cyrilzakka/clinical-trials huggingface dataset:
Development of Targeted RNA-Seq for Amyotrophic Lateral Sclerosis Diagnosis

Genetic diagnosis of Amyotrophic Lateral Sclerosis (ALS) could identify the origin of the disease, potentially allowing the patient to pursue targeted/gene therapy. However, many familial forms of ALS are genetically undiagnosed, either because no variant has been detected in the genes of interest, or because the detected variant(s) have uncertain significance. Currently, molecular diagnosis takes place in two stages: 1) Search for the GGGGCC expansion in the C9ORF72 gene by RP-PCR; 2) Analysis of the coding regions by high-throughput sequencing of a panel of 30 genes involved in ALS.

Many of these variants of uncertain significance affect splicing. Their impact can be predicted using in silico tools, but only an analysis of the patient's RNA can confirm their pathogenic nature. Currently, the analysis of transcripts is only done a posteriori, when a variant predicted to impact splicing is detected on the patient's DNA. RT-PCR followed by Sanger sequencing then verifies the impact of the splice variants. This method confirmed the impact of certain splice variants in patients. However, this method is time-consuming and requires custom development, and is mutation/gene/patient-dependent. In contrast, high-throughput RNA sequencing (RNA-Seq) simultaneously analyzes the splicing of numerous genes, with a global approach, applicable to all patients. This approach avoids the custom design of primers, which can be biased by the interpretation of splicing predictions, while RNA-Seq systematically captures and sequences all the transcripts. Finally, RNA-Seq provides additional information compared to DNA sequencing such as the detection of exon skipping, intron inclusion, and the creation of fusion transcripts.

In the GTEx project (GTEx Consortium, 2013), expression levels of human genome transcripts were quantified by RNA-Seq. Using these results, the study investigators measured expression of transcripts of known ALS genes in whole blood. Applying a threshold value of 0.5 transcripts per million reads (TPM), 25 of the 30 ALS genes currently analyzed by NGS in routine diagnostics at Nîmes University Hospital could be eligible for a complete analysis by RNA-Seq. None of the French laboratories carrying out genetic analyzes of ALS has yet developed RNA-Seq as a routine diagnostic tool. The study laboratory receives more than 600 requests for genetic diagnosis of ALS patients per year. The aim of this study is therefore to develop a global method for analyzing RNA transcripts of ALS genes to categorize the mutations to improve the diagnostic management of patients.


Eligibility Criteria:
Inclusion Criteria:

* Have a prescription for a genetic diagnosis of ALS (or familial hypercholesterolemia for the control cohort)
* Have given their informed consent for the genetic study and the biobank
* The patient must be a member or beneficiary of a health insurance plan

Exclusion Criteria:

* The patient is under safeguard of justice or state guardianship
Utilization and Compliance of Respiratory Syncytial Virus Monoclonal Antibody Therapy

The purpose of this study is to determine the utilization patterns and compliance rates of palivizumab, which is a monoclonal antibody therapy used to prevent respiratory syncytial virus infection.

Respiratory syncytial virus (RSV) is the most important viral respiratory pathogen in children. Infection due to RSV represents a large public health burden; in Canada, it accounts for 5,800 hospitalizations annually. The peak incidence of RSV disease occurs between 2-6 months of age with half of all infants infected in the first year of life. Palivizumab has been approved for the prevention of serious lower respiratory tract disease caused by RSV in pediatric patients at high-risk of RSV disease. These children include those born premature, those with bronchopulmonary dysplasia (BPD), and those with hemodynamically significant congenital heart disease (CHD).

With the recent approval of palivizumab in Canada, access to this medication has increased. However, there are limited data on utilization, compliance, and health outcomes, particularly the frequency and severity of RSV infections. The primary objective of this study is to provide insight into the current management (utilization, compliance) of children at high-risk of RSV infection with palivizumab prophylaxis in the tertiary care centers and community settings through the development of a Canadian Registry Database.

Eligibility Criteria:
Inclusion Criteria:

* All children who receive at least one dose of palivizumab

Exclusion Criteria:

* The child's parent or legal guardian could not communicate in either English or French
* The child had received palivizumab as part of a clinical trial during the study period
Differences in Extracellular Vesicles From Adipose Tissue of Individuals With Obesity.

Our society is characterized by a strong increase in the prevalence of obesity, which often causes the development of cardiovascular and metabolic diseases such as type 2 diabetes. The way(s) obesity is responsible for these diseases, is still insufficiently understood. This study therefore examines the content of human fat tissue storage location- and cell type-specific extracellular vesicles (EVs) in lean and obese individuals, and the possible connection with sex, insulin sensitivity, and the blood-brain barrier.

This study focuses on unraveling the fundamental differences in communication via extracellular vesicles (EVs) derived from fat cells and immune cells in terms of fat tissue storage location and sex among individuals with and without obesity. The study hypothesizes that the differences in EV profiles, originating from corresponding in vitro differentiated hMADS and ex vivo isolated adult fat cells and immune cells, among individuals with and without obesity can be related to sex and/or fat tissue storage location. Additionally, the effect of the isolated EVs on the blood-brain barrier function is also investigated.

Eligibility Criteria:
Individuals with obesity - Inclusion Criteria:

* Caucasian adults with obesity that have a body mass index (BMI) of at least 35 kg/m\^2 and are scheduled for their first bariatric surgery.
* Final male/female ratio of this study is 1:1
* Minimal knowledge of Dutch to read and understand the informed consent.

Individuals with obesity - Exclusion Criteria:

* Smoking and/or drug abuse
* Cardiovascular diseases (including but not limited to implanted aids like a pacemaker or defibrillator)
* Lung and/or kidney diseases
* Brain and/or nerve diseases
* Malignant diseases (e.g. cancer)

Individuals without obesity (lean) - inclusion criteria

* Caucasian adults with obesity that have a body mass index (BMI) of between 18 and 24.9 kg/m\^2 and are scheduled for abdominal surgery
* Female only
* Minimal knowledge of Dutch to read and understand the informed consent.

Individuals without obesity (lean) - exclusion criteria

* Smoking and/or drug abuse
* Cardiovascular diseases (including but not limited to implanted aids like a pacemaker or defibrillator)
* Lung and/or kidney diseases
* Brain and/or nerve diseases
* Endocrine diseases like type 2 diabetes
* Malignant diseases (e.g. cancer)
Evaluation of Perineural Catheterization Practices in Postoperative Orthopedic Surgery

Continuous peripheral nerve blocks are considered as the gold standard for postoperative analgesia in orthopaedic surgery (shoulder, knee, foot). These techniques are also used in chronic pain.

The main disadvantage of these techniques is that they can drive a more or less deep motor block that slows down the rehabilitation process. This disadvantage could be prevented (or minimized) by adapting the protocol for administering local anesthetics or by changing molecules (levobupivacaine 0.625 mg/ml instead of ropivacaine 2 mg/ml). There is no literature comparing the effectiveness of the sensory block and its impact on the motor block according to the administration protocol and/or the type of local anesthetics.

The main judgement criterion of such a study could be a composite criterion crossing the quality of the sensory block and the depth of the motor blockades, the ideal being to have a perfect sensory block without any motor block.


Eligibility Criteria:
Inclusion Criteria:

* \>18 years old
* ASA score 1 to 4
* Scheduled orthopaedic surgery
* consent to participate

Exclusion Criteria:

* Pregnant, parturient, or breastfeeding woman
* Emergency situation
* Contraindications to local anaesthesia
* Patient refusal
Hypertonic Saline for Fluid Resuscitation After Cardiac Surgery

Background: Volume replacement strategies and type of fluid used in patients undergoing cardiac surgery have changed during the last years. Currently used crystalloid solutes have a variable composition and a major impact on organ function and outcome. Additionally critically ill patients are prone to fluid overload, which is despite common perception, not a benign occurrence as it is associated with prolonged ICU- and hospital length of stay and increased mortality rates. Fluid resuscitation using bolus or continuous infusion of hypertonic saline was used for more than thirty years. Only a few studies have been conducted so far, but they showed that infusion of hypertonic saline results in less volume administered, increased renal function less weight gain in critically ill patients when compared to other crystalloids.

Aim: This preliminary randomized controlled double-blind study aims to identify whether fluid resuscitation using hypertonic saline (HS) when used in addition to lactated Ringers solution results in less total fluid amount administered in patients following cardiac surgery. Additionally we want to evaluate whether the use of hypertonic saline results less need for pharmacological cardiocirculatory support, increased renal function, less postoperative volume overload shortened post-cardiac bypass immune suppression and increased postoperative outcomes.

Study intervention: At admission to the ICU patients will receive 5ml/kg body weight of 7.3% NaCl or 0.9% NaCl by infusion pump over 60 minutes. If necessary, fluid resuscitation will thereafter be performed with Ringer's lactate to normalize peripheral perfusion and to allow weaning of vasopressors.


Eligibility Criteria:
Inclusion Criteria:

* Adult patients undergoing cardiac surgery for ischemic or valvular heart disease

Exclusion Criteria:

* Patients unable to give informed consent
* Patients with age \<18 years
* Pregnancy or breastfeeding
* Left-ventricular ejection fraction (LVEF) \< 30% preoperatively
* Preexisting renal insufficiency with an eGFR \<30 ml/min/1.73m2
* Patients with postoperative circulatory support devices such as LVAD, IABP, Impella, ECMO
* Preexisting serum sodium of \>145mmol/l or \<135 mmol/L
* Preexisting serum chloremia \>107mmol/l or \< 98 mmol/L
* Systemic steroid therapy (at any dose at time of inclusion)
* Chronic liver disease (bilirubin \>3 mg.dl)
* Any signs of infection or sepsis defined as clear clinical evidence for active infection or current antibiotic therapy
BIO.MASTER.BioMonitor 2 Study

The objective of the study is to confirm safety and efficacy of the BioMonitor 2. The data is collected to support the regulatory approval of this product in countries outside the CE region.


Eligibility Criteria:
Inclusion Criteria:

* Patients without history of atrial fibrillation and with an indication for BioMonitor 2 device or paients planned for loop recorded guided AF-therapy management, with either current known and documented paroxysmal atrial fibrillation or with current known and documented persistent atrial fibrillation indicated for an ablation or was ablated within the last four weeks.
* Patient is able to understand the nature of the study and provides written informed consent.
* Patient is able and willing to complete the planned follow-up visits at the investigational site.
* Patient accepts the Home Monitoring® concept.
* Age is ≥ 18 years.

Exclusion Criteria:

* Patients implanted with ICD or pacemaker.
* Patient who is pregnant and/or breast-feeding or who intends to become pregnant during the time of the study will be excluded.
* Life expectancy of less than 6 months.
* Participation in another interventional clinical investigation. Participation in a non-interventional study is permitted.
A Safety and Tolerability Study of Pemigatinib in Japanese Subjects With Advanced Malignancies - (FIGHT-102)

The purpose of this study is to evaluate the safety and tolerability of pemigatinib in Japanese subjects with advanced malignancies.


Eligibility Criteria:
Inclusion Criteria:

* First generation Japanese; subject was born in Japan and has not lived outside of Japan for a total of \> 10 years and subject can trace maternal and paternal Japanese ancestry.
* Part 1: Any histologically confirmed advanced solid tumor malignancy. Subjects enrolled at a lower dose level expansion cohort are required to have documented FGF/FGFR alterations and baseline and on-treatment tumor biopsy for testing of biomarkers.
* Part 2: Any histologically confirmed advanced solid tumor malignancy with a FGF/FGFR alteration
* Advanced or metastatic and recurrent cancer where an appropriate treatment option is not available.
* Life expectancy \> 12 weeks.
* Eastern Cooperative Oncology Group (ECOG) performance status: Part 1: 0 or 1; Part 2: 0, 1, or 2.
* Genomic testing is mandatory for all enrolled subjects. Archival tumor specimen of at least 7 slides or willingness to undergo a pretreatment tumor biopsy to provide a tumor block or at least 7 unstained slides. Archival tumor biopsies are acceptable at baseline and should be no more than 2 years old (preferably less than 1 year old and collected since the completion of the last treatment); subjects with samples older than 2 years old and/or with sequencing report from the central laboratory require approval from the sponsor medical monitor for exemption from tumor biopsy or tumor sample requirement.

Exclusion Criteria:

* Treatment with other investigational study drug for any indication for any reason, or receipt of anticancer medications within 21 days or 5 half-lives (whichever is longer) before first dose of study drug (6 weeks for mitomycin-C or nitrosoureas, 7 days for tyrosine kinase inhibitors).
* Prior receipt of a selective FGFR inhibitor.
* Laboratory and medical history parameters outside Protocol-defined range.
* History and/or current evidence of ectopic mineralization/calcification including but not limited to soft tissue, kidneys, intestine, myocardia, or lung, excepting calcified lymph nodes and asymptomatic arterial or cartilage/tendon calcification.
* Current evidence of corneal disorder/keratopathy including but not limited to bullous/band keratopathy, corneal abrasion, inflammation/ulceration, keratoconjunctivitis, confirmed by ophthalmologic examination.
The MEDIPSA Clinical Trial

The main purpose of this study is to validate the positive effect of "Omnibiotic Stress Repair" on patients with active psoriatic Arthritis.

This is a single center, double blind (patients and investigators), Placebo controlled randomized trial.

Consecutive patients with Psoriatic Arthritis (PsA) in moderate disease activity (Psoriatic Arthritis Disease Activity Score: PASDAS \>3.2 - \<5.4) on a stable treatment (no immunomodulatory treatment change in the last 3 months) with biological (bDMARDs) and/or synthetic disease modifying anti-rheumatic drugs (sDMARDs) and/or glucocorticoids will be included in the study. Clinical assessment will be scheduled at baseline, 12 weeks and 24 weeks.

Eligibility Criteria:
Inclusion Criteria:

1. Male or female patient ≥18 years and \<90 years of age
2. PsA according to CASPAR criteria
3. MoDA defined by a PASDAS \>3.2 - \<5.4
4. Stable immunomodulatory therapy for the last 12 weeks before baseline (no change in bDMARD/sDMARD/glucocorticoid treatment)
5. Written informed consent

Exclusion Criteria:

1. History of bariatric surgery
2. Prior use of probiotics in the last 24 weeks
3. Use of probiotics, other than the study product, during the study period.
4. Antibiotic therapy within the last 4 weeks before inclusion
5. Inflammatory bowel disease
6. Recent (less than 12 weeks) acute myocardial infarction or decompensated heart failure
7. Recent (less than 12 weeks) stroke
8. Known malignancy
9. Inability of the patient to follow the treatment protocol
10. Pregnancy
Daily Activities Are Sufficient to Induce Dynamic Pulmonary Hyperinflation and Dyspnea in Chronic Obstructive Pulmonary Disease Patients

Introduction: Chronic obstructive pulmonary disease is a condition characterized by airflow limitation usually progressive and associated with inflammatory response of lung noxious particles. During a physical activity chronic obstructive pulmonary disease patients may develop dynamic pulmonary hyperinflation, increased dyspnea perception and decreased activity performance. The investigators hypothesize that some specific activities of daily living induce dynamic pulmonary hyperinflation in COPD patients. Objective: To measure dynamic lung hyperinflation and its influence in dyspnea perception in moderate and severe chronic obstructive pulmonary disease patients after activities of daily living. Methods: The investigators measured inspiratory capacity, dyspnea sensation, peripheral oxygen saturation, heart rate and respiratory rate in 19 chronic obstructive pulmonary disease (COPD) patients. These measurements were taken at rest and after daily living activities (such as going up and down a set of stairs, going up and down a ramp and sweeping and mopping a room).


Eligibility Criteria:
Inclusion Criteria:

* COPD patients diagnosed with moderate to very severe airway obstruction according to GOLD classification (9)
* clinical stability with no clinical exacerbation during the previous 30 days prior to the beginning of the study and to sign an informed consent form

Exclusion Criteria:

* Inability to perform the slow vital capacity maneuver
* excessive perceived dyspnea during the test
* arterial oxyhemoglobin saturation (SpO2) lower than 80% during activities and/or need of oxygen supplementation
A Clinical Study of Remimazolam Tosilate in Patients Undergoing Bronchoscopy

A multicenter, randomized, single-blind, active controlled, parallel group study comparing remimazolam tosilate to propofol in patients undergoing bronchoscopy.


Eligibility Criteria:
Inclusion Criteria:

1. 18\~80 years, female or male
2. Patients scheduled for an bronchoscopy procedure
3. 18 kg/m2\<BMI\<30kg/m2
4. Patients understand clearly and participate in the study voluntarily, and sign the informed consent

Exclusion Criteria:

1. Patients scheduled for emergency surgery
2. Patients with a history of drug abuse and / or alcohol abuse 2 years prior to the screening period
3. One or more of the laboratory findings fall out of the limitations for this study(platelet,hemoglobin,aspartate aminotransferase,etc.);
4. Pregnant women or those in lactation period
5. Allergic to drugs used in the study
6. Patients have participated in other clinical trial within the 3 months prior to randomization
7. Any patient judged by the Principal Investigator (PI) or Sub-Investigator to be inappropriate for the subject for any other reason
Influence Of Incomplete Revascularization on Long-Term Outcomes After Primary Percutaneous Coronary Intervention (PPCI)

evaluate the influence of incomplete revascularization during the index hospitalization on in-hospital and long-term outcomes in STEMI patients undergoing PPCI in Assiut University heart hospital.

* Study groups: Patients will be divided into 2 groups

  1. Group I: Complete revascularization was achieved by PPCI.
  2. Group II: Complete revascularization was not achieved by PPCI.
* In hospital outcomes: All the patients will be reviewed for during hospital admission to record major acute cardiac events (MACE). Only the most serious event of major adverse cardiac events will be used to calculate the cumulative major adverse cardiac events per patient according to the following sequence: (death \> heart failure \> recurrent non-fatal MI \> serious secondary arrhythmia necessitating DC shock\> recurrent or refractory angina. MACE will be reported according to the standard definitions.(Tsai IT, et al.,2017)
* Long-term follow-up: The patients will be followed by telephone interviews for all-cause mortality, re-hospitalization by ACS, re-hospitalization by heart failure, planned and unplanned PCI or CABG. Long-term MACE will include: all-cause mortality, re-hospitalization by ACS, re-hospitalization by heart failure, unplanned revascularization. Patients who undergo planned revascularization later on after discharge will be followed till the date of revascularization for actual events and will be censored in Kaplan Meier Survival analysis. These patients will be included in a third group of staged late complete revascularization to be followed for the long-term MACE events starting from the planned revascularization procedure.

Eligibility Criteria:
Inclusion Criteria:

All Patients aged \>18 years with STEMI admitted to Assiut University Heart hospital and underwent successful PPCI between January 2016 to December 2019 were recruited. Selection of patients for primary PCI was as per guideline recommendations.

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Exclusion Criteria:

* Patients with incomplete data.
* Patients with previous coronary artery bypass grafting (CABG).
* Patients presenting with cardiogenic shock, cardiac arrest or pulmonary edema.
* Mechanical complications of MI; namely VSD, wall rupture, mitral regurgitation secondary to papillary muscle or chordal rupture.
* Patients with unsuccessful PPCI with a final TIMI flow ≤ I in infarct related artery.
* Patients with a significant co-morbidity reducing life expectancy to \<1 year as patients with advanced liver diseases, cerebrovascular diseases, malignancy and chronic lung diseases that could affect patient prognosis
Diabetes Prevention in Prediabetic Patients

This study will evaluate the feasibility and efficacy of two interventions of lifestyle ( intensive and less intensive) to prevent diabetes in patients from Ethiopian origin, aged 25 to 55 years old with prediabetes living in Israel and insured by Clalit Health Services in the Central district, using resources existing in this Health Care system (HMO).


Eligibility Criteria:
Inclusion Criteria:

* prediabetes
* age 25-55
* ethiopian origin

Exclusion Criteria:

* diabetes
* age under 25 or above 55
* non ethiopian origin
Probiotics and Hospital Outcome in the Elderly

Probiotics have been shown to reduce the rate of diarrhea and constipation. The purpose of this study was to investigate if probiotics could improve outcome of hospitalized orthopedic elderly patients.

The patients were divided into two groups. One received probiotics for 45 days and the second received placebo. The patients had a clinical and epidemiological as well as nutritional assessment. They were followed-up as for their bowel movements, abdominal pain and nosocomial infections and for the incidence of helicobacter pylori and clostridiume difficille diarrhea.

Eligibility Criteria:
Inclusion Criteria:

* Patients who were hospitalized in the Department of Geriatric Orthopedic Rehabilitation a week before their enrollment in the study and signed an informed consent.

Exclusion Criteria:

* Known or suspected allergy to any probiotics
* Neutropenia
* Inability to sign an informed consent