cyrilzakka/clinical-trials huggingface dataset:
Social Cognition and Turner Syndrome

Monocentric multidisciplinary study (psychologists, endocrinologists, psychiatrists, and molecular biologists) to characterize social cognition in adolescents with Turner syndrome (TS).

Inclusion criteria:

* Turner syndrome with homogeneous 45,X karyotype.
* Age between 8 and 18 years.
* Somatic state compatible with the evaluation.
* Functional language and IQ ≥ 80 for the transfer tests
* Informed consent signed by the holders of parental authority, the patient and the mother for her own participation (DNA collection).
* Affiliation to Social Security (beneficiary or assignee).

The primary endpoint will be the overall score to the AQ (Autism Quotient) questionnaire and to the SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population. For patients with scores above the threshold for SRS or QA validation of a possible diagnosis of autism spectrum disorders will be performed with commonly used diagnostic tools (ADIR (Lord et al, 1994), ADOS-G (Lord et al, 1999) and diagnostic criteria of DSM IV-TR).

Secondary criteria will include the results of standardized tests to assess autistic features (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition, Perception, eXecutive functions).

A DNA sample will be collected from the patient and her mother. The observation period is 2 days for the patient and about 1 hour for the mother. The total duration of the study is 3 years.

Patients will be recruited to the study by their pediatric endocrinologist during routine monitoring visits. They will then be contacted by phone or by mail for an appointment with their mother for more oral and written information consisting of an information notice and informed consent form. The recruitment of Turner syndrome patients will be based on the Reference Centre for Rare Endocrine Growth Disorders (AP-HP, Robert Debré, Armand Trousseau and Necker hospitals).

The parental origin of the remaining X chromosome will be analyzed using microsatellite analysis and comparison of the profile of the patient and her mother.

Statistical analysis will be conducted under the supervision of Professor C. ALBERTI using commonly accepted standards. All tests will be bilateral. Given the exploratory nature of the study, a significance threshold of 10% will be used. Statistical analyzes will be performed using SAS software V 9.2.

Eligibility Criteria:
Inclusion criteria:

* Turner syndrome with homogeneous 45,X karyotype.
* Age between 8 and 18 years.
* Somatic state compatible with the evaluation.
* Functional language and IQ ≥ 80 for the transfer tests
* Informed consent signed by the holders of parental authority, the patient and the mother for her own participation (DNA collection).
* Affiliation to Social Security (beneficiary or assignee).

Exclusion Criteria:

* Additional condition associated with an autism spectrum disorder
* Turner syndrome not related to an homogeneous 45,X karyotype
Evaluation of the Possibility to Delegate Glaucoma Surveillance to Orthoptists in Hospital

Glaucoma is a progressive optical neuropathy, generally associated with ocular hypertension. The treatment aims to stabilize the visual field deficiencies by lowering the intraocular pressure. Due to the fluctuation of the visual field test and re-test measures, the European recommendations are to obtain 6 visual field tests in 2 years (or one every 4 months) in order to know if the pathology is progressing despite the current treatment (or if the treatment is necessary, in cases of intraocular hypertensions). The lack of ophthalmologists renders the monitoring of a beginning glaucoma, rarely compatible with the present recommendations. It is therefore crucial to evaluate new therapeutic alternatives, when faced to a decreasing medical demography and an increase the patient's needs.

This study should allow to validate the possibility to delegate monitoring tasks to orthoptists during glaucoma surveillance. To organize the delegation of this surveillance to orthoptists would permit a better distribution of the ophthalmologist's activities.


Eligibility Criteria:
Inclusion Criteria:

* Age from 18 years old or more
* Open-angle glaucoma or ocular hypertension

Exclusion Criteria:

* Other active ocular pathology
* Monophthalmic patients
* Patients requiring a Goldmann visual field exam
* Opposition of the patient to participate to the trial
* Pregnant women or breastfeeding
* Patient under juridical protection
* Lack of affiliation to social security or universal health coverage
Relationship Between the VEGF Gene Polymorphism and Cardiometabolic Risk Factors

The aim of the study is to determine the relationship between VEGF gene expression, VEGF gene polymorphism and serum leptin concentration in the Polish population in people with excessive body weight. In addition, the aim of the study is to look for relationships between the VEGF gene polymorphism and anthropometric and biochemical factors of cardiovascular risk and endothelial dysfunction such as body weight, waist circumference, serum total cholesterol, LDL, HDL, triglycerides, glucose and the occurrence of cardiovascular diseases in the family of a patient with excessive body weight in the Polish population.

400 people (250 - study group; 150 control group) were subjected to subjective and objective action. Information on the occurrence of diseases and cardiovascular risk in the participant and his family was collected from research studies. Anthropometric parameters were measured (body weight, height, BMI, waist circumference, neck circumference) as well as blood pressure and pulse measurement. In addition, fasting venous blood was collected and secured. In venous blood currently marked with the following concentration: glucose, required cholesterol, LDL cholesterol, HDL cholesterol and triglycerides. In addition, a method of salting out and protecting DNA was developed from blood.

Furthermore the polymorphisms of VEGF genes (in positions: -2578 and -634) using the HMR (High Resolution Melt) method was determined.

Also VEGF and leptin by ELISA was determined. After obtaining the results of comparative analysis of the correlation between the occurrence of VEGF gene polymorphisms, serum levels of leptin and VEGF, and anthropometric and biochemical parameters of cardiovascular risk.

Eligibility Criteria:
Inclusion Criteria:

* informed consent in writing
* stable body mass (+/- 1 kg)
* excessive body mass (BMI ≥ 25 kg/m2- study group)
* proper body mass (BMI \< 25 kg/m2- control group)

Exclusion Criteria:

* age \<18 years
* secondary obesity
* pregnancy, lactation
* other conditions that in the opinion of researchers may pose any risk to the patient during the study.
China Micra Transcatheter Pacing Study

The China Micra Transcatheter Pacing Study is a prospective, multi-center, single arm human clinical trial utilizing Objective Performance Criterion (OPC) to confirm the safety and efficacy profile of the Micra system for regulatory approval in China.

All study sites will be in China. Subjects successfully implanted with the Micra system in all sites will be followed at implant/pre-discharge, 1-month, 3-months, and 6-months, and at 6-month intervals thereafter (if applicable) through study closure. The overall follow-up period of the study will end when the last enrolled patient has 6 months of follow-up.

Eligibility Criteria:
Inclusion Criteria:

1. Subjects who have a Class I or II indication for implantation of a single chamber ventricular pacemaker according to ACC/AHA/HRS 2008 guidelines and China guideline.
2. Subjects who are willing to participate in study through consent and willing to undergo study specific required procedures with expectancy of geographically stable for follow up duration.
3. Subjects who are at least 18 years of age.

Exclusion Criteria:

1. Subject has an existing or prior pacemaker, ICD or CRT device implant.
2. Subject has unstable angina pectoris or has had an acute myocardial infarction (AMI) in the 30 days prior to eligibility assessment.
3. Subjects with current implantation of neurostimulator or any other chronically implanted device which uses current in the body. Note that a temporary pacing wire is allowed.
4. Subjects with a mechanical tricuspid valve, implanted vena cava filter, or left ventricular assist device (LVAD).
5. Subjects who are morbidly obese and physician believes telemetry communication of ≤5 inches (12.5 cm) could not be obtained with programmer head.
6. Subjects whose femoral venous anatomy is unable to accommodate a 23 French introducer sheath or implant on the right side of the heart (for example, due to obstructions or severe tortuosity) in the opinion of the implanter.
7. Subjects who are considered as unable to tolerate an urgent sternotomy.
8. Subjects with a known intolerance to Nickel-Titanium (Nitinol) Alloy.
9. Subjects for whom a single dose of 1.0mg dexamethasone acetate may be contraindicated.
10. Subjects with a life expectancy of less than 12-months.
11. Subjects who are currently enrolled or planning to participate in a potentially confounding drug or device trial during the course of this study. Co-enrollment in concurrent trials is only allowed when document pre-approval is obtained from the Medtronic study manager.
12. Pregnant women or breastfeeding women, or women of child bearing potential and who are not on a reliable form of birth regulation method or abstinence.
13. Subjects with exclusion criteria required by local law (age or other).
14. Subjects with medical condition which precludes patient from participation in the opinion of the Investigator.
Assessment of a Procedure for Managing Oral Anticoagulants (NACO) in the Management of Fractures

The purpose of this study is to demonstrate that by allowing patients with an anticoagulant level less than 100 ng/ml to have their fracture managed surgically, will reduce the delay in surgery and therefore the complications associated. It will also demonstrate that there are no more complications with this new management than from remaining with a bleeding fracture.

Fracture of the upper extremity of the femur are constantly on the increase and represent a public health issue in a population with increasing life expectancy. In the majority of cases, this fracture requires rapid surgical treatment, ideally within 48 hours, before complications, associated with the supine position, appear. A prolonged surgical delay is responsible for multiple complications and increase mortality in a potentially comorbid and fragile population.

Oral anticoagulants (NACOs) are now widely used in general population for cardiovascular diseases, such as non-valvular atrial fibrillation or thrombo-embolic events. Their activity and circulation rate are assessed by an Anti-Xa assay. The current recommendation for scheduled surgery is an assay with an anti-Xa activity of less than 50 ng/mL.

The acquisition of this assay and the wait for a decrease in anti-Xa activity are currently a factor of lengthening the surgical delay leading to proposal a new dosage. By offering the possibility of surgical management with an anti-Xa activity of less than 100 ng/ml, the purpose is to demonstrate a reduction in surgical delay (less than 48 hours) and associated complications. One of the secondary purposes is also to demonstrate that there are no more intra and post-operative complications with this new protocol.

Eligibility Criteria:
Inclusion Criteria :

* Patients on NACO undergoing surgery for fracture of the upper end of the femur,
* 18 years and over,
* Informed patients who did not object.

Exclusion Criteria :

* Patients under court protection,
* Patients under guardianship/curators .
Safety and Efficacy of Dutogliptin in Patients With Type 2 Diabetes Mellitus (T2DM) on Background Therapy With Glimepiride With or Without Metformin

This study will evaluate the safety and efficacy of dutogliptin in patients with type 2 diabetes mellitus (T2DM) who are receiving background therapy of glimepiride with or without metformin.


Eligibility Criteria:
Inclusion Criteria:

* Type 2 diabetes mellitus, diagnosed at least 3 months prior to Screening (Visit 1)
* BMI 20 to 48 kg/m2, inclusive
* HbA1c 7.0% - 10.0%, inclusive
* Age 18 to 85 years, inclusive

Exclusion Criteria:

* Currently on 3 or more oral antidiabetic drugs or insulin.
* Type 1 diabetes mellitus
Intervening in Food Insecurity to Reduce and Mitigate (InFoRM) Childhood Obesity

The goals of this study are to 1) pilot the feasibility of a novel meal kit delivery intervention in families and children with food insecurity and obesity and 2) evaluate the implementation of the pilot intervention.

Childhood obesity prevalence is rising in the U.S. and is known to track into adulthood, increasing the risks of chronic diseases such as type 2 diabetes. Households of children with obesity also face unmet social needs, such as food insecurity. Food insecurity is associated with poorer dietary quality and higher prevalence of obesity and diabetes in adults; however, data are inconsistent and less known regarding longitudinal health effects in children. Because food insecurity and childhood obesity tend to co-occur in Black, Hispanic, and lower-income households, there is an urgent need to examine and intervene in the social determinants associated with rising childhood obesity prevalence.

Eligibility Criteria:
Inclusion Criteria:

* Children \>=6 years and \<12 years old with a BMI \>=95th percentile
* Children who screen positive on the 2-item Hunger Vital Sign™
* Children living in a household of \<=5 people
* Children living with an English and/or Spanish-speaking caregiver
* Children living within the EatWell delivery map boundaries in the greater Boston area

Exclusion Criteria:

* History of food allergies or intolerance to dairy, gluten, soy, or any potential component of the meal kit
* History of malabsorptive intestinal disease (e.g., Crohn's disease, celiac disease)
* History of type 1 or 2 diabetes
* History of solid tumor or bone marrow transplant
* Enteral tube dependence
The U.K. NorthStar Clinical Network

The goal of this natural history study is to capture the natural history of Duchenne Muscular Dystrophy (DMD) in children and adults in the United Kingdom. Children and adults with DMD will be invited to join.

The primary objective of the study is to collect longitudinal data on motor and respiratory function in DMD patients from childhood to adulthood.

The secondary objectives of the study include collection of longitudinal data on other aspects of natural history on DMD, including respiratory, cardiac and endocrine complications, neurodiversity (cognitive impairment, neuro-behavioural disorders such as ADHD and autism), changes to bone density and occurrence of fractures, changes to puberty, incidence of scoliosis, unplanned hospital admissions, and quality of life. The study will also collect information on ethnicity.

Participants will attend an annual or bi-annual neuromuscular clinic, and will have a series of assessments and questionnaires with the study team. These include: key medical data, physiotherapy data, respiratory assessments, Quality of Life questionnaires, and DMD questionnaires. Following assessments and questionnaire completion, data is input into the study's tailor-made National Neuromuscular Database.

This study will make use of the existing NorthStar network to collect a wider range of clinically relevant data from paediatric and adult DMD patients, to describe more completely the natural history of the disease in different domains and across different life stages and disease phases. Data will be collected using assessment techniques and outcome measures appropriate to the major phases of the disease, and which are in some cases not currently part of the standard of care for DMD in the UK. The National Neuromuscular Database will continue to be used to collect and store these data. This study will allow the network to continue to describe the current natural history in DMD prospectively, with more robust subject ascertainment and completeness. This will help meet the current need for contemporary natural history data for the evaluation of new therapies, and further research in DMD.

Eligibility Criteria:
Inclusion Criteria:

* All patients with genetically confirmed diagnosis of Duchenne Muscular Dystrophy in the United Kingdom. Recruitment will also be possible in cases in whom the DMD diagnosis is made after a muscle biopsy even if the dystrophin gene variant is still being investigated.

Exclusion Criteria:

* Involvement in clinical trials is not an exclusion criterion nor having had surgical procedures, as this is an observational research study. The regular clinical data of patients in clinical trials will be acquired as part of the clinical follow up.
* Patients based outside of the United Kingdom.
Antihyperlipidemic Effects of Oyster Mushrooms

The primary goal of this study is to evaluate the short-term safety and potential efficacy of oyster mushrooms (Pleurotus ostreatus) for treatment of hyperlipidemia in HIV-infected patients who are taking Kaletra, a protease inhibitor (PI) that is commonly used in highly active antiretroviral therapy (HAART).

This is a single-arm, open-label, 8-week "proof of concept" pilot study in 20 subjects to determine if there are detectable lipid-lowering effects of oyster mushrooms in patients with HIV and hyperlipidemia who are taking Kaletra (a ritonavir-containing HAART regimen). The study will also assess whether the concurrent administration of oyster mushrooms and such regimens is safe, and investigate the mechanism of action whereby oyster mushrooms may exert their antihyperlipidemic effect.

Eligibility Criteria:
Inclusion criteria:

* Documented HIV infection (positive ELISA and Western Blot or measurable plasma HIV RNA).
* Taking Kaletra (ritonavir/lopinavir), a ritonavir-containing antiretroviral therapy, for at least 12 weeks
* Elevated non-HDL cholesterol \>= 160 mg/dl as defined by the National Cholesterol Education Program guidelines (within 30 days of enrollment)
* AST or ALT \<2.5 times the upper limit of normal (ULN) within 30 days of study entry.

Exclusion criteria:

* Currently receiving antihyperlipidemic treatment (e.g., statins, fibrates, bile sequestrants, niacin)
* Pregnancy or breastfeeding
* Documented history of myopathy or myalgias on HMG-CoA reductase inhibitors
* Documented history of rhabdomyolysis
* Documented diagnosis of diabetes mellitus
* Any condition that, in the judgment of the investigator, precludes successful participation in the study.
Study to Evaluate the Efficacy and Safety of K-808 (Pemafibrate) in Participants With Primary Biliary Cholangitis (PBC) With Inadequate Response to Ursodeoxycholic Acid (UDCA) and/or Obeticholic Acid (OCA) Treatment.

Study to investigate the efficacy and safety of two doses of K-808 (pemafribate) in subjects with PBC.


Eligibility Criteria:
Inclusion Criteria:

* Male or female participant who has a PBC diagnosis as demonstrated by the presence of ≥2 of the following three diagnostic criteria:

  * History of ALP above ULN for at least 6 months
  * History of positive antimitochondrial antibody (AMA) titer or positive PBC-specific antinuclear antibody (ANA) titer
  * Historical liver biopsy consistent with PBC
* Participant has the following qualifying biochemistry value at Screening:

  * ALP ≥1.5 × ULN
* Participant is ≥18 years of age at consent.
* Participant meets all other eligibility criteria outlined in the Clinical Study Protocol.

Exclusion Criteria:

* Participant meets any one of the following criteria at Screening:

  * ALP\>10 × ULN
  * ALT or AST \>5 × ULN
  * Hepatitis C treatment within 5 years of Screening, or active hepatitis C as defined by positive hepatitis C antibody with the presence of hepatitis C virus ribonucleic acid; subjects with active hepatitis B (HBV) infection (hepatitis B surface antigen \[HbsAg\] positive) will be excluded. A subject with resolved hepatitis A at least 3 months prior to the Screening Visit can be screened.
  * Primary sclerosing cholangitis and secondary sclerosing cholangitis (eg, due to cholangiolithiasis, ischemia, telangiectasia, vasculitis, infectious diseases)
  * Alcoholic liver disease
  * History of definite autoimmune hepatitis or PBC/autoimmune hepatitis overlap, defined as both of the following: 1) IgG \>2 × ULN and/or positive anti-smooth muscle antibodies, 2) liver histology revealing moderate or severe periportal or periseptal inflammation
  * Nonalcoholic steatohepatitis (NASH)
  * Gilbert's Syndrome
  * Alpha-1-antitrypsin deficiency, cystic fibrosis, Wilson's disease, hemochromatosis based on historically established diagnosis
  * Drug-induced liver injury (DILI) as defined by typical exposure and history
  * Known condition that involves bile duct obstruction or cholestasis other than PBC, eg, vascular diseases (eg, Budd-Chiari syndrome, sinusoidal obstruction syndrome, congestive hepatopathy), congenital conditions (ductal plate malformations, Caroli syndrome, congenital liver fibrosis), idiopathic ductopenia
  * Hepatocellular carcinoma
* Participant meets any other exclusion criteria outlined in the Clinical Study Protocol.
Combination Therapy of Cord Blood and G-CSF for Patients With Brain Injury or Neurodegenerative Disorders

This open label trial is conducted to investigate the efficacy and safety of the combination therapy of allogeneic umbilical cord blood (UCB) and granulocyte-colony stimulating factor (G-CSF) for patients with brain injury or neurodegenerative disorders.

Current treatments for brain injury or neurodegenerative disorders are palliative rather than curative. Preclinical and some clinical studies suggest that UCB and G-CSF can be used as restorative approach for such disorders.

Eligibility Criteria:
Inclusion Criteria: should be included one of the 4 disorders

* Brain injury: onset duration over 12 months, Age: 19 years or over
* Cerebral palsy: spastic, dyskinetic or ataxic, Age: 19 years or over
* Parkinson's disease: modified Hoehn and Yahr stage 2.5, 3, 4, Age: 30 to 75 years
* ALS: definite of possible ALS, progression during the past 6 months, Age: 19 to 65

Exclusion Criteria:

* Uncontrolled pulmonary, renal dysfunction at enrollment
* Uncontrolled seizure
* Malignant cancer
* Possibility of hypersensitivity to drugs used in this study
* Contraindication to the study intervention or assessment
* Pregnant or breast feeding women
* Non-compliance with the study visits specified in the protocol