cyrilzakka/clinical-trials huggingface dataset:
Study of Metabolic Modifications in Children With Noonan Syndrome

Noonan syndrome (NS) is a rare genetic disease (incidence 1/2500 live births) characterized by the association of craniofacial manifestations, cardiopathies, short stature, and tumor predisposition. The genetic causes of Noonan Syndrome are mutations of genes involved in the Ras/Mitogen-Activated Protein Kinases (MAPK) pathway, mainly the gene encoding the tyrosine phosphatase Shp2 (50% of patients).Shp2 appears to be involved in many facets of energy metabolism control (glucose homeostasis, adipose tissue function...), through mechanisms that are poorly understood. Several metabolic anomalies (reduced adiposity, improved glucose tolerance) have been recently identified in an original mouse model carrying Shp2 mutation. Moreover, recent clinical survey has shown that adult Noonan Syndrome patients are protected from developping overweight and obesity when compared to the general population. However, the metabolic status associated with Noonan Syndrome condition has not been explored to date.

Differential hormone sensitivity is associated with Noonan Syndrome and participates in the development of some symptoms. The investigators have demonstrated that MAPK upregulation in Noonan Syndrome is responsible for partial growth hormone (GH) insensitivity, and subsequent growth retardation.

Clinical traits evocative of energy metabolism dysfunctions have been recently reported in Noonan Syndrome patients, although the origins and consequences of these metabolic changes have not been documented to date. The aim of this study is to explore the metabolic status of children with Noonan Syndrome.

Children with Noonan Syndrome will be compared with age- and sex-matched healthy children. The investigators hypothesize than Noonan Syndrome children have an increased insulin sensitivity compared to GHD children.

Study parameters will be collected including: clinical measurements (height, weight, body mass index, waist circumference, and blood pressure), glucose and insulin levels at baseline and after an oral glucose tolerance test (OGTT), body composition measured by dual-energy x-ray absorptiometry (DXA).

The study will include only one visit.

Eligibility Criteria:
Inclusion Criteria:

* Noonan syndrome genetically confirmed
* Informed consent obtained from children and parents

Exclusion Criteria:

* Chronic disease associated with variation of insulin sensitivity: body mass
* Treatment associated with variation of insulin sensitivity: corticoid treatment \> 5 days preceding the study inclusion
* Tumoral disease (leukemia) in treatment
Study of Effectiveness of Telemedicine in Identifying Diabetic Retinopathy Cases

The aim of this study is to compare the effectiveness of identifying diabetic retinopathy using tele-medicine based Digital Retinal Imaging in Diabetes Clinics with that of the conventional referral system.

Hypothesis: Tele-medicine based digital retinal imaging involving a diabetes centre will identify proportionately more diabetic patients with DR and lead to higher acceptance rate with subsequent ophthalmic referral and management

The design is a cluster randomized trial of tele-medicine versus usual care in diabetic patients. The primary outcome of the study is the proportion of patients with confirmed DR at Aravind Eye Hospital (AEH). DR will be graded using the International Clinical Diabetic Retinopathy Disease Severity Scale. A sample size of 616 patients in both arms is required to detect a risk ratio of 1.8 or above at 90% power, 1% alpha and a design effect of 2. Eight clinics will be recruited and equally randomized to tele-medicine or usual care stratified by distance from AEH. Inclusion criteria include a confirmed diagnosis of diabetes, age over 50, no retinal exam in the previous year. In the tele-medicine arm patients will be offered fundus imaging and patients diagnosed with DR or probable DR will be counselled to visit AEH to confirm DR. In the usual care arm, the eligible patients will be counselled and referred to undergo an eye examination at AEH. In both the arms the counselling and the awareness creation materials will be standardized. Fundus imaging will be offered at the end of the study to those who refuse initially and all those in the usual arm who did not attend AEH.

Eligibility Criteria:
Inclusion Criteria:

* Diabetic patients (as per ICD-9 code 250) in the age group of ≥50 years

Exclusion Criteria:

* Patients \<50 years of age
* Already enrolled as study patients at the diabetes centre
* Patients screened for DR in free camps organized by the diabetes centre
* Diabetic patients who underwent retinal examination in the previous year prior to this intervention
* Patients with disability (physical or mental) who have difficulty in travelling to the eye hospital
A Study of AK117/AK112 in Metastatic Triple-Negative Breast Cancer

This trial is a Phase II study. The purpose of this study is to evaluate the efficacy, safety, and pharmacokinetics of AK117/AK112 administered with chemotherapy in participants with locally advanced or metastatic triple-negative breast cancer (TNBC) who have not received prior systemic therapy for metastatic breast cancer (mBC).


Eligibility Criteria:
Inclusion Criteria:

* Metastatic or locally advanced, histologically documented TNBC characterized by absence of human epidermal growth factor 2 (HER2), estrogen receptor (ER), and progesterone receptor (PR) expression
* No prior chemotherapy or targeted systemic therapy for inoperable locally advanced or metastatic TNBC
* Eligible for taxane monotherapy
* A representative formalin-fixed, paraffin-embedded tumor specimen in paraffin blocks, or at least 5 unstained slides with an associated pathology report documenting ER, PR, and HER2 negativity.
* Eastern Cooperative Oncology Group performance status of 0 or 1
* Measurable disease as defined by RECIST v1.1
* Adequate hematologic and end-organ function

Exclusion Criteria:

* Known central nervous system (CNS) disease, except for asymptomatic CNS metastases
* Leptomeningeal disease
* Pregnancy or lactation
* History of autoimmune disease
* Prior allogeneic stem cell or solid organ transplantation
* Positive test for human immunodeficiency virus
* Active hepatitis B or hepatitis C
* Receipt of a live, attenuated vaccine within 30 days prior to randomization, during treatment
Testing Mestinon and Exercise in Fibromyalgia

The purpose of this trial was to test the combined and independent effects of 6 months of exercise and Mestinon in people with fibromyalgia. Specifically, we wanted to determine if Mestinon helped people with fibromyalgia have an easier time exercising and if their symptoms improved by the end of the trial.

Earlier, we demonstrated that people with fibromyalgia fail to make adequate growth hormone when they exercise intensively. We also demonstrated that a single dose of Mestinon helped people make normal levels of growth hormone when they exercised in our laboratory. We wanted to know if 6 months of exercise with concurrent Mestinon therapy would make growth hormone (and related markers) normal and improve fibromyalgia symptoms.

Eligibility Criteria:
Inclusion Criteria:

* Have Fibromyalgia

Exclusion Criteria:

* Subjects will be excluded if they have a history of rheumatic disease or other disorder that may compromise ability to safely complete study protocol, be pregnant, nursing, or currently involved in unresolved litigation.
Low-dose Molecular Breast Imaging: Comparison of Breast Cancer Detection Rate at Initial Screening and Two-year Follow-up

The purpose of this research is to evaluate whether repeating a screening Molecular Breast Imaging (MBI) study two years after an initial screening MBI study further improves breast cancer detection in women with dense breast tissue.


Eligibility Criteria:
Inclusion Criteria:

- Past prior screening mammogram within the previous 11-24 months interpreted as heterogeneously dense or extremely dense and negative or benign \[Breast Imaging Reporting and Data System (BI-RADS) Category 1 or 2\]

Exclusion Criteria:

Subjects will be excluded if they:

* Are unable to understand and sign the consent form
* Are pregnant or lactating
* Are physically unable to sit upright and still for 40 minutes
* Have self-reported signs or symptoms that may suggest breast cancer (palpable mass, bloody nipple discharge, axillary mass, etc.)
* Have had needle biopsy within 3 months, or breast surgery or radiation within 1 year prior to the study
* Are currently receiving chemotherapy or tamoxifen, raloxifene, or an aromatase inhibitor for adjuvant therapy or chemoprevention
* Have undergone bilateral mastectomy
* Have had a prior MBI within 20 months of scheduled study MBI.
Hypoxia Impairs Endothelial Function in HAPEs

Aim of the study is to investigate the function of the systemic vascular endothelium in individuals susceptible to high-altitude pulmonary oedema during normoxia and normobaric hypoxia.

Rationale: High-altitude pulmonary edema (HAPE) is characterized by excessive pulmonary vasoconstriction and is associated with decreased concentrations of nitric oxide (NO) in the lung. Objectives: We hypothesized that individuals susceptible to HAPE (HAPE-S) would also have dysfunction of the vascular NO vasodilator pathway during hypoxia in the systemic vasculature. Methods: During normoxia (FI(O(2)) = 0.21) and 4 hours of normobaric hypoxia (FI(O(2)) = 0.12, corresponding to an altitude of 4,500 m above sea level) endothelium-dependent and endothelium-independent vasodilator responses to intraarterial infusion of acetylcholine (ACh) and sodium nitroprusside, respectively, were measured by forearm venous occlusion plethysmography in nine HAPE-S subjects and in nine HAPE-resistant control subjects. Main Results: Pulmonary artery systolic pressure increased from 22 +/- 3 to 33 +/- 6 mm Hg (p \< 0.001) during hypoxia in control subjects, and from 25 +/- 4 to 50 +/- 9 mm Hg in HAPE-S subjects (p \< 0.001). Despite similar responses during normoxia in both groups, ACh-induced changes in forearm blood flow markedly decreased during hypoxia in HAPE-S subjects (p = 0.01) but not in control subjects. The attenuated vascular response to ACh infusion during hypoxia inversely correlated with increased pulmonary artery systolic pressure (p = 0.04) and decreased plasma nitrite correlated with attenuated ACh-induced vasodilation in HAPE-S subjects (p = 0.02). Conclusions: Hypoxia markedly impairs vascular endothelial function in the systemic circulation in HAPE-S subjects due to a decreased bioavailability of NO. Impairment of the NO pathway could contribute to the enhanced hypoxic pulmonary vasoconstriction that is central to the pathogenesis of HAPE.

Eligibility Criteria:
Inclusion Criteria:

Healthy, male volunteers, age: 18-55

- Able and willing to give written informed consent

Exclusion Criteria:

* Known condition causing endothelial dysfunction (e.g. diabetes, hyperlipidaemia, arterial hypertension, smoking, hyperhomocysteinaemia)
* Regular medication and/or treatment with drugs within the last 4 weeks (exclusion has to be decided in each case)
* Acute or chronic illness
* Participation in clinical trial/blood donation within 2 month before the study
* Nicotine, drug and/or alcohol abuse.
Trial in Adult Subjects With Spinocerebellar Ataxia

The primary purpose of this study is to compare the efficacy of BHV-4157 (Troriluzole) 140 milligrams (mg) once daily versus placebo after 8 weeks of treatment in subjects with spinocerebellar ataxia (SCA).

The study was conducted in 2 phases: Randomization Phase (8 weeks) followed by an open-label Extension Phase (48 weeks). During the Randomization Phase, participants received either Troriluzole 140 mg or matching placebo up to 8 weeks. Participants who agreed to enter the Extension Phase continued dosing of Troriluzole 140 mg for 48 weeks. The study was subsequently amended to follow participants for a total of 192 weeks in the Extension Phase.

Eligibility Criteria:
Key Inclusion Criteria:

* Subjects with a known or suspected diagnosis of the following specific hereditary ataxias: SCA1, SCA2, SCA3, SCA6, SCA7, SCA8 and SCA10
* Ability to ambulate 8 meters without assistance (canes and other devices allowed)
* Screening total Scale for the Assessment and Rating of Ataxia (SARA) score ≥8
* Score of ≥ 2 on the gait subsection of the SARA
* Determined by the investigator to be medically stable at baseline/randomization and must be physically able and expected to complete the trial as designed

Key Exclusion Criteria:

* Any medical condition other than one of the hereditary ataxias specified in the inclusion criteria that could predominantly explain or contribute significantly to the subjects' symptoms of ataxia
* Mini Mental State Exam (MMSE) score \< 24
* SARA total score of \> 30 points at screening
* Clinical history of stroke
* Active liver disease or a history of hepatic intolerance to medications that in the investigator's judgment, is medically significant
Acceptability and Tolerance Study of New Oral Nutritional Supplement PRAGUE

Tolerance and Acceptability of new oral nutritional supplement - AYMES PRAGUE

To evaluate tolerance and acceptability of AYMES PRAGUE in patients requiring supplementary oral nutritional support compared with currently available alternatives, measuring outcomes of GI effects, Compliance, product preference,convenience etc.

To obtain data to support an ACBS submissions for AYMES PRAGUE (to allow for prescription in the community at NHS expense).

Eligibility Criteria:
Inclusion Criteria:

* Adult patients (≥18 years) who are able to communicate their views regarding acceptability.
* Patients established on an oral nutritional supplement, being prescribed 1-2 ONS providing approximately 300kcal/day
* Patients expected to require oral nutritional supplementation for at least 2 further weeks.
* Informed consent obtained.

Exclusion Criteria:

* Participation in any other studies involving investigational or marketed products concomitantly or within two weeks prior to entry into the study
* Patients requiring a milk-free diet
* Patients with medical or dietary contraindication to any feed ingredients (see appendix 2 of protocol for full list)
* Patients with significant renal or hepatic impairment
* Patients with swallowing impairment requiring thickened fluids
* Patients with inflammatory bowel disease or previous bowel resection.
PACESETTER: Program to Avoid Cerebrovascular Events Through Systematic Electronic Tracking and Tailoring of an Eminent Risk-factor

Program to Avoid Cerebrovascular Events through Systematic Electronic Tracking and Tailoring of an Eminent Risk-factor (PACESETTER) aims to assess the incorporation of its stroke intervention into 2 safety net/academic health sytems in a given US state especially burdened by stroke, thereby enhancing knowledge about the complexity of stroke interventions, and especially the nature of the challenges encountered in low resource settings and for populations traditionally underrepresented in research. Altogether, the intervention, if proven implementable and effective, may eventually be exported to other medically underserved populations in the US beyond SC as a feasible model of post-stroke management.


Eligibility Criteria:
Inclusion Criteria:

* African American or non-Hispanic white
* history of stroke (within six months of symptom onset)
* uncontrolled HTN (SBP ≥ 130 mmHg at the last clinical encounter post-stroke prior to recruitment)
* owning a smartphone with a data plan
* able to take their own BP and self-administer medications.

Exclusion Criteria:

* Any condition that would limit participation in follow up assessments including severe cognitive impairment/dementia

  * severe global disability (modified Rankin Score ≥ 3)
  * BMI\> 40kg/m\^2
  * Not being able to speak, hear, or understand English
THE ROLE OF HEXAMIDINE DIISETHIONATE (ZAMIDINE®) 1MG/ML 0.6ML EYE DROPS IN THE PROPHYLAXIS OF SURGERY OFTALMIC

Data will be gathered from patients who report having any kind of recurrent conjunctivitis and who, in accordance with clinical practice, are scheduled to have intravitreal injections, glaucoma surgery, cataract surgery, vitrectomy, combined cataract and vitrectomy, or corneal transplantation.

The data will be obtained using pseudonyms from the patients' medical records and will include the outcomes of swabs and surgeries performed in accordance with clinical practice for the patient's condition.

The following swabs will be taken into consideration for data analysis:

Four days before to surgery, a conjunctival swab is used to check for the presence and load of species that do not make up the typical conjunctival flora (Baseline-T0).

On the day of operation, a conjunctival swab is taken before to entering the recovery room (T1).

Following three minutes of 5% iodopovidone instillation in the eye to be operated on, a conjunctival swab (T2) was used.

Additionally, we will gather follow-up data from the medical record 24 and 30 hours after surgery (at day 34 +/- 7 days).

To determine if Zamidine® reduces ocular surface bacterial flora in surgical prophylaxis.

Secondary goals. To quantify and qualitatively evaluate ocular surface bacterial flora,

* Compare bacterial load before and after surgery with 5% iodopovidone.
* Determine sample endophthalmitis incidence. The study will include patients who are scheduled for intravitreal injections, glaucoma surgery, cataract surgery, vitrectomy, combined cataract and vitrectomy, corneal transplantation, and any type of recurrent conjunctivitis.

Data from patients' medical records will be pseudonymized and contain swabs and operation findings according to clinical practice for their condition.

Following swabs will be analyzed for data:

- a conjunctival swab four days before surgery to detect and quantify non-native organisms.

A conjunctival swab before operation day's recovery room (T1).

- a conjunctival swab (T2) after 3 minutes of 5% iodopovidone in the operative eye.

Follow-up data at 24 and 30 days after surgery (day 34 +- 7 days) will be collected from the medical record.

Eligibility Criteria:
Inclusion Criteria:

1. Age 18 years or older, male and female;
2. Patient requiring ophthalmic surgery (intravitreal injections, glaucoma surgery, cataract surgery, vitrectomy, combined cataract and vitrectomy, corneal transplantation) and in need of antiseptic surgical prophylaxis (e.g., Zamidine®)
3. Positive history of recurrent conjunctivitis in the eye requiring surgery.
4. Written informed consent.

Exclusion Criteria:

1. Age \< 18 years;
2. Refusal to give informed consent.
Research on Infarction With Open Arteries Using OCT and CMR

The purpose of this study is to determine the prevalence of plaque disruption and to assess the composition of disrupted plaques in patients with myocardial infarction (MI) and non-obstructive coronary artery disease (CAD) using optical coherence tomography (OCT). Additionally, cardiac magnetic resonance imaging (CMR) will be used to detect myocardial abnormalities, which will be correlated to OCT findings to gain insight into the mechanisms of MI in patients with non-obstructive coronary artery disease (i.e. "open arteries").

In this single center, observational study, patients of both sexes with MI who are referred for cath will be enrolled. Those who have no obstructive CAD on clinically indicated coronary angiography, defined as no stenosis of \>50% in any major epicardial vessel, will undergo coronary OCT just after the clinically indicated diagnostic angiogram, and CMR within 1 week, typically within 72-96 hours. Participants will be followed for clinical events for at least 1 year. 20 fully eligble participants will be recruited at NYU Langone Medical Center and Bellevue Hospital Center among a projected 200 enrolled patients.

Eligibility Criteria:
Inclusion Criteria:

* Acute ischemic symptoms compatible with diagnosis of acute coronary syndrome (ACS) (chest pain or anginal equivalent symptoms at rest or new onset exertional anginal equivalent symptoms)
* Objective evidence of myocardial infarction (either or both of the following): Elevation of troponin to above the laboratory upper limit of normal (ULN) or ST segment elevation of ≥1mm on 2 contiguous ECG leads
* Willing to provide informed consent and comply with all aspects of the protocol
* Age ≥ 21 years

Exclusion Criteria:

* Stenosis ≥50% of any major epicardial vessel on invasive angiography, as determined by the angiographer at the time of clinically ordered cardiac cath.
* History of known obstructive CAD at angiography, including history of percutaneous coronary intervention (PCI) or coronary artery bypass grafting (CABG)
* Recent use of vasospastic agents, such as cocaine, triptans, ergot alkaloids (≤1 month)
* Alternate explanation for troponin elevation, such as hypertensive urgency, acute exacerbation of heart failure, chronic elevation due to kidney disease, pulmonary embolism, cardiac trauma
* Coronary dissection apparent on angiography
* Excessive coronary tortuosity which, in the opinion of the angiographer, increases the risks of OCT
* eGFR\<30 or contraindication to additional contrast needed for OCT in the opinion of the angiographer or treating physician
* Contraindication to MRI (including but not limited to MRI-incompatible metal implants or foreign bodies)
* Pregnancy
* Thrombolytic therapy for STEMI (qualifying event)
Joint Awareness After Total Knee Replacement

Total knee replacement (TKR) is accepted as treatment of choice for end stage gonarthrosis. It is performed cemented or cementless and although cemented implants were shown to decrease bone density more than cementless fixations there is no evidence-based difference between them in the literature. As far as the investigators are concerned, the effect of cementation on patients' joint perception has never been studied so far.

In this longitudinal case-control study, joint awareness in prosthetic reconstruction was evaluated in 150 knees (75 cemented TKR, 75 cementless TKR) of 136 patients. They were operated between 2015 and 2017 in our institution with minimum 5 years of follow up. All the patients in each group were operated by two senior surgeons that were experienced for more than 10 years in arthroplasty. To reduce selection bias, logistic regression was used to develop propensity-matched pairs based on gender, age, body mass index (BMI), preoperative coronal plane deformity, preoperative range of motion (ROM) and appropriateness for TKA indication. Demographic and clinical data including sex, age and time since surgery were collected. The subjects' joint perception and the WOMAC clinical scores were recorded and compared. Joint awareness is assessed with Forgotten Joint Score (FJS) which has 12 questions and with Patient's Joint Perception questionnaire (PJP) which is a single question with 5 possible answers, rating from the highest expected result "like a native or natural joint" to the worse possible case "a non-functional joint". Other than clinical scores, laboratory parameters, blood transfusion needs, tourniquet time, complications (septic/aseptic loosening, periprosthetic fracture, instability) and revision rates were also compared.

Eligibility Criteria:
Inclusion Criteria:

* primary knee osteoarthritis
* "appropriate'' TKA indication according to Modified Escobar System

Exclusion Criteria:

* secondary osteoarthritis
* previous surgery to the knee
* valgus knee
* uncontrolled diabetes