28.0 kg/m2.
* Hemoglobin A1c less than or equal to 9%.
* Forced vital capacity and forced expiratory volume in one second at least 75% of predicted normal values for race, age, gender and height.
* Fasting C-peptide less than 0.3 nmol/L.

Exclusion Criteria:

* Subjects with any condition possibly affecting drug absorption from the lung, in particular subjects with decreased lung function or subjects taking bronchodilators or subjects who smoke.
* Active or chronic pulmonary disease.
* Any clinically significant major disorders other than diabetes mellitus.
* Decompensated heart failure at any time or angina pectoris within the last 12 months or acute myocardial infarction at any time.
* Proliferative retinopathy or severe neuropathy.
Pharmacist Follow-up, a Qualitative Study of Patient Experience

A pharmacist follow-up procedure is under development. Patients with coronary heart disease (CHD) is being followed up by a pharmacist for one year with three meetings; at discharge from hospital, after three months and after one year. The evaluation is basically based on quantitative measures as achievement of therapeutic goals, number of drug related problems detected, hospitalisations etc. However, the patients' own experience with the follow-up procedure cannot be evaluated using these measures. Thus, a qualitative approach is needed. In this study, a total of four patients participating in the follow-up will be included and interviewed. A semistructured interview guide will be used. Interviews will be taped, transcribed and analyzed with the intention to explore how patients experience the follow-up from the pharmacist. A thoruough content analysis will be performed. Patients included must have met the pharmacist at least twice. The pharmacist in charge of the follow-up will recruit patients and hand out study information. Patients will reply to the principal investigator of the study and thus kept anonymous for the pharmacist in charge of the follow-up. No pressure will be put on the patients to join, but it will be emphasized that it will help evaluating the procedure.

See full publication on http://www.biomedcentral.com/1756-0500/7/197 Garcia et al. BMC Research Notes 2014, 7:197

Eligibility Criteria:
Inclusion Criteria:

* must have met the pharmacist at least twice
* living within the area of Tromsoe city so that interviews are possible

Exclusion Criteria

* none as patients are already enrolled in another study
Cancer Treatment Related Cardiovascular Toxicity: Comprehensive Myocardial and Vascular Phenotyping

Observational prospective cohort study designed to assess the mechanisms of fluoropyrimidine induced cardiovascular toxicity.

Fluoropyrimidine (5-FU and Capecitabine) based chemotherapy regimens form the cornerstone of treatments for gastrointestinal (GI) cancers. Fluoropyrimidines however, are associated with the development of cardiovascular toxicity which can take on different forms including chest pain, myocardial infarction, arrhythmias, heart failure and sudden death. The underlying mechanisms of cardiovascular toxicity are not fully understood.

The investigators will use quantitative cardiovascular magnetic resonance perfusion imaging, CT coronary angiography, extra-cardiac vascular assessments and serum cardiac biomarkers to improve insights into the pathophysiology of fluoropyrimidine cardiotoxicity. All enrolled participants in this two centre study will have GI cancers requiring treatment with fluoropyrimidine chemotherapy.

Eligibility Criteria:
Inclusion Criteria:

* Age \>18 years
* Gastrointestinal malignancy
* Receiving fluoropyrimidine chemotherapy

Exclusion Criteria:

* Participants unable or unwilling to provide consent
* Participants that have a conventional contraindication for magnetic resonance imaging (MRI) including permanent implantable cardiac devices, ferromagnetic implants, pregnancy, large body size not fitting into the scanner bore and severe claustrophobia will be excluded
* Participants that have a conventional contraindication for adenosine stress perfusion including a history of trifascicular block or of second-degree heart block or higher on ECG, or uncontrolled asthma.
* Participants with significant renal impairment (eGFR\<30ml/min)
* History of allergy to adenosine, gadolinium or iodinated contrast
* Patients with terminal illness (life expectancy \<6 months) will be excluded.
Efficacy Study of TEPSO® Socks in Improving Palmoplantar Psoriasis

The purpose of this study is to evaluate the efficacy of a special sock, manufactured using TEPSO®, compared to a normal cotton sock in the prognosis of symmetrical palmoplantar psoriasis present for at least one year.

The clinical manifestations of palmoplantar psoriasis have an important impact on well being and quality of life. The manifestation of the disease is often exacerbated by factors such as significant physical and mechanical stress resulting from repeated and prolonged pressure over the affected areas and by everyday clothing. These problems have led the textile industry Lenzi Egisto S.p.A. to conduct some preliminary analyses to find a fabric that meets the specific needs of psoriatic patients in relation to everyday clothing. This preliminary study led to the creation of a particular fabric, TEPSO®, with features specific to the identified needs. This material consists essentially of PTFE (commercially known as Teflon®) and thus presents interesting characteristics that make it suitable for creating garments for patients with psoriasis:

* Excellent flow properties and low surface friction
* non-stick
* Complete biocompatibility and chemical inertness

We can therefore speculate that in palmoplantar psoriasis high smoothness of the fabric and low coefficient of friction may translate into less discomfort felt by patients during normal physical activities, and into improved clinical course of the disease. In the end, it is expected that reduced mechanical compression and friction, would result into partial or complete clinical remission within a few weeks of use.

Therefore we propose to conduct a randomized controlled, double-blind, left-right clinical trial to assess the hypothesis that in palmoplantar psoriasis the use of TEPSO® could induce an improvement of disease and overall quality of life. To better assess the effects of treatment, the use of clothing in the study will be limited to symmetrical psoriatic lesions of feets in order to include areas that are comparable and relevant from a functional point of view.

Eligibility Criteria:
Inclusion Criteria:

* Palmoplantar psoriasis present for at least one year
* Symmetrical foot lesions with at least 5% of the skin surface involvement
* Difference less than or equal to 10% extension of lesions on both sides of the body
* Suspension for over 3 months from start of the study of any systemic drugs for psoriasis, immunosuppressive treatments (cyclosporine, systemic steroids), psoralen plus ultraviolet A irradiation (PUVA) or ultraviolet B phototherapy (UVB)

Exclusion Criteria:

* Nonsymmetrical foot lesions or less than 5% of the skin surface involvement
* Difference of more than 10% extension of lesions on both sides of the body
* Patients who have performed, within 3 months before inclusion in the study, treatments with systemic drugs for psoriasis, immunosuppressive treatments (cyclosporine, systemic steroids), psoralen plus ultraviolet A irradiation (PUVA) or ultraviolet B phototherapy (UVB)