cyrilzakka/clinical-trials huggingface dataset:
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants

The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23 chromosome and to build a DNA and tissue biobank with samples donated by affected individuals. The study has multiple arms focused on different aspects of WS. Participants with genetic diagnosis of WS or other variants of 7q11.23 and their family members are eligible to participate. Study participants may participate in one or multiple arms of the study:

1. Natural History Genotype-Phenotype Study to test the hypothesis that health, behavior, and developmental variability observed in WS is determined by genetic factors and to characterize those genetic changes. Participants of all ages are eligible to participate. Either a blood or saliva sample is required for participation.
2. Biobank: the research team is building a biobank enabling the development of new laboratory tools and models to study WS and test new treatment approaches. A blood sample is required for participation. Participants of all ages are eligible to participate.
3. Development arm of the study aims to delineate the development of language, cognition, personality, literacy and mathematics skills, and adaptive behavior from very early childhood through adulthood in individuals who have WS or Dup7. The purpose of this study also includes determining the predictors of specific aspects of development (e.g., word reading ability, language ability, spatial ability) for individuals with WS or Dup7. Affected individuals of all ages are eligible to participate.
4. Transition to Adulthood study aims to understand how young adults with WS make a successful transition out of high school into adulthood and to help them in this journey by providing a comprehensive psychosocial transition coupled with a medical transition plan. Individuals ages 14-25 years old are eligible to participate. Study requires three in person visits.


Eligibility Criteria:
Inclusion Criteria:

* clinical and/or molecular diagnosis of Williams syndrome (WS)
* biological parents or siblings of individuals diagnosed with WS
* molecular diagnosis of 7q11.23 duplication syndrome (Dup7)
* molecular diagnosis of another abnormality in the 7q11.23 region

Exclusion Criteria:

- No diagnosis of abnormalities in the 7q11.23 region, while not being a biological relative of affected individuals
Transcranial Direct Current Stimulation (TDCS) for Facilitating Swallowing Improvement After an Acute Unilateral Hemispheric Stroke

The purpose of the research study is to investigate the effect of a brain stimulation technique called Transcranial Direct Current Stimulation (TDCS) in improving swallowing functions in subjects who develop dysphagia after a unilateral hemispheric infarction.


Eligibility Criteria:
Inclusion Criteria:

* Acute ischemic stroke
* Between 24-168 hours after onset
* Moderate to severe dysphagia based on swallowing assessment

Exclusion Criteria:

* Preexisting swallowing impairment
* Intracerebral hemorrhage
* Pacemaker of other electrically sensitive device
Treatment of Apomorphine-induced Skin Reactions: a Pilot Study

Skin reactions as a result of continuous subcutaneous apomorphine infusion occur frequently and interfere with the absorption of apomorphine. The histopathology of apomorphine-induced skin reactions is poorly understood. Therefore treatment options are limited and suggestive.

Objective: to investigate the efficacy of four treatments including massage, dilution of apomorphine, treatment with topical hydrocortisone and pre-treatment with subcutaneous administered hydrocortisone, in Parkinson's disease patients with apomorphine-induced skin reactions.


Eligibility Criteria:
Inclusion Criteria:

* Female and male subjects aged ≥30;
* Diagnosis of idiopathic Parkinson's disease of \>3 years' duration, defined by the United Kingdom (UK) Brain Bank criteria, with the exception of \>1 affected relative being allowed, without any other known or suspected cause of Parkinsonism (Gibb \& Lees, 1988);
* Treatment with continuous subcutaneous apomorphine infusion;
* Having apomorphine-induced skin reactions (i.e. erythema, swelling and/or nodule formation);
* Male and female patients must be compliant with a highly effective contraceptive method (oral hormonal contraception alone is not considered highly effective and must be used in combination with a barrier method) during the study, if sexually active;
* Subjects considered reliable and capable of adhering to the protocol, visit schedule, and medication intake according to the judgement of the investigator.

Exclusion Criteria:

* High suspicion of other parkinsonian syndromes;
* History of respiratory depression;
* Hypersensitivity to hydrocortisone or any excipients of the medicinal product;
* Concomitant therapy with histamine antagonist;
* Known with Cushing's disease or hypercortisolism
* Any medical condition that is likely to interfere with an adequate participation in the study including e.g. current diagnosis of unstable epilepsy; clinically relevant cardiac dysfunction and/or myocardial infarction or stroke within the last 12 months;
* Pregnant and breastfeeding women;
* Current infectious disease with fever at the time of investigation.
Study of MRA for Polyarticular Juvenile Idiopathic Arthritis (pJIA)

This is an open-label, Phase III study to evaluate the efficacy, safety and PK of MRA in patients with pJIA.


Eligibility Criteria:
Inclusion criteria

* Patients who are diagnosed with rheumatoid factor (RF) positive or negative polyarthritic or oligoarthritic JIA according to the ILAR standards (1997)
* Patients aged at least 2 years old and less than 20.
* Patients aged less than 16 years old at time of onset

Exclusion criteria

* Patients with Class IV Steinbrocker functional disorder at evaluation within 2 weeks before initiation of treatment with the investigational product
* Patients who have been treated for the underlying disease with a biological agent, such as infliximab or etanercept, within 12 weeks before initiation of treatment with the investigational product
Circulating Cancer Cells/Macrophage HYbrid Cells in Patients With Breast Cancer.

Pilot, prospective, monocentric study aimed at evaluating the rate of patients with circulating cancer cell/macrophage hybrid cells in the peripheral blood.

The study will be conducted on a population of patients with breast cancer (regardless of stage of the disease and the immunohistochemical subtype).

For each included patient, blood samples will be taken and tumor specimens will be collected for the study.

At the end of the blood collection, the patient will have completed his participation in the study.


Eligibility Criteria:
Inclusion Criteria:

1. Patient with breast cancer of any stage (stage I, II, III or IV) and any immunohistochemical subtype (triple-negative, HR+/HER2-negative or HER2-positive).
2. Patient not yet initiated on specific treatment for the stage of breast cancer at inclusion.
3. Available tumor sample (archived tumor block) : initial tumor or metastasis depending on the stage of the disease and availability.
4. Age ≥ 18 years old.
5. Patient affiliated to a Social Health Insurance in France.
6. Patient having signed informed consent prior to inclusion in the study and prior to any specific study procedure.

Exclusion Criteria:

1. Associated pathology(ies) that may prevent the proper conduct of the procedure under consideration.
2. Pregnant or breastfeeding woman.
3. Any psychological, family, geographical or sociological condition that prevents compliance with the medical follow-up and/or procedures of the study protocol.
4. Patient who has forfeited his/her freedom by administrative or legal award or who is under legal protection (curatorship and guardianship protection of justice).
5. Patient who has presented another solid tumor (except breast or cervix carcinoma in situ) within 5 years.
Metformin Glycinate in Patients With MS or DM2 , Hospitalized With COVID-19 and SARS Secondary to SARS-CoV-2

The purpose of this study is to evaluate the efficacy and safety of metformin glycinate at dose of 620 mg twice per day plus standard treatment comparing to standard treatment alone (we will use placebo) of patients who have metabolic syndrome or type 2 diabetes, which have severe acute respiratory syndrome secondary to SARS-CoV-2.

After being informed about the study and potential risks, all patients will give written informed consent and undergo a 1 day screening period to determine the eligibility for study entry. At day 0, patients who meet the eligibility requirements will be randomized in a double blind (participant and investigator) in a 1:1 ratio to metformin glycinate (620 mg, taken orally twice daily) plus standard treatment or placebo (taken orally,twice daily) plus standard treatment, both will be for 14 days.

Eligibility Criteria:
Inclusion Criteria:

1. ≥ 18 years old
2. Ability to understand and the willingness to sign a written informed consent document before any study procedure
3. Metabolic syndrome or type 2 diabetes
4. Coronavirus infection, severe acute respiratory syndrome SARS-CoV- 2 confirmed by the Polymerase Chain Reaction test (PCR) ≤ 4 days before of the randomization.
5. Hospitalized patient.
6. Radiographic evidence of pulmonary infiltrates

Exclusion Criteria:

1. Participation in any other clinical trial of an experimental treatment for COVID-19
2. Evidence of multi-organ failure
3. Require mechanical ventilation before randomization
4. Pregnant patients
ESTIMATION OF THE EFFECT OF MULTIPLE DOSE PF-06651600 ON THE PHARMACOKINETICS OF SINGLE DOSE MIDAZOLAM AND EFAVIRENZ

The current study will estimate any inhibitive or inductive effect of PF-06651600 on the pharmacokinetics of midazolam and efavirenz.


Eligibility Criteria:
Inclusion Criteria:

Male and female participants who are healthy Body mass index (BMI) of 17.5 to 30.5 kg/m2; and a total body weight \>50 kg

Exclusion Criteria:

* Evidence or history of clinically significant hematological, renal, endocrine, pulmonary, gastrointestinal, cardiovascular, hepatic, psychiatric, neurological, dermatological, or allergic disease
* Any condition possibly affecting drug absorption
* Known immunodeficiency.
* Infection with hepatitis B or hepatitis C viruses
* acute or chronic infections or infection history judged to be clinically significant by the investigator
* History of any lymphoproliferative disorder
* known present or a history of malignancy other than a successfully treated or excised non metastatic basal cell or squamous cell cancer of the skin or cervical carcinoma in situ.
* live (attenuated) vaccines within 6 weeks prior to the first dose of investigational product.
CACAF2 Study: Catheter Ablation for Cure of Atrial Fibrillation

The objective of this prospective multicenter randomized study is to establish the effectiveness of treatment of persistent atrial fibrillation by encircling the pulmonary veins with radiofrequency (RF) ablation and creating additional lines of block with the aid of the NAVISTAR® THERMOCOOL® catheter in conjunction with the CARTO™ EP Navigation System. Effectiveness will be determined by comparing the chronic success of ablation therapy versus antiarrhythmic drug therapy, defined as the absence of persistent tachyarrhythmias during the first 24 months after a run-in phase of 2 months.


Eligibility Criteria:
Inclusion Criteria:

* 18-70 years
* Written informed consent
* One documented relapse of atrial fibrillation (AF) during antiarrhythmic drug therapy after an electrical cardioversion

Exclusion Criteria:

* Permanent atrial fibrillation
* Patients who had tried \>1 antiarrhythmic drug (Class I or Class III).
* AF was the sole rhythm for \>6 months before the enrollment.
* Previous ablation for AF.
* AF is deemed secondary to a transient or correctable abnormality including electrolyte imbalance, trauma, recent surgery, infection, toxic ingestion, and endocrinopathy.
* Patients who have fibrillation episodes triggered by another uniform arrhythmia (eg, atrial flutter or atrial tachycardia).
* Patients with intra-atrial thrombus, tumor, or another abnormality that precludes catheter introduction.
* Patients with Wolf-Parkinson-White syndrome.
* Patients awaiting cardiac transplantation.
* Congestive heart failure (CHF) New York Heart Association (NYHA) Class II-III-IV or ejection fraction (EF) \<40%.
* Patients with unstable angina or acute myocardial infarction within 3 months.
* Patients with cardiac revascularization or other cardiac surgery within 6 months.
* Patients with heart disease in which corrective surgery is anticipated.
* Patients in whom appropriate vascular access is precluded.
* Pregnant women.
* A separate requirement for antiarrhythmic drug treatment, which will require an antiarrhythmic drug not previously tried for AF suppression.
* Prior atrial surgery.
* Contraindication to treatment with warfarin or other bleeding diathesis.
* Renal failure requiring dialysis.
* Hepatic failure.
* Participant in investigational clinical or device trial.
* Unwilling or unable to give informed consent.
* Inaccessible for follow-up.
* Psychological problem that might limit compliance.
* Active abuse of alcohol or other drugs which may be causative of AF.
* An implanted device (pacemaker or cardioverter-defibrillator).
* Left atrial diameter (anteroposterior) \>50 mm.
Adipose-derived Mesenchymal Stem Cells in Acute Respiratory Distress Syndrome

Currently, there is no proven effective pharmacologic treatment available for patients with the acute respiratory distress syndrome (ARDS). Mesenchymal stem cells have been shown to be effective in treating several inflammatory diseases. The main purpose of this study is to assess the safety of allogeneic adipose-derived mesenchymal stem cells in patients with ARDS.


Eligibility Criteria:
Inclusion Criteria:

1. ARDS diagnosed using Berlin definition
2. Eligible patients were at least 18 years of age had acute onset of ARDS.
3. Bilateral opacities in chest radiography
4. No cardiac failure
5. PaO2/FiO2 ratio \< 200

Exclusion Criteria:

1. 72 hours after all inclusion criteria met
2. Pre-existing severe diseases of any major organs
3. Pregnancy
4. Pulmonary hypertension
5. Malignant diseases
6. HIV infections.
Treatment for Advanced B-Cell Lymphoma

To safely reduce the burden of therapy in children, adolescents and young adults with mature B-NHL by reducing the number of intrathecal (IT) injections by the introduction of IT Liposomal Cytarabine (L-ARA-C, \[Depocyt®\]) and reducing the dose of anthracycline (doxorubicin) in good risk patients with the addition of rituximab to the FAB chemotherapy backbone (Immunochemotherapy).


Eligibility Criteria:
Inclusion Criteria:

* Newly diagnosed mature B-lineage (CD20 positive) Leukemia/Lymphoma
* 1. Diffuse Large Cell Lymphoma (NOT primary mediastinal B-cell lymphoma) -2. Burkitt's Lymphoma
* 3. High Grade B-cell Lymphoma---Burkitt's like.

B-Cell Anaplastic Large cell Ki 1 positive lymphomas, Primary Mediastinal B-Cell Lymphoma (PMBL), and B-Lymphoblastic lymphomas are ineligible.

No previous chemotherapy. Patients who have received emergency irradiation and/or steroid therapy will be eligible ONLY if started on protocol therapy not more than 72 hours from the start of radiotherapy or steroids. Bone marrow and cerebrospinal fluid MUST be obtained before steroids are given for patient to be eligible for the study.

Exclusion Criteria:

* Patients with newly diagnosed Group A (low risk) lymphoma. Patients with Group B (intermediate risk) if classified as Murphy Stage III/IV and diagnostic LDH \> 2 XULN and patients with primary mediastinal B-cell lymphoma (PMBL).
* Patients who have received any steroids in the week prior to diagnosis except as stated in Section 4.1.4 of the protocol.
* No congenital or acquired immune deficiency. These patients are excluded due to the expected intense immunosuppression, increased risk of opportunistic infections, and higher expected septic death rate in this subgroup of patients with this proposed therapy.
* No prior solid organ transplantation.
* Patients with previous malignancies that have been treated with systemic chemotherapy with alkylator or anthracycline therapy. The latter group of patients are excluded due to an expected increase in late effects (eg. late cardiac toxicity, secondary malignancies, sterility, etc.).
* Patients with known G6PD deficiency are NOT ELIGIBLE for Rasburicase therapy. Patients with G6PD deficiency should be treated with alkalinization, IV hydration and po and/or IV allopurinol during the reduction phase (COP).

4.2.6 Patients with serious (sepsis, pneumonia, etc..) proven or suspected infections at diagnosis will be excluded.

4.2.7 Pregnancy or Breast-Feeding: No information is available regarding human fetal or teratogenic toxicities. Pregnancy tests must be obtained in girls who are post-menarchal. Males or females of reproductive potential may not participate unless they have agreed to use an effective contraceptive method.
Rift Valley Fever in Kenya

The purpose of this study is to find out how, why, and when Rift Valley Fever (RVF) spreads. Participants will be 250 adults and children, aged 1 year and older, from the Ijara District, Kenya. They will be given a questionnaire, undergo a medical examination that includes an eye exam, and have a 1-teaspoon sample of blood taken from a vein. Participation will take about 3 hours.

The objective of this research is to better define the extent and timing of Rift Valley Fever (RVF) virus transmission and its related chronic disease/infection attack rate, during an interepidemic period in a high-risk region that has seen repeated RVF outbreaks. The results will be used to develop and refine predictive algorithms for RVF Virus transmission, based on epidemiological, environmental, and remote sensing data, with the ultimate goal of providing improved early detection of significant RVF outbreaks. It is expected that the analysis of test-performance characteristics will determine the best use of serologic assays in Kenya's next RVF epizootic/epidemic. The primary outcome measure will be the current RVF-specific seropositivity profile for a cross-sectional survey population in Ijara District in northeast Kenya. The secondary outcome measures to be studied will be: 1) an assessment of the behavioral factors associated with risk of seropositivity (previous infection) in the study population; and 2) the association of selected long-term ophthalmological and clinical outcomes with seropositivity. The study design for this protocol involves questionnaire administration to consenting participants of Ijara District, followed by performance of medical exams, ophthalmologic exams, and phlebotomy on all participants. ELISA testing for RVF will then be performed on the blood samples obtained, and all ELISA screen-positive samples will have confirmatory testing by plaque-reduction neutralizing antibody testing.

Eligibility Criteria:
Inclusion Criteria:

Those adults and children residing in selected survey households in the area of Ijara Town and its 5 km environs who are 1 year of age and older will be eligible, provided:

1. Informed consent is obtained and signed, and assent form is obtained and signed from children age 7 and older,
2. Subject has understanding of study procedures, and
3. Subject is able to comply with study procedures for the entire length of the study.

Exclusion Criteria:

1. Age less than 1 year.
2. Subjects who immigrated to the study area less than 2 years previously.
3. Acutely ill Ijara residents.
4. Adults and children who cannot provide informed consent or who cannot participate fully in the study procedures will also be excluded.
Association Between Metabolic Syndrome and Serum Nerve Growth Factor Levels in Women With Overactive Bladder

Nerve growth factor (NGF-R) receptors are between the detrusor muscle fibers and can cause afferent signals. Metabolic syndrome and obesity have been advocated to be risk factors for the development of overactive bladder.

Overactive bladder is a clinical syndrome characterized urgency, frequency and nocturia. Infection or other obvious causes must be excluded. The overactive bladder is loss of inhibition of the detrusor muscle during the filling or emptying of the bladder.

Specific receptors and neurotransmitters have role in development of overactive bladder. These includes adrenergic, cholinergic, non-adrenergic, non-cholinergic receptors and interstitial cells.

Nerve growth factor (NGF-R) receptors are between the detrusor muscle fibers and can cause afferent signals. Metabolic syndrome and obesity have been advocated to be risk factors for the development of overactive bladder. The investigators believe that our findings will shed light on treatment.

Eligibility Criteria:
Inclusion Criteria:

* women with urgency, nocturia and frequency
* Abdominal obesity, defined as a waist circumference in men ≥88 cm
* Serum triglycerides ≥150 mg/dL (1.7 mmol/L) or drug treatment for elevated triglycerides
* Serum HDL cholesterol \<40 mg/dL (1 mmol/L) in men and \<50 mg/dL (1.3 mmol/L) in women or drug treatment for low HDL-C
* Blood pressure ≥130/85 mmHg or drug treatment for elevated blood pressure
* Fasting plasma glucose (FPG) ≥100 mg/dL (5.6 mmol/L) or drug treatment for elevated blood glucose

Exclusion Criteria:

* Chronic obstructive pulmonary disease allergy
* Psychiatric disorders
* Urinary tract infection
* Neurological diseases
* Metabolic diseases
* Pure stress or mixed urinary incontinence
* History of pelvic surgery
* Diabetes mellitus
RESting-state Functional MRI for Prediction of Post-surgical Prognosis In Pediatric Drug-Resistant Epilepsy

Resting-state functional MRI (r-fMRI) has emerged in recent years to analyze resting networks. It allows, without active participation of the patients, to identify and analyze the different functional brain networks. The analysis of r-fMRI can be done thanks to the graph theory, which is based on the based on the calculation of quantifiable parameters applied to the functional network studied, making it possible to assess its effectiveness.

To the knowledge of the investigators, no study has used graph theory applied to r-fMRI data in order to obtain parameters useful for the useful parameters for the individual prognosis of children who have to be operation for drug-resistant lesional epilepsy.


Eligibility Criteria:
Inclusion Criteria:

* Patient aged between 6 and 18 years
* Receiving an MRI for lesional drug-resistant epilepsy
* Affiliated or beneficiary of a social security plan
* Whose parents or guardians have received information about the study and have given their express consent to participate in the study

Exclusion Criteria:

* Contraindication to absolute or relative MRI (in particular, pregnant or breastfeeding women)
* History of intracranial surgery
* MRI performed under general anesthesia