cyrilzakka/clinical-trials huggingface dataset:
The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension

The variations of ENaC have an impact on the degradation of epithelial sodium channels and sodium reabsorption, and thus are associated with hypertension and hypokalemia.

Liddle's syndrome is a rare monogenic form of autosomal-dominant hypertension caused by truncating or missense mutations in the C-termini of epithelial sodium channel β- or γ-subunit encoded by SCNN1B or SCNN1G. Our purpose is to determine the hotspot of mutation causing Chinese Liddle's syndrome.

The second purpose is to determine wether the polymorphisms of ENaC are associated with hypertension in Chinese. Some polymorphisms of ENaC associated with hypertension may be genetic risk factors for Chinese hypertension.


Eligibility Criteria:
Inclusion Criteria:

* Clinical diagnosis of hypertension and Liddle's syndrome
* Clinical diagnosis of normal controls with no cardiovascular disease

Exclusion Criteria:

* Hypertension caused by other single gene mutation
A Personalized Nutrition Intervention for Adolescent Depression

This study is being done to test the feasibility of a personalized nutrition eating plan in adolescents with depression. Evidence suggests that dietary quality may affect an individual's mood. A healthy diet includes vegetables, fruit, nuts, seeds, and olive oil, as well as minimally processed whole grains, legumes, and moderate amounts of lean meat, fish, and dairy.

The investigators will examine the feasibility of a personalized nutrition eating plan for children and youth with depression. Previous research has shown that it helps improve depressive symptoms in adults, but it is not clear if the same is true for children and youth.

The proposed 8-week, mixed-methods, single-arm study aims to examine the feasibility of an adjunctive personalized dietary intervention for adolescents with major depressive disorder. The secondary aims are to determine potential barriers and facilitators of implementation and to improve adherence and uptake.

Eligibility Criteria:
Inclusion Criteria:

* diagnosis of MDD as determined by semi-structured diagnostic interview
* access to the internet and a computer or smart phone
* presence of a parent who is willing to participate

Exclusion Criteria:

* adherent to a high-quality diet at baseline
* presence of an eating disorder, as determined by semi-structured diagnostic interview
* currently participating in other dietary programs or studies
* actively attempting to increase or decrease body weight;
* presence of a chronic medical condition;
* unstable psychiatric condition (e.g., mania, active suicidal ideation)
Effects of Exercise on Sleep Quality in Patients With Obstructive Sleep Apnea Syndrome

the investigators aim in this study is to investigate the effects of aerobic and oropharyngeal exercises on sleep quality in patients with Obstructive Sleep Apnea Syndrome (OSAS).

The study will be conducted in a randomized controlled manner. Participants will be divided into groups of 3 equal numbers using the simple randomization method. The control group will not be given exercise. The first intervention group will be given 10-15 minutes of oropharyngeal exercises. In addition to oropharyngeal exercises, the second intervention group will be given 50 minutes of moderate-intensity aerobic exercise at least 3 days a week. Both intervention groups will apply the given exercise program for 8 weeks. All participants will be evaluated 3 times in total, at the beginning of the treatment, at the 4th week and at the 8th week. Epworth Sleepiness Scale, Pittsburgh Sleep Quality Questionnaire, Fatigue Severity Scale, Berlin Questionnaire, 6-minute walk test, Modified Medical Research Council (MMRC) Dyspnea Scale, Functional Results of Sleep Scale (FOSQ) tests will be applied to the participants. Pre- and post-intervention data were statistically analyzed and compared.

Eligibility Criteria:
Inclusion Criteria:

* People who want to participate in the study voluntarily
* People who do not regularly engage in physical activity
* Persons diagnosed with OSAS in the neurology outpatient clinic
* People between the ages of 18-57
* Apnea Hypopnea Index 15-30

Exclusion Criteria:

* Chronic obstructive pulmonary disease, presence of lung disease that may cause respiratory failure
* -Severe cardiac disease, congestive heart failure, detection of ejection fraction in echocardiography, uncontrollable cardiac ischemia
* History of previous cerebrovascular disease
* Neuromuscular disease
* Presence of periodic leg movements
* Serious medical illness or planned surgical intervention
* Psychiatric illness, substance abuse
Establishment and Validation of Early-warning Model of Perioperative Pain for the Elders

This study will collect perioperative pain-related data of elderly patients in multi-centers. Analyzing these collected data to find the high-risk factors of postoperative pain in elderly patients and to establish an early-warning model of perioperative pain in elderly patients, so as to improve the ability of assessing the risks of postoperative pain in elderly patients and providing an early warning.

This study will collect perioperative pain-related data of elderly patients in multi-centers, including: preoperative general data, intraoperative anesthesia and surgical data, clinical laboratory data, postoperative pain and intervention, postoperative complications and quality of life. Analyzing these collected data to find the high-risk factors of postoperative pain in elderly patients and to establish an early-warning model of perioperative pain in elderly patients, so as to improve the ability of assessing the risks of postoperative pain in elderly patients and providing an early warning.

Eligibility Criteria:
Inclusion Criteria:

* 18 years or older
* Undergoing general or regional anesthesia
* Hospitalized for at least 24 hours after surgery
* Able to give informed consent
* Able to read and write

Exclusion Criteria:

* Existing diagnoses of psychiatric or neurologic pathology
* A history of substance abuse
* Admitted to ICU after surgery
* Patients with advanced tumors who have received preoperative chemotherapy or who are expected to receive postoperative chemotherapy.
Venetoclax Combined With Azacitidine and CAG in Refractory/Relapse Acute Myeloid Leukemia

This study aims to assess the therapeutic efficacy and safety of venetoclax in combination with azacitidine and CAG as induction regimen in Patients with Refreactory/Relapse Acute Myeloid Leukemia.

This is an open-label, multicenter, phase II clinical trial to assess the therapeutic efficacy and safety of venetoclax in combination with azacitidine (VA) and CAG (G-CSF priming, low dose cytarabine, and aclarubicin) as induction regimen in Patients with Refreactory/Relapse Acute Myeloid Leukemia(AML).

Previous studies have shown that venetoclax plus intense chemotherapy represent promising efficacy in de novo AML patients with high complete remission rates and good tolerance. Our preliminary results suggest that venetoclax in combination with azacitidine and CAG are well tolerated and effective for patients who were diagnosed with refreactory/relapse AML. Thus, this phase II clinical trial is going to further explore its efficacy and safety. It is expected that about 42 patients will take part in this trial.

Eligibility Criteria:
Inclusion Criteria:

1. Patients ≥ 18 years old and ≤ 65 years old
2. Refractory/Relapse AML patients according to 2016 World Health Organization (WHO) classification;
3. Eastern Cooperative Oncology Group (ECOG) Performance status score less than 3;
4. Liver function: Total bilirubin ≦2 upper limit of normal (ULN); aspartate aminotransferase (AST) ≦3 ULN; alanine aminotransferase (ALT)≦3 ULN
5. Renal function：Ccr（Creatinine Clearance Rate） ≧30 ml/min; Scr (serum creatinine) ≦2 ULN
6. Heart function: left ventricular ejection fraction ≧45%
7. Patients must participate in this clinical trial voluntarily and sign an informed consent form.

Exclusion Criteria:

1. Other diseases；
2. AML with central nervous system (CNS) infiltration；
3. Patients have received prior CAG or VA regimen before；
4. Patients with a life expectancy \<3 months
5. Patients with uncontrolled active infection;
6. HIV infection;
7. Evidence of other clinically significant uncontrolled condition(s) including, but not limited to: a) Chronic hepatitis B virus (HBV) or hepatitis C (HCV) requiring treatment. b) An active second cancer that requires treatment within 6 months of study entry
8. Female who are pregnant, breast feeding or childbearing potential.
9. Patients deemed unsuitable for enrollment by the investigator;
Genomic Profiling of Genetic and Rare Diseases

In Italy, over 2 million patients are affected by Rare Diseases (RD), which pose significant challenges due to their clinical diversity, long diagnostic processes (often 4-5 years), and high socio-healthcare costs. The Italian healthcare system has recognized these challenges, leading to initiatives like a national Rare Diseases (RD) registry, a comprehensive list of Rare Diseases (RDs) eligible for healthcare exemptions, and the establishment of a National Committee for Rare Diseases. Research on the genetic mechanisms of Rare Diseases (RDs) is robust, particularly for innovative therapies, and ranks second to oncology.

The Policlinico Universitario A. Gemelli IRCCS Foundation serves as a key reference institute for Rare Diseases (RD) in Lazio, managing over 10,000 patients through accredited centers. A recent initiative aims to enhance the Rare Diseases network by integrating genomic knowledge with clinical practice. The project focuses on utilizing Next Generation Sequencing (NGS) for early genetic diagnosis, promoting personalized medicine.

Given the challenges the National Health Service faces in resource allocation for Rare Diseases (RD) and the recent approval of a new outpatient healthcare tariff, this initiative is timely. The foundation seeks to replace targeted genetic tests with Whole Exome Sequencing (WES), increasing the identification of molecular conditions and reducing diagnostic turnaround times.


Eligibility Criteria:
Inclusion Criteria:

* Age 0-90 years
* Patients with suspected rare disease/genetic disease diagnosed based on the clinical criteria/instrumental examination performed by a reference physician experienced in the specific condition (e.g., phenotype attributable to a known genetic syndrome, known neuromuscular disease, known organ-specific disease such as hypertrophic/dilated cardiomyopathy) to undergo genetic analysis
* Patients with a phenotype suggestive of a rare disease/genetic disease not specifically linked to a known condition
* Patients with suspected rare disease/genetic disease, who have undergone quantitative genetic analyses (e.g., array-CGH) or qualitative analyses (e.g., NGS panel of known genes), which yielded negative results
* Patients who have already received a genetic etiological diagnosis and for whom the current project can address further questions such as the personalization of a prevention or therapy pathway.

Exclusion Criteria:

* Individuals (patients, parents, and/or legal guardians) who refuse to participate in the project for any reason.
A Phase 1 Trial to Assess Safety, Tolerability and Pharmacokinetics of ALIA-1758 in Healthy Participants

This is a Phase 1, first in human (FIH), double-blind, placebo-controlled, single ascending dose (SAD) trial to assess the safety, tolerability, and pharmacokinetics (PK) of intravenously (IV) or subcutaneously (SC) injected ALIA-1758 in healthy male and female participants.


Eligibility Criteria:
Key Inclusion Criteria:

* Participants must understand the nature of the trial and must provide signed and dated written informed consent in accordance with local regulations before the conduct of any trial-related procedures.
* Healthy as determined by the Investigator, based on a medical evaluation including medical history, physical examination, laboratory tests and electrocardiogram (ECG) recording. A participant with a clinical abnormality or laboratory parameters outside the reference range for the population being studied may be included only if, in the opinion of the Investigator, the finding is (a) unlikely to introduce additional risk to the participant, (b) will not interfere with trial procedures or confound trial results, and (c) is not otherwise exclusionary (see Exclusion Criteria).
* Body weight of at least 50.0 kg for men and 45.0 kg for women and Body Mass Index (BMI) within the range of 17.5-32.0 kg/m2 (inclusive) at Screening.

Key Exclusion Criteria:

* A history or presence of a clinically significant hepatic, biliary, renal, gastrointestinal, cardiovascular, endocrine, pulmonary, ophthalmologic, immunologic, hematologic, dermatologic, psychiatric, neurologic abnormality, or chronic urinary tract infections.
* A clinically significant abnormality on physical examination, ECG, or laboratory evaluations at Screening or between Screening and (first) dose administration.
* The participant is, in the opinion of the Investigator or Medical Monitor, unlikely to comply with the protocol or is unsuitable for any reason.

Other criteria may apply
A Trial of a Walter Reed Army Institute of Research (WRAIR) Live Attenuated Virus Tetravalent Dengue Vaccine in Healthy US Adults

This descriptive study will evaluate the safety and immunogenicity of 5 different formulations of the WRAIR dengue vaccine compared to a placebo.

Subjects will be randomized into one of 6 groups. One group will receive a placebo vaccine and the others will receive one of 5 different dengue vaccine formations. Each subject will receive two doses six months apart. Study subjects who elect to participate in a mosquito transmissibility component of the study will undergo mosquito feedings during each of the two assigned follow-up visits after vaccine dose 1. All subjects will have 11 venipunctures during 11 visits (i.e., screening plus 10 study visits) over a period of nine months.

Eligibility Criteria:
Inclusion:

* Healthy male or female adult 18-45 years at the time of vaccination
* Free of obvious health problems as established by medical history and physical examination before entering into the study
* Written informed consent obtained from the subject
* Able to read the Subject Information Sheet and Consent Form
* Subjects who the investigator believes can and will comply with the requirements of the protocol
* Females must be of non-childbearing potential, or, if of childbearing potential, she must be abstinent or have used adequate contraceptive precautions as defined in the protocol for 30 days prior to vaccination, have a negative pregnancy test within 48 hours prior to vaccination and must agree to continue such precautions for 60 days after completion of the vaccination series

Exclusion:

History of:

* recurrent migraine headache
* any neurological or behavioral disorder or seizures
* drug abuse or alcohol consumption (more than 2 drinks per day)
* allergic disease/reaction likely to be exacerbated by vaccine
* urticaria related to mosquito bites requiring medical attention
* Acute or chronic, clinically significant pulmonary, cardiovascular, hepatic, renal, hematologic or endocrine functional defect
* Any confirmed or suspected immunosuppressive or immunodeficient condition;
* Seropositive for HBsAg, anti-HCV or anti-HIV
* Acute disease at the time of enrollment
* Chronic hepatomegaly or splenomegaly
* Use of any investigational or non-registered drug or vaccine within 30 days preceding study or planned use
* Planned administration of a vaccine not foreseen by the study protocol 30 days ±each vaccine dose
* Planned move during study
* Chronic administration (defined as more than 14 days) of immunosuppressants or other immune-modifying drugs or administration of immunoglobulins and/or blood products, within 90 days preceding the first dose or planned administration during the study period
* Any chronic systemic drug therapy to be continued during the study period
Photomotor Reflex to Evaluate the Role of the Non-visual Effects of Light in Neurological, Psychiatric and Ophthalmological Pathologies

The light has visual and non-visual effects on organism and can act on the behavior, the mood, the cognition and the sleep. These effects are mediated by "classical" retina photoreceptors which allow vision (rods, cones) but also melanopsin cells. The non-visual effects of light seems to be altered in many neurological, psychiatric or ophtalmological conditions but their exact role in the pathogenesis remains poorly understand. The purpose of the study is to increase our knowledge of the non-visual effects of light and establish new therapeutic applications


Eligibility Criteria:
Inclusion Criteria:

* Man or woman
* Aged 18 years or older
* Subject having signed a free and informed consent
* Subject affiliated to a social protection scheme Arm 1 :Subjects with primary sleep-wake disorder Arm 2 : subjects presenting a neurological pathology with disorder of the controls of the wake and the sleep Arm 3 : subject presenting a psychiatric pathology pathology with disorder of the controls of the wake and the sleep Arm 4 : subject presenting an ophthalmological pathology with possible alteration of the photoreception and / or phototransduction Arm 5 : subjects with photosensitivity with regulation disorder of sleep and wake Arm 6 : healthy subject

Exclusion Criteria:

Age-Related Macular Degeneration (AMD) and all maculopathies (retinopathies pigmentosa, macular involvement of diabetes)

* Cataract with significant vision loss \<5/10
* Chorioretinal neovascularization
* Subject in exclusion period determined by previous or current study
* Impossibility to give the subject information enlightened (subject in emergency situation, difficulties of understanding the subject, ...)
* Subject under the protection of justice
* Subject under guardianship or curatorship
* Pregnancy / Breastfeeding
Outcomes of TAMIS-Total Mesorectal Excision Versus Transanal Loco-regional Excision for T2 Low Rectal Cancer

Cases with stage T2 N0 low rectal cancer will undergo either Transanal minimally invasive total mesorectal excision or transanal minimally invasive locoregional resection.


Eligibility Criteria:
Inclusion Criteria:

* T2 N0 low rectal cancer

Exclusion Criteria:

* patients unfit for laparoscopic resection
* Unwilling to share in the study
Effect of Three Different Sensory Interventions on Pain Level During Heel Blood Collection in Term Infant

Background: Healthy newborns undergo many painful procedures in the first hours of life. Damage caused by painful procedures can lead to structural and functional changes that can affect adult life. Various non-pharmacological methods have been reported in the literature for pain management. The aim of the study is to investigate the effect of the method that appeals to 3 different senses (mother's voice, breast milk smell, mother's contact) on the level of pain during heel blood collection.

Method: The population of the study consisted of babies who were hospitalized in a hospital's neonatal unit between December 2022 and May 2023 and who heel blood taken. The Neonatal-Infant Pain (NIPS) Scale and data collection form were used to obtain the data. 120 newborns who met the study criteria were randomly divided into group 1 (n=30) , group 2 (n=30), group 3 (n=30), control group (n=30). All intervention was continued 5 minutes before the heel blood collection and continued until the 5th minute after the procedure. The mother called her baby between 40 and 60 decibels loudness for group 1. Breast milk was dripped onto the gauze in an amount to wet the entire 2,5cm\*2,5cm sterile gauze and the gauze was then placed close to the baby's nose wings for group 2. Skin-to-skin contact between mother and baby is provided for group 3. NIPS score was saved in 5 minutes before the heel blood collection and continued until the 5th minute after the procedure for all groups.


Eligibility Criteria:
Inclusion Criteria:

* Born between 37+0/7 - 41+6/7 gestational weeks,
* Gestational age and birth weight are compatible,
* Healthy newborns with stable vital signs.

Exclusion Criteria:

* Hearing problems,
* Suction problem
* Congenital anomaly,
* Need hospitalization in the neonatal intensive care unit.
Risk Factors of Hypertensive Urgencies

The purpose of this study is to determine whether frequent hypertensive urgencies increase the risk of cardiovascular events in patients with arterial hypertension.

The spectrum of disorders associated with arterial hypertension (AH) encompasses chronic uncomplicated hypertension and the hypertensive crises, including hypertensive urgences and emergencies. Hypertensive crises accounted for more than 25% of all patient visits to a medical section of an emergency department, with hypertensive urgences (HU) accounting for two-third of these cases. Hypertensive crises, without prompt treatment, are often associated with morbidity and mortality. We propose to conduct a population-based case-control study of HU in areas of the Russian Federation. We will include about thirty study centers and one data coordinating center and will recruit study participants over a period of one years. We plan to conduct in-person interviews with 1,500 cases and 1,500 controls to elicit information on demographic background and history of exposures. We intend to test about 20-25 risk factors of HU thus calculated target number of subject is 3000 pts. We're going to get access to hospital lists in each study center. From the database we'll select patients with AH and recruit every third participant who came to hospital or/and policlinic. Every selected participant will be asked to respond to some questions by phone and be divided into two groups. Participants who have HU two weeks before the call will be questioned about level of arterial pressure and treatment during HU. Participants with often HU (every week or more) will be included into first group (prevalent cases, group A). Participants with seldom HU (every month or less) will be included into second group (controls, group B). Cases and controls will be selected from the same population of AH patients. Questionnaire contains information about age, gender, tobacco use, data about HU (frequency, treatment and its complications), antihypertensive and concomitant treatment, level of blood pressure, regularity of taking antihypertensive drugs, associated clinical conditions (cerebrovascular disease, heart disease, renal disease, peripheral vascular disease), PCI, CABG, if it be possible we intend to collect information of factors influencing prognosis (fasting plasma glucose, dyslipidaemia, serum creatinine, serum uric acid, left ventricular hypertrophy).

Eligibility Criteria:
Inclusion Criteria:

* Cases: every third patient from hospital/policlinic database who are diagnosed with arterial hypertension (SBP/DBP\>140/90 Hg or taking anti hypertensive drugs) and with frequent (weekly or daily) hypertensive urgencies (SBP/DBP≥180/110 Hg) will be potentially eligible for the study.
* Controls will be selected from the same population of participants by random telephone dialing to every third patient with arterial hypertension (SBP/DBP\>140/90 Hg or taking anti hypertensive drugs) and with seldom (monthly, several times in the year or never) hypertensive urgencies.

Exclusion Criteria:

* Hypertensive emergency