cyrilzakka/clinical-trials huggingface dataset:
Familial Aortopathies and Cellular Exploration

The prevalence of hereditary aortic disease (HTAD), responsible for aneurysm or dissection, is estimated at 25%. Mutations in the ACTA2 gene represent the main cause of non-syndromic forms (10-21%). ACTA2 is expressed in vascular wall smooth muscle cells (VSMC) and encodes alpha actin (α-SMA). This actin isoform is in the majority in VSMCs and plays a key role in their contractile properties. The mutations are dominant-negative and lead, in a fibroblast model, to defects in the organisation of the actin cytoskeleton and to an increase in the migratory and proliferative potential of the cells. In vivo, VSCMs exist in a phenotypic continuum ranging from a quiescent differentiated contractile state to a so-called synthetic state in which cells are proliferative, synthesise extracellular matrix elements and exhibit enhanced migratory capabilities. To understand how ACTA2 mutations deregulate VSMC functions and steer them towards a synthetic phenotype, it is necessary to have a cellular model as close as possible to the affected tissue..


Eligibility Criteria:
Inclusion Criteria:

* patient with a mutation in the ACTA2 gene

Exclusion Criteria:

* patient under 18 years of age at the time of inclusion
A Biochip for Rapid Diagnosis of Complicated Urinary Tract Infection

The purpose of this proposal is clinical validation of an electrochemical biochip for rapid pathogen identification and antibiotic susceptibility determination.

Point-of-care identification of pathogens and determination of antibiotic susceptibility will significantly improve the clinical management of urinary tract infection. We have previously developed a biochip based on microfabrication technology capable of rapid detection of pathogens. The specific objectives of the current proposal are: 1) Determination of microbial constituents in spinal cord injury (SCI) patients and development of additional species-specific probes against these pathogens; 2) Development of a rapid antibiotic susceptibility and molecular pyuria assay using the electrochemical biochip; and 3) Clinical validation of the biochip as a diagnostic test for urinary tract infection.

Within a single protocol, two non-interventional studies were conducted at different time points to achieve the aforementioned objectives. Sensitivity and specificity of the electrochemical biosensor based assay was demonstrated in each study.

Eligibility Criteria:
Inclusion Criteria:

* Patients suspected or at risk for complicated urinary tract infections

Exclusion Criteria:

* Gross contamination of urine samples at the time of collection
Comparison of VivaSightTM Double Lumen Tube With a Conventional Double Lumen Tube

Double lumen tube (DLT) is an enotracheal tube that facilitates one lung ventilation. The DLT exact position in the airways is verified by fiber-optic bronchoscopy (FOB) after intubation. The VivaSight TM DL is a single use left DLT with a camera embedded in the tube's right side port. This study was designed to compare the VivaSightTM DL to the standard DLT.

Double lumen tube (DLT) is an enotracheal tube that facilitates one lung ventilation. The efficiency of the DLT depends on its exact position in the airways, as verified by fiber-optic bronchoscopy (FOB) after intubation, and re-verified after positioning the patient on the lateral position. The VivaSight TM DL is a single use left DLT with a camera embedded in the tube's right side port. The view from the camera appears continuously on a monitor. This study was designed to compare the VivaSightTM DL to the standard DLT. The primary end point is the time required for intubation with visual confirmation of DLT position.

Eligibility Criteria:
Inclusion Criteria:

* adult patients undergoing video assisted thoracoscopic lung lobectomy

Exclusion Criteria:

* anticipated difficult intubation, patients who required rapid sequence induction
* patients with known tracheal pathology
Global Patient Registry of Inherited Retinal Diseases

The purpose of this study is to better understand the natural history of Inherited Retinal Disease (IRD) and help inform patient management.


Eligibility Criteria:
Inclusion Criteria:

For Participant Selection:

* Participant has any clinically documented sign(s) and/or symptom(s) consistent with an Inherited Retinal Disease (IRD), or asymptomatic with documented retinal changes detected by imaging or electrophysiology
* Participant has documented genetic variant(s) (known pathogenic, likely pathogenic, or variants of uncertain significance) in relevant genes for any of the following IRDs: X-Linked Retinitis Pigmentosa (XLRP) and/or Achromatopsia (ACHM)
* Participant or legally acceptable representative has provided informed consent (and participant assent, when applicable) in accordance with local requirements
* Participant is able to have relevant visual and/or retinal assessments performed

For Caregiver Selection:

* Caregiver has consent from the associated participant to participate in the study, or participant assent and consent from their legally acceptable representative
* Male or female aged greater than or equal to (\>=)18 years
* Identified by an enrolled participant (or their legally acceptable representative\*) as a primary caregiver
* Caregiver has provided informed consent in accordance with local requirements

Exclusion Criteria:

For Participant Selection:

- Participant has received a treatment in an IRD-related interventional trial, or is being screened for an IRD-related interventional trial

For Caregiver Selection:

- Caregiver has an IRD diagnosis and presents with symptoms (visual impairment)
Glucose-stimulated Pancreatic Islet and Intestinal Blood Flow in Healthy Subjects and in Type 1 Diabetes

Type 1 diabetes is the major type of diabetes in the young. The pathophysiology still needs clarification in order to reach feasible means of preventing the disease. This study aims in defining the differences in pancreatic and intestinal blood flow between subjects with and without type 1 diabetes and validating the methodology to achieve this. Earlier animal studies have demonstrated changes in pancreatic islet blood flow using microspheres. The aim of this study is to test and validate a method for the assessment of islet perfusion in humans using molecular imaging. The investigators hypothesize that glucose-stimulated pancreatic perfusion is enhanced specifically in islets in healthy subjects and that this increase is mostly suppressed in subjects with type 1 diabetes.

Positron emission tomography (PET) is a non-invasive imaging technique, which can be used to study flow and metabolism of different organs. Using radiowater (\[15O\]H2O) and PET, cellular perfusion can be measured directly and noninvasively. Recently, diffusion weighted magnetic resonance imaging (DWI) has also been applied as a complimentary method for the assessment to quantitate changes in pancreatic blood flow.

In the study 10 healthy subjects and 10 subjects with type 1 diabetes will be imaged on two separate days. Pancreatic and intestinal perfusion are first measured with \[15O\]H2O and combined PET/magnetic resonance imaging before and 5 and 15 minutes after intravenous glucose infusion. On the second day, PET imaging is replaced by dynamic DWI conducted in the same time schedule and with intravenous glucose stimulation.


Eligibility Criteria:
Criteria for healthy subjects

Inclusion criteria

* Healthy as judged by history and examination
* Age 18-30 years
* Body mass index (BMI) 18 - 27 kg/m2
* Normal 2 h oral glucose tolerance test

Exclusion criteria

* Any chronic disease
* Pregnancy
* Blood pressure \> 140/90 mmHg
* Smoking
* Presence of any ferromagnetic objects in the body
* Any other condition that could possibly create a hazard to the subject safety, endanger the study procedures or interfere with the interpretation of the study results

Criteria for subjects with type 1 diabetes (T1D)

Inclusion criteria

* T1D diagnosed at least 5 years ago
* Age 18-30 years
* BMI 18 - 30 kg/m2
* Good or moderate glycemic control with long-acting insulin analogue combined with injections of rapid-acting insulin
* Uncomplicated T1D or with minor microvascular complications

Exclusion criteria

* Any other condition or disease possibly affecting circulation, as evaluated by a physician
* Pregnancy
* Blood pressure \> 140/90 mmHg
* Smoking
* Presence of any ferromagnetic objects in the body
* Any other condition that could possibly create a hazard to the subject safety, endanger the study procedures or interfere with the interpretation of the study results
Face-to-Face Vs. Telerehabilitation for Thoracic Hyperkyphosis in Children: a Clinical Trial

This study evaluates the effectiveness of face-to-face versus telerehabilitation programs for children aged 9-12 with thoracic hyperkyphosis, a condition caused by poor posture that leads to excessive forward curvature of the spine. Twenty children participated in a six-week corrective exercise program, either in person or through an online platform. Both approaches significantly improved spinal posture, back muscle strength, and pain levels, with no notable differences in outcomes between the two methods. The findings suggest that telerehabilitation is as effective as face-to-face rehabilitation, offering a flexible option for managing thoracic hyperkyphosis in children.


Eligibility Criteria:
Inclusion Criteria:

* Children aged 9-12 years.
* Diagnosed with thoracic hyperkyphosis (Thoracic Kyphosis Angle \> 40 degrees).
* Able to participate in a 6-week rehabilitation program (face-to-face or telerehabilitation).

Exclusion Criteria:

* Children with congenital spinal malformations.
* Children with mental health issues that could interfere with participation or compliance in the study.
Safety, Efficacy, Pharmacokinetic, and Pharmacodynamic Study of ALXN1820 in Adult Participants With Sickle Cell Disease

The primary objective of this study is to assess the safety and tolerability of ALXN1820 SC (subcutaneous) in participants with SCD (Sickle Cell Disease).


Eligibility Criteria:
Inclusion Criteria:

* Confirmed diagnosis of SCD (HbSS, or HbSβ0-thalassemia).
* Body weight ≥ 40 kg (inclusive) at Screening.
* Must follow protocol-specified contraception guidance while on treatment and for up to 6 months after last dose.
* Hemoglobin between 5.5 and 10 g/dL at Screening
* Have had 1 to 10 VOCs in the past 12 months.
* Patients receiving hydroxyurea must have been on a stable dose for ≥ 3 months prior to providing informed consent, with no anticipated need for dose adjustment during the study.
* Patients will be vaccinated with MCV4 and serogroup B meningococcal vaccinations at least 14 days before dosing, if not already vaccinated within 3 years before the first dose.
* Haemophilus influenzae type b (Hib) and Streptococcus pneumoniae vaccination are up to date according to current national/local vaccination guidelines for patients with SCD.

Exclusion Criteria:

* Planned initiation, termination, or dose alteration of hydroxyurea during the study.
* Receiving Voxelotor (OXBRYTA) or crizanlizumab (ADAKVEO) within 60 days of providing informed consent.
* Receiving treatment with recombinant human erythropoetins (eg, epoetin alfa).
* Treated with complement inhibitors within 6 months prior to the first dose.
* Patients who are on chronic transfusion or receive a transfusion within 60 days of first dose.
* Any significant disease or disorder which, in the opinion of the Investigator, may put the participant at risk.
* Hepatitis B (positive hepatitis surface antigen \[HBsAg\] or positive core antibody (anti-HBc) with negative surface antibody \[anti-HBs\]) or hepatitis C viral infection (hepatitis C virus \[HCV\] antibody positive, except for patients with documented successful treatment and documented sustained virologic response) at Screening.
* Active systemic bacterial, viral, or fungal infection within 14 days prior to dosing.
* Participation (ie, last protocol-required study visit) in a clinical study within 90 days or 5 half-lives of the investigational agent, whichever is longer, before initiation of dosing on Day 1.
* Participation in more than 1 clinical study of a monoclonal antibody (mAb), or participation in a clinical study of a mAb within the 6 months or 5 half-lives of the mAb, whichever is longer, prior to Screening, during which the participant was exposed to the active study drug.
* Severe renal impairment (estimated glomerular filtration rate \[eGFR\] \< 30 mL/min/1.73 m2 ) or on chronic dialysis.
* History of allergy or hypersensitivity to excipients of ALXN1820 (eg, polysorbate 80).
* History of complement deficiency.
* History of N meningitidis, S pneumoniae, or H influenzae infection.
* History of malignancy with the exception of a nonmelanoma skin cancer or carcinoma in situ of the cervix that has been treated with no evidence of recurrence within 5 years.
* Participants who are pregnant or breastfeeding.
Factors Associated With Radiographic Pathophysiology for Trapeziometacarpal Arthrosis in Patients Not Seeking Care for This Condition

The investigators are doing this research study to discover factors, such as job, hobbies, or race that are associated with arthrosis at the base of your thumb on X-rays. Thumb arthrosis is one of the most common kinds of arthritis. About 116 people will take part in this research study at Massachusetts General Hospital (MGH).


Eligibility Criteria:
Inclusion Criteria:

* 55 years and older
* Not seeking care for TMC arthrosis from hand surgeon at the time of visit
* english fluency and literacy

Exclusion Criteria:

-
The Safety, Tolerability, and Effectiveness of Quetiapine in Postpartum Depression

Postpartum depression is a serious disorder that affects approximately 14% of women who have recently given birth. Postpartum depression is either an episode of major depressive disorder (only low periods) or bipolar disorder (periods of lows and highs).

Untreated postpartum depression can negatively affect the mother, the infant and the family. Antidepressants are the most used treatments; however, for many women these drugs are not useful, resulting in a pressing need for effective treatments for postpartum depression. Lack of sleep is common after delivery and can trigger depression in some women. Quetiapine, a drug used for bipolar disorder, major depressive disorder and occasionally sleeplessness has not been well studied in postpartum depression. This study aims to find out how mothers tolerate the drug and whether it is effective for postpartum depression. Results of this study may help investigators carry out a larger study comparing quetiapine and placebo (a sugar pill) in postpartum depression.


Eligibility Criteria:
Inclusion Criteria:

* Outpatient woman between ages 18 - 45
* Within 6 months of delivery
* Have a DSM-5 diagnosis of MDD or BD I, BD II or other specified bipolar or related disorder with peripartum onset
* Have a score of \>18 on the 17-item Hamilton Depression Rating Scale (HDRS)
* Have a score of ≤12 Young Mania Rating Scale (YMRS) at both the screening and baseline visits
* Able to communicate in English
* Capable of providing informed consent

Exclusion Criteria:

* A diagnosis of schizophrenia spectrum or other psychotic disorders, obsessive-compulsive disorder, eating disorders, substance-related and addictive disorders
* At high risk for suicide (actively suicidal or a score of ≥ 3 on item #3 on the HDRS)
* Receiving a psychotropic drug such a mood stabilizer, an antidepressant or a sedative/hypnotic.
* Receiving psychotherapy
* Have a physical illness that is a contraindication to the use of quetiapine, or who have a history of intolerance or nonresponse to quetiapine
* Pregnant or planning on becoming pregnant during the study
Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases. The cells of FA patients are extremely sensitive to MMC and DEB. The symptoms and ages of FA patients are different, so by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.

Heterogeneity of FA. In the research of animal model, the phenotypes of FANCA, FANCC and FANCG knockout mice are similar. They grow up and develop normally, without any severe blood disease or tumor. However, they show chromosome instablity and highly sensitivity to MMC. And they have gonadal dysfunction and fertility defects. From this we conclude that the severe physical deformity of FA patients might be induced by other mutations. By comparing among the FA patients and between FA patiens and normal people, we look forward to find the mutated genes and verify their relationship with the physical deformity.

Even in 90% of FA patients the bone marrow failure will eventually occur, but the starting age ranges from 8-84. And Immuno-inhibition therapy has no effects on FA. Other DNA repair dysfunction diseases have higher rate of tumor, but not so high rate of bone marrow failure as FA does, which implies that the FA protein has the key role in hematopoietic stem cell maintainance. In FancC-/- mice, young mice is insensitive to DNA crosslinks with comet assay, but not adult mice, indicating that the accumulation of DNA damage during time leads to DNA repairment defects. by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.

Eligibility Criteria:
Inclusion Criteria:

All the children that are diagnosed to be FA patients at the Blood Disease Hospital between 08/01/2010 - 07/31/2011, will be asked to participated in this study after acquiring the consent.

Exclusion Criteria:

Can not acquiring content
Chewing Gum Facilitates an Earlier Return to Bowel Function in Pediatric Scoliosis Patients: A Prospective Randomized Study

The purpose of this study is to evaluate the effectiveness of chewing gum on reducing post-operative ileus and reducing post-operative gastrointestinal symptoms in pediatric patients undergoing surgical correction of scoliosis. This study would provide minimal risk to its study population, and has the opportunity to provide a benefit to patients undergoing scoliosis surgery. If shown to be effective, this could lead to changes and improvement of the post-operative course for pediatric scoliosis patients.


Eligibility Criteria:
Inclusion Criteria:

* Otherwise meets criteria for surgical correction of scoliosis
* Mental capacity to understand the purpose of the study
* Idiopathic scoliosis or neuromuscular scoliosis with mild cerebral involvement
* Posterior surgery approach only

Exclusion Criteria:

* Unable to safely chew gum due to oropharyngeal issues or airway issues
* History of GI surgery (G-tube, fundoplication, ostomy etc...)
* Anterior approach
Effect of Nightly Versus Prn Sildenafil on Early Return of Erectile Function Following Laparoscopic Radical Prostatectomy

The ability of sildenafil to aid in the return of erections after nerve-sparing radical prostatectomy has been established. Patients who had either one or both neurovascular bundles spared demonstrated dramatically better responses to "as needed" sildenafil than those that did not, and a positive erectile response to sildenafil was only seen in patients in whom at least one NVB was spared. This study has been designed to determine if sildenafil taken nightly works better than sildenafil on as "as needed" basis for the return of erectile function. The investigators hypothesis is that sildenafil taken nightly promotes a more rapid return of erectile function after nerve-sparing laparoscopic radical prostatectomy.


Eligibility Criteria:
Inclusion Criteria:

1. Male sex
2. Age \< 65
3. IIEF erectile function domain score \> 26 (out of 30 points possible for this subscale)
4. Steady sexual partner
5. Untreated prostate cancer TNM stage \< cT2bNxMx (cT1a, cT1b, cT1c, cT2a) and Gleason grade \< 8.
6. Willingness to participate in a clinical trial as manifested by informed consent
7. Actually undergo nerve-sparing LRP surgery

Exclusion Criteria:

1. Not fulfilling all of the criteria for entry above
2. Any prior prostate cancer treatment (radiation, hormonal deprivation, chemotherapy)
3. Contraindication to sildenafil (e.g. nitrates, hypersensitivity)
4. Existing PDE5 inhibitor requirement for functional erection (e.g. for intercourse) preoperatively
5. Obstructive sleep apnea
Lithothamnion Species on Blood Lactate During Exhaustive Exercise in Trained Cyclists

Deep ocean mineral water has been shown to improve exercise phenotypes in human and animal models. However, there is yet to be an investigation of Algae species such as Lithothamnion that absorb and concentrate these minerals. Therefore, the AAP trial will investigate the effect of water soluble Lithothamnion species on exhaustive exercise-induced blood lactate accumulation, recovery and power output in trained cyclists.

The potential for naturally derived combinations of marine minerals to improve exercise performance is growing throughout the scientific literature and has physiologically plausible mechanisms, likely through the diverse molecular and enzymatic actions of individual (or combinations of) minerals (such as Calcium and Magnesium).

Despite the biological potential, there is little consciences whether mineral supplementation can improving markers of, and exercise performance. One recent investigation of deep ocean mineral water (high in marine minerals) showed that when consumed prior to exercise, blood lactate response improved with hyperthermal running and is supported in animal models - however, this is not supported elsewhere in humans. Nonetheless, others have shown, in human models, that deep ocean mineral water may improve exercise recovery, aerobic exercise performance, improve lower leg power output and hydration status compared to either placebo or sports drink. Furthermore, animal models support these plausibilities with improved mitochondrial biogenesis, biomolecules of exercises performance, cardiovascular hemodynamics, inflammatory cytokine responses to exercise and overall exercise adaptation.

As ocean minerals are absorbed by marine organisms, Algae species such as Lithothamnion have higher concentrations of the same ocean minerals but structured differently at the nano scale and thus may have the potential to be more effective at improving exercise phenotypes. Therefore, the proposed exploratory RCT will investigate the effects of water soluble Lithothamnion species on exhaustive exercise-induced lactate accumulation, recovery and power output in trained cyclists, compared to a placebo.

Eligibility Criteria:
Inclusion Criteria:

* Healthy male trained cyclist.
* Cycling for the purpose of exercise training (i.e. not cycling for transport) at least 100km per week for the last 6 months
* VȮ2peak that is greater than 50 ml˙kg˙ml-1

Exclusion Criteria:

* Any muscle disorder
* Serious medical co-morbidities
* Thyroid dysfunction or specific allergies
* Contraindications to dependent variables
* Currently participation in another research study
* Currently not talking other nutrition supplements