cyrilzakka/clinical-trials huggingface dataset:
International CRDS Registry

Calcium Release Deficiency Syndrome (CRDS) is a newly discovered genetic arrhythmia syndrome that confers a risk of life-threatening arrhythmias secondary to RYR2 loss-of-function. The International CRDS registry has been designed to facilitate large-scale evaluation of CRDS, including its phenotypic spectrum, approaches to risk stratification, and optimal treatment strategies.

Calcium Release Deficiency Syndrome (CRDS) is a recently discovered inherited arrhythmia syndrome that predisposes to malignant ventricular arrhythmias and sudden cardiac death (SCD). The underlying genetic culprit of CRDS is RYR2, which encodes the cardiac ryanodine receptor. In contrast to Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), which stems from pathogenic RYR2 gain-of-function, CRDS manifests secondary to RyR2 loss-of-function. Enrolment into the CRDS registry requires that the putative disease causing RYR2 variant is confirmed to result in a loss-of-function on in vitro functional analysis. Individuals possessing an RYR2 truncating variant or large copy number variant will be eligible for enrolment into a second registry arm. Patients with a suspected CRDS diagnosis whose RYR2 variant is found not to impact function will be entered into a control arm of the registry.

Given its recent discovery, our understanding of CRDS remains in its infancy. The International CRDS registry has been designed to facilitate evaluation of large numbers of CRDS patients and enable robust insights to hopefully improve management of affected patients and families.

Eligibility Criteria:
CRDS Cohort

Inclusion Criterion:

- Presence of a rare\* RYR2 variant that is characterized to be loss-of-function based on in vitro testing#

RYR2 Truncating and Large CNV Cohort

Inclusion Criterion:

- Presence of a rare\* RYR2 truncating variant and/or large copy number variant involving the RYR2 gene.

Carriers of a Non-Functional RYR2 variant

Inclusion Criterion:

- Presence of a rare\* RYR2 variant that is characterized to be neither loss- nor gain-of-function based on in vitro testing#

\*rare defined as gnomAD prevalence \< 0.1%

#RYR2 in vitro functional testing will be performed in the laboratory of Dr. Wayne Chen (University of Calgary)
Traditional Chinese Medicine(TCM) Syndrome Classification of Idiopathic Pulmonary Fibrosis(IPF) and Metabolomics

The pathogenesis of idiopathic pulmonary interstitial fibrosis is complex, and there is no specific biomarkers, the treatment effect is not such useful. Currently, it is discovered that Chinese medicine treatment may be effective. The investigators select patients with idiopathic pulmonary interstitial fibrosis and healthy controls, use metabolomics to study the biological characteristics of idiopathic pulmonary interstitial fibrosis, screen biomarkers of IPF, and label different TCM syndromes of IPF, explore the biological nature of IPF TCM syndromes, find the biological changes that occur during the development and progression of IPF and explore the metabolite marker clusters of IPF. Furthermore, the results of this study may find its diagnostic significance for IPF and Looking for potential targets for future treatment of IPF.


Eligibility Criteria:
Inclusion Criteria:

* Case group inclusion criteria

  1. According to the diagnostic criteria published in 2015, the New Guidelines for the Diagnosis and Treatment of Idiopathic Pulmonary Fibrosis, jointly developed by the American Thoracic Society, the European Respiratory Society, the Japanese Respiratory Society, and the Latin American Thoracic Society;
  2. aged 50 to 85 years old;

Control group inclusion criteria:

Health people match on the age (±3 years old) and gender with case group with 1:1 rate at the same time.

Exclusion Criteria:

* Case group exclusion criteria:

  1. Those with severe heart, liver, kidney and other organ dysfunction or suffering from blood diseases;
  2. with malignant tumors;
  3. Severely infected people;
  4. Pregnant and lactating women;
  5. mental illness, serious obstacles and those who are unwilling to cooperate;

Control group exclusion criteria:

1. Those with severe heart, liver, kidney and other organ dysfunction or blood disease;
2. With malignant tumors;
3. Chest X-ray or chest low-dose CT suggesting intra-pulmonary interstitial fibrosis;
4. With chronic pulmonary diseases such as pulmonary interstitial disease, chronic obstructive pulmonary disease, and bronchial asthma;
5. With connective tissue disease and those with a history of exposure to occupational diseases;
6. Mental illness, serious obstacles and unwilling to cooperate.
Training in Hypoxia to Prevent Acute Mountain Sickness

Some studies suggest that high-altitude related illnesses - like acute mountain sickness - could be prevented by acclimatisation, reached at low altitude using training in simulated altitude. The purpose of this study is to determine whether training in hypoxia is suitable to prevent acute mountain sickness.

In a three week-period, healthy probands undergo 3 times a week a bicycle ergometer training in simulated altitude followed by 1 week passive exposure at simulated low altitude. 5 days after last exposure, a field study starts performing a rapid ascent to the Capanna Regina Margherita (4559m). Acute mountain sickness is assessed by established scoring systems.

Eligibility Criteria:
Inclusion Criteria:

* healthy
* non-smoker
* endurance training min. 2x/week

Exclusion Criteria:

* any diseases
* previous exposure to altitudes higher than 2000m (last 6 weeks)
Study in Patients With Unresectable And Metastatic Melanoma: The Optimize Study

This study evaluates the different patterns of care for patients who have unresectable or metastatic melanoma. The dosing, duration, regimen, indication, and treatments will be observed. The survival rate of these patients will also be observed.

This is a non-interventional, observational study with the primary objective to assess and describe "real world" patterns of care in the treatment of patients with unresectable or metastatic melanoma. A sample size of 1,600 prospective patients will provide sufficient information to explore this primary objective. There will be no forced number of patients enrolled into a specific treatment cohort. Setting or controlling specific treatment enrollment cohort counts would invalidate the results of the primary objective of the study. No primary hypothesis is being tested.

Eligibility Criteria:
Inclusion Criteria:

Prospective cohort patients:

* Diagnosis date must occur on or after March 24, 2011 (date of ipilimumab approval in US)
* Diagnosis of stage III (unresectable) or stage IV melanoma (includes mucosal, uveal acral-lentiginous, leptomeningeal disease)
* Age ≥ 18 years at time of entry into study
* Patients must be actively receiving or scheduled to receive systemic treatment (any line, eg, first, second, third line \[including investigational drugs\]).

  * For patients initiating new treatment, treatment must be started within 28 days after signing informed consent.
  * For patients currently receiving treatment, patients must enroll within the first 21 days of starting new treatment

Retrospective cohort patients:

* Patients with diagnosis of confirmed unresectable stage III or stage IV melanoma (including mucosal, uveal, acral-lentiginous, leptomeningeal disease)
* Age ≥ 18 years at time of unresectable or metastatic melanoma diagnosis
* Initiated therapy for unresectable or metastatic melanoma within 4 years prior to approval of ipilimumab (first immune checkpoint inhibitor therapy approved in US)

  * March 25, 2007 - March 24, 2011
* One year of follow-up data is required from date of therapy initiation, if a patient passed away within the one year of follow-up; such patients are still eligible and the date of death will be collected.

  1. If retrospective patients have at least one year of follow-up data and are then treated with immuno-oncology, immune checkpoint inhibitor therapy, or targeted therapy, these patients will be analyzed separately.

Exclusion Criteria:

Prospective patients:

* Patients participating in a clinical study that does not allow enrollment into a non interventional study or clinical studies in which the investigational treatment is blinded
* Patients who started new treatment \> 21 days
* Patients who enrolled in study but did not initiate treatment before 28 days
* Patients with current malignancies (except non-melanoma skin cancer and the following in situ cancers: bladder, gastric, colon, endometrial, cervical/dysplasia, melanoma, or breast) that requires additional systemic therapy
Prophylactic Laparoscopic Suspension After McCall

There is prove of prolapse prevention in vaginal hysterectomy using the McCall suture. Poor and especially no long-term data exists for a standardized laparoscopic approach, but the few studies could show good anatomic results.

The aim is to test the effectiveness of the laparoscopic McCall suture compared to usual vaginal cuff closure in a randomized controlled double-blinded trial.

182 patients will be enrolled in the study. We randomize the patient before surgery and information about the procedure will be transmitted to the theatre in a sealed envelope. The surgeon will open the envelope just before surgery. For randomization we apply a 1:1 allocation (standard vaginal cuff closure VS standard vaginal cuff closure with McCall sutures). The McCall suture is standardized: we apply a purse-string suture including both USL and the peritoneum.

Follow-up visits measuring POP-Q are planned after 6 weeks and yearly until 5 years.

Eligibility Criteria:
Inclusion criteria

* LSC simple hysterectomy,
* Neg. SS test if premenopausal
* \>18j,
* Consent to participate in the study
* Understanding of the German language

Exclusion criteria

* Prolapse as indication for surgery
* Known or suspected non-compliance
* Additional incontinence procedures
* Patients with deep infiltrating endometriosis
* Irradiation pre- or postoperative
* Pregnancy and lactation.
* Transgender population
* Conversion from laparoscopy to laparotomy
* Inability to understand the study protocol
Text Messaging to Improve Adherence to Clinic Visits and Reduce Early Resumption of Sexual Intercourse After Male Circumcision

Male circumcision (MC) reduces, by more than half, the risk of HIV-1 acquisition. WHO and UNAIDS recommend that "male circumcision should be recognized as an efficacious intervention for HIV prevention especially in countries and regions with heterosexual HIV epidemics and low male circumcision prevalence." As a result, programs have been introduced and scaled up for voluntary medical male circumcision. Kenya leads with the largest expansion of services.

Early resumption of sexual intercourse after MC may have deleterious effects, including higher rates of post-operative surgical complications, and higher HIV acquisition among females in couples that resume sexual activity before certified wound healing. In the context of rapid scale-up of MC, adherence to post-operative clinic appointments allows clinicians to assess wound healing and to deliver risk reduction counseling. Abstinence from sexual intercourse before complete wound healing would reduce the rate of post-operative adverse events and minimize the risk of HIV transmission from HIV-infected men to their uninfected female partners.

To the investigators knowledge, the effect of reminders delivered via text messaging to promote adherence to clinic visits and abstinence after MC has not been investigated. The investigators propose a randomized controlled trial in which men who will have undergone voluntary medical male circumcision at selected sites in Kisumu will be randomized to receive either the intervention (context-sensitive text messages after circumcision) or the control condition (usual care). This study seeks to determine (a) the effect of regular text messages sent to men after circumcision on attendance of the scheduled 7-day post-operative clinic visit versus usual care; (b) the proportion of men who resume sexual activity before 42 days post-procedure after receiving regular text messages versus usual care within the 42 days post-circumcision; and (c) to identify potential predictors of failure to attend the scheduled 7-day post-operative visit and early resumption of sexual intercourse.


Eligibility Criteria:
Inclusion Criteria:

* Male
* 18 years or older
* Have undergone circumcision on the day they are screened for the study
* Currently own a mobile phone with text-messaging capability, and
* Have the mobile phone in their possession at the time of enrollment
* Able and willing to respond to a questionnaire administered via a phone call

Exclusion Criteria:

* Prior participation in a study on male circumcision
* Currently participating in other ongoing research studies
* Any medical condition or situation exists such that study participation would not be in the man's best interest, as determined by the investigator
Tunisian Clinical Registry on Chronic Kidney Disease in Hypertensive Patients

In Tunisia, high blood pressure (HTN) is a public health problem whose prevalence varies from 28.7% to 34.7%. Hypertension can be both, cause and consequence of chronic kidney disease, and its prevalence is quite high in this population. It is both a risk factor for mortality and cardiovascular morbidity, but also a major cause of terminal chronic kidney disease becoming an additional public health concern.

Detecting and diagnosing chronic kidney in all hypertensives at an early stage remains a global public health challenge. A well-conducted treatment makes it possible to reach the blood pressure objective but also to reduce the risk of occurrence of a cardiovascular event and to slow the progression of chronic kidney disease.

In Tunisia, few data exists concerning the prevalence of chronic kidney disease in hypertensive subjects, thus limiting the development and elaboration of preventive measures. A national survey will thus be conducted by the "Kidney and Metabolic Diseases" Working Group under the aegis of the Tunisian Society of Nephrology, Dialysis and Kidney Transplantation. The main objective is to estimate the prevalence of chronic kidney disease in hypertensive tunisian patients.

This is national multicentric cross-sectional survey. The study will be carried out for one month at medical departments and ambulatory clinics of general physicians, family medicine specialists, endocrinologists, specialists in nutrition and metabolic diseases, nephrologists, internal medicine physicians, cardiologists, all physicians caring for non-diabetic hypertensive patients or any healthcare providers in charge of hypertensive patients.

A Steering Committee helps investigators to monitor their patient inclusions, performs audit trails and prepares the statistical analysis plan for the study. Collected data are managed by the DACIMA Clinical Suite®, the electronic data capture platform which complies with the FDA 21 CFR part 11 requirements (Food and Drug Administration 21 Code of Federal Regulations part 11), the HIPAA specifications (Health Insurance Portability and Accountability Act), and the ICH standards (International Conference on Harmonisation).

Eligibility Criteria:
Inclusion Criteria:

* Confirmed Hypertension
* Follow-up at consultation at least for three months before enrollment date
* Informed consent

Exclusion Criteria:

* Hypertension emergency
* Pregnancy
* Kidney transplanted subjects
* Dialysis stage
rTMS in Facilitation of Working Memory in PD

Ten sessions of repetitive transcranial magnetic stimulation yield ability to upregulate the function of primary motor cortex and prefrontal cortex that play key roles in motor and frontal memory processing.

Excitatory (\>3Hz) rTMS could facilitate the brain cortex and neuroplasticity that benefits motor control and working memory when the coil is applied over primary motor cortex or dorsolateral prefrontal cortex.

Eligibility Criteria:
Inclusion Criteria:

* Clinical diagnosis of Parkinson's Disease
* With symptoms of cognitive impairments, such as memory, attention, or language decline.

Exclusion Criteria:

* History of seizure attack
* Alzheimer's disease
* With cardiac pacemaker implantation
Pulmonary Artery Involvement in Takayasu's Arteritis

The purpose of this study is to analyze the clinical manifestations, imaging features, and prognosis-related factors of pulmonary artery (PA) involvement in Takayasu's arteritis (TA), and to explore the early clinical features of PA involvement in TA patients.

Takayasu's arteritis patients with pulmonary artery involvement were enrolled into this study. The demographic information of the patients (age, sex, course of disease), symptoms at their admissions (cough, hemoptysis, dyspnea, palpitations, fever), laboratory examinations (blood lab routines, erythrocyte sedimentation rate, C-reactive protein), and imaging examinations (vascular ultrasonography, computed tomographic angiography, echocardiography, chest CT, CTPA, pulmonary perfusion imaging, pulmonary angiography, PET/CT) were collected by reviewing the cases. The prognostic information was collected by telephone follow-up. The follow-up end point was December 2015.

Eligibility Criteria:
Inclusion Criteria:

* 1.Meet the diagnostic criteria of TA as defined by the American College of Rheumatology (ACR).
* 2.PA involvement: meet at least one of three items: (1) at least one of computed tomographic pulmonary angiography (CTPA), pulmonary perfusion imaging, or pulmonary arteriography suggests thickening of vessel wall, stenosis, aneurysm, or occlusion; (2) 18F-fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT) suggests high intake of local radioactive material in pulmonary artery wall; (3) pulmonary artery systolic blood pressure is higher than 50 mmHg assessed by transthoracic echocardiography (defined as PAH), without left ventricular disease.

Exclusion Criteria:

-
Assessment of Movement Skills in Autism Spectrum Disorder

this study is to explore the degree of impairement in movement skills in children with autistic spectrum disorders

Motor impairments in neurodevelopmental disorders specifically autism spectrum disorder (ASD) , are prevalent and pervasive . However ,sensori-motor development and self-care activities such as bathing, dressing, eating and toileting, remain little explored in comparison to the other areas of development. Some children with ASD have difficulty mastering self-care skills, which we will call daily living skills .

Eligibility Criteria:
Inclusion Criteria:

* all children with autism from the age of 3 years to 18 years

Exclusion Criteria:

* children less than 3 years , children with neurodegenerative disorders or cerebral palsy
iParent2Parent Program for Parents of Children With Juvenile Idiopathic Arthritis

The iParent2Parent program matches parents of children living with arthritis with a trained parent mentor who will provide parents of children newly diagnosed with arthritis: practical coping advice and social support through shared lived experiences. This study will compare two groups of parents: those who are in the iParent2Parent program and those in the control group (no mentor).

Parents/primary caregiver of children with JIA are an often overlooked but essential member of their child's health care team. They are responsible for managing their child's treatment program, and act as advocates for their child to support positive adaptation to JIA and to learn self-management skills for the disease. This is in the context of managing the financial, logistical, emotional, and social demands of parenting in general. Within pediatric tertiary care centres, peer-support programs for parents of children with JIA are often limited or difficult to access. The iParent2Parent Program aims to fill this gap in services by offering a program of trained parent peer mentors who can provide practical coping advice, foster adaptive problem solving, and provide social support via shared lived experience.

Eligibility Criteria:
Inclusion Criteria:

* English speaking caregiver of a child diagnosed with JIA according to ILAR criteria prior to their 18th birthday
* Access to computer capable of using free Skype software

Exclusion Criteria:

* Significant cognitive impairment or major co-morbid illness of parent that impeded ability to engage in program (e.g.; psychosis, active suicidal ideation, cognitive delays that would impact ability to participate and complete questionnaires.)
Systematic Imaging Examination in ODD

To evaluate the diagnostic value of systematic ophthalmologic imaging examination in the diagnosis of embedded optic disc drusen (ODD) in adolescents with mild visual impairment.

Patients are evaluated through optometric examination, fundus photography, visual field examination, OCT, US, and FFA.

Eligibility Criteria:
Inclusion Criteria:

1. Male or female.
2. Age 14-28.
3. The results of visual acuity examination suggest mild visual impairment.
4. The results of ophthalmologic examination showed that the blurred degree of the local boundary of the optic disc was different and the optic disc was congested.

Exclusion Criteria:

1. patients with amblyopia.
2. patients with neurological disease.