cyrilzakka/clinical-trials huggingface dataset:
Genetic and Immunologic Characterization of IEI

Inborn Errors of Immunity (IEI) include clinically heterogeneous rare genetic diseases depending on mutations in about 300 different genes. Clinically, this group of diseases is characterized by the presence of infectious, inflammatory, autoimmune, and lymphoproliferative symptoms. Understanding the pathogenesis of these diseases can guide the implementation of targeted therapies and improve prognosis.

In recent years, IEI have been described that do not necessarily present with repeated infectious symptoms but rather with autoimmune, lymphoproliferative, and autoinflammatory manifestations, or with forms of immunodeficiency with a spectrum of susceptibility to one or few infectious agents. In this case, simple laboratory tests are not sufficient to characterize the disease since no particular immunophenotypic changes are evident. To correct classify the patients and to improve knowledge on the pathogenesis of the diseases, complex immunologic-functional studies are required. These studies should be started prior to genetic analysis, with the aim of targeting and narrowing it down. Although the ever-decreasing costs of Next Generation Sequencing (NGS) methods make it convenient to analyse many genes or even the entire exome simultaneously, the analysis of the data resulting from NGS can be complex and provide results of uncertain interpretation. In these cases, immunologic-functional studies can clarify the real causal role of the identified genetic variants.

The identification of genotype-phenotype correlation is crucial to establish new therapeutic targets for diseases orphan of specific etiological treatments. In vitro and in vivo disease models are key tools to test drugs repositioning, as was the case for Lapaquistat in the treatment of periodic fevers caused by de-regulation of the cholesterol metabolic pathway.


Eligibility Criteria:
Inclusion Criteria:

* Subjects with suspected IEI

Exclusion Criteria:

* No consent from the patients' guardians
* Subjects undergoing hematopoietic stem cell transplantation.
Survey of Lifestyle and Its Feelings in Families of Patients in Home Parenteral Nutrition

Description of the life style of patients and families during the course of long term HPN.

1. Evaluation of the familial impact of HPN, and the way it is perceived
2. Evaluation of the satisfaction regarding the management by the multi-professional team (Medical, nursing, home care company and logistic, social, psychologist etc..) for improving the global management of these challenging patients
3. Analysis of the factors related to specific distress and the protective factors

Gastrointestinal diseases may cause intestinal failure (IF) requiring long term parenteral nutrition (PN) which is, most of the time, performed at home (HPN).

However such conditions represent a great burden for the parents and the family.

The birth of a child with such disease changes the life of the entire family including life style, leisures, social relationships and professional activities.

These condition obligate to change the personal and familial organization according to the course of the disease. The PN treatment which was seen as life saving when first started might become a burden altogether physically and psychologically for the child and his/her family.

The Necker-Enfants Malades hospital developed home PN in the early eighties as an alternative to very long hospitalizations.

Nowadays, there are 7 expert centers for HPN in France. The Necker HPN program is the oldest and the largest looking after i a third of the 400 children on HPN in France.

Our organization is based on a specializednursing team together with medical doctors specialized in pediatric clinical nutrition.

The nursing team is also a teaching team for training the parents for daily PN care. The HPN team works in collaboration with professional partners: pharmacists, dieticians, psychologists, occupational therapistsand speech specialists as well as with social workers.

Results of our clinical activities have been published in international peer review journals. However those publications reported only clinical data in terms of diagnosis, prognosis, mortality, morbidity and growth.There was any data on family quality of life (QOL) and on life style changes (LSC). In other words, by reporting only on medical aspects, there was any analyze on familial, psychosocial and professional impact of long term HPN.

Eligibility Criteria:
Inclusion Criteria:

* Patients followed up by the Necker HPN expert center
* HPN ≥ 12 months
* HPN between 2004 and 2020
* Parents reading and writing French language

Exclusion Criteria:

* Refusal of the parents to participate to the survey
Preliminary Review of Cold and Active Compression Therapy for Traumatic Calcaneus or Ankle Fractures

This study will examine the initial efficacy and cost-effectiveness of using the cryocompression therapy model both pre-operatively and post-operatively in patients that have recently suffered a traumatic calcaneus or ankle fracture compared to the standard pre-operative RICE therapy procedures.

Initial research has shown that cryocompression therapy applied post-operatively has been effective in reducing recovery time and improving health and pain factors related to patient recovery. However, there has been limited research into how this translates into positive economic outcomes for both the hospital and the patient. In addition, it can be reasonably hypothesized that the use of the cryocompression therapy system before surgery will lead to an increased rate of reduction in swelling necessary to allow proper operative procedures to take place when compared to the standard ice and elevation (RICE) therapy techniques and cryocompression therapy applied only post-operatively. This should lead to decreased hospital costs and possible improved patient outcomes related to recovery.

Study Objectives This study will examine the initial efficacy and cost-effectiveness of using the cryocompression therapy model both pre-operatively and post-operatively in patients that have recently suffered a traumatic calcaneus or ankle fracture compared to the standard pre-operative RICE therapy procedures.

Eligibility Criteria:
Inclusion Criteria:

1. Patients over 18 years of age
2. Able to provide informed consent
3. Recent calcaneus or ankle fracture requiring fixation
4. Injury is determined (by physician) to be an isolated, closed, low-energy bimalleolar fracture

Exclusion Criteria:

1. Unable to provide informed consent
2. History of Dementia or mental instability
3. No recent additional fractures (within one year) at or around injury site
4. Persons with symptoms of any kind of psychosocial disorder
5. Any condition that the clinician feels would contraindicate for the postoperative test or control treatments
6. Any conditions that would contraindicate using the Game Ready
7. If the patient is prevented from transfer to the OR due to reasons other than medically necessary
Lifestyle Intervention and Prevention of Gestational Diabetes Mellitus

The number of women with gestational diabetes mellitus (GDM) had been increasing. Maternal GDM has a great impact on both the health of the mothers and the offspring. Antenatal lifestyle interventions, in particular dietary intervention appear to be feasible to improve maternal GDM and weight gain. To the best of our knowledge, there has been no such trial examining the feasibility of a lifestyle intervention in pregnant women in Hong Kong. Therefore, we plan to conduct a randomized controlled trial comparing a lifestyle modification program (LMP) in early pregnancy and the usual antenatal care in high risk Chinese pregnant women in Hong Kong. Intervention group subjects (n=110) will participate in a dietitian-led LMP including dietary and exercise component from the first antenatal (AN) booking to 24 weeks gestation. 110 women in the control group will receive routine hospital antenatal care. The primary endpoint will be the prevalence of GDM measured using a 75 g oral glucose tolerance test at 24-28 weeks gestation. The secondary endpoints will be the proportion of infant born with large for gestational age (\>=95th percentile of the customized birth weight) and macrosomia (\>=4 kg at birth). The intervention group involves dietary and exercise advice and monitoring. No drug or invasive procedure is involved. The control group will receive routine antenatal care and will be provided with an educational pamphlet on diet and exercise during pregnancy.


Eligibility Criteria:
Inclusion Criteria:

* Chinese origin
* Reside normally in Hong Kong
* Singleton pregnancy
* Gestational age \<= 12 weeks at the time of recruitment
* Could speak and understand Chinese
* Fulfill at least one of the following criteria for high risk of GDM at the time of recruitment based on the update hospital protocol implemented since 1st May 2014
* Maternal age \>= 35 years old at expected date of confinement.
* Prior history of GDM or birth of child \>= 4 kg
* Pre-pregnant BMI or BMI at 1st trimester \>= 25 kg/m2
* Family history of diabetes at 1st degree relatives
* Willing to give informed written consent and follow the study procedures

Exclusion Criteria:

* Concurrent participation in any clinical trial or study
* With renal, liver or thyroid dysfunction, cognitive impairment, or any other indication of a major medical or psychological illness, as judged by the investigators as ineligible to participate the study
* Multiple pregnancies
* Pre-existing DM
* With physical restriction that prevents from exercising
* Substance abuse
Stress, Personality, Attachment and Coping During the Covid Crisis.

Because of containment due to Covid-19, the French High Authority for Health (HAS) recommended reinforced monitoring of patients taken in care in the psychiatric ward, with special attention for people over the age of 65. To meet this recommendation, the geriatrics department of the hospital of Charity of Saint-Etienne hospital and the Vinatier hospital in Lyon organized follow-up of these patients by telephone throughout the containment period, thus allowing continuity of care. This pandemic situation and these measures are unprecedented; it is difficult to anticipate the psychological impact on patients.

The main objective of this study is to evaluate if the type of coping strategies usually employed has an effect on the outbreak of a post-traumatic stress after containment. In addition, a second part of the study will propose to assess the factors influencing the experience of containment such as personality, attachment style or coping strategies.

Eligibility Criteria:
Inclusion Criteria:

* Patients followed by teleconsultation during containment due to COVID 19
* Patient affiliated or entitled to a social security scheme
* Patient who received informed information about the study and who co-signed, with the investigator, a consent to participate in the study (for the part excluding routine care).

Exclusion Criteria:

- Major neurocognitive disorder
Evaluation of Tp-e Interval and Tp-e/QT Ratio in Dermatomyositis and Analysis of Their Relationship With Inflammation

The goal of this observational study is to investigate ventricular repolarization utilizing Tp-e intervals and Tp-e/QT ratios in patients with DM. The main questions it aims to answer are:

* 1.Exploring the changes in ventricular repolarization parameters (QT interval, QTc interval, QTd, Tp-e interval, Tp-e/QT ratio) in patients with dermatomyositis, providing quantifiable indicators for early detection of arrhythmia in dermatomyositis patients;
* 2.Exploring the role of inflammation in ventricular repolarization in DM patients, providing a basis for in-depth research on the diagnosis and prevention of arrhythmia in DM patients.


Eligibility Criteria:
Inclusion Criteria:

Regardless of gender, registered residence and education level, voluntarily participate in this study and sign the informed consent form.

Clinical diagnosis of Dermatomyositis.

Exclusion Criteria:

Previous history of heart disease (such as myocardial infarction, cardiac pacing, congenital heart disease, ischemic heart disease, etc.), chronic kidney disease, etc; Patients with other connective tissue diseases; Pregnant and lactating women.

Taking drugs that affect electrocardiogram indicators, such as macrolides, quinolones, quinidine, amiodarone, antipsychotic drugs, etc.

Patients with severe lack of case data.
Prevention of Incontinence-associated Dermatitis and Maintenance of Local Skin Microclimate：A Multicenter Study

To explore the feasibility of Jefcare Sterile Medical Sheets in preventing incontinence-associated dermatitis and maintaining a stable local skin microclimate in adult patients in the intensive care unit.

Jefcare Sterile Medical Sheet is an incontinence care product designed by researchers following the Expert consensus on the clinical application of disposable absorbent care products for adults with incontinence. The product has good laboratory test indicators and has the potential to prevent incontinence-associated dermatitis and maintain the stability of the local skin microclimate. Still, there is a lack of high-quality clinical studies.

Eligibility Criteria:
Inclusion Criteria:

1. Intensive care unit incontinent patients (incontinence time ≥2 days)
2. Age ≥18 years
3. patients at high risk of IAD (Perineal Assessment Tool ≥ 7)
4. Voluntarily participate in the study and sign an informed consent form. If the subject is unable to read and sign the informed consent form due to incapacitation or other reasons, their guardian is required to represent the informed process and sign the informed consent form. If the subject is unable to read the informed consent form (e.g., illiterate subjects), a witness will be required to witness the informed process and sign the informed consent form.

Exclusion Criteria:

1. Patients who have developed IAD
2. Expected subsequent stay in the intensive care unit \<5 days
3. Use of nappies, pull-ups, incontinence pads, etc.
4. Simple urinary incontinence with indwelling catheterization, external urinary bag without leakage; simple fecal incontinence with built-in drainage device, external ostomy bag, OB tampon without leakage; double incontinence with indwelling catheterization, external urinary bag, built-in drainage device, external ostomy bag, OB tampon without leakage.
5. The IAD may affect the skin area within the scope of the disease that affects the IAD judgment.
6. The IAD may affect the skin area within the scope of the skin breaks, infection
7. Patients who are not suitable for turning and cannot tolerate the side-lying position.
8. Patients with known allergies or keloid scarring
9. Women who are known to be pregnant or breastfeeding or who are planning to have a baby during the study period.
10. Patients who have participated in a clinical trial of another drug or medical device within 3 months.
11. Patients who, in the opinion of the investigator, are not suitable for participation in this clinical trial.
Evaluating the Impact of Automated Evaluation of Gastrointestinal Symptoms (AEGIS) on Clinical Outcomes

Healthcare delivery now mandates shorter visits with higher documentation requirements, undermining the patient-provider interaction. Electronic health records (EHRs) have the potential to improve outcomes and quality of care in this pressured environment, and are endorsed by the Patient Protection and Affordable Care Act (ACA) and Health Information Technology for Economic and Clinical Health (HITECH) Act as an important mechanism to support value-based healthcare. However, EHR systems were principally designed to support the transactional needs of administrators and billers, less so to nurture the relationship between patients and their providers. The purpose of this research is to identify ways to use EHRs to support clinical gastroenterologists and their patients while meeting the meaningful use requirements of the HITECH Act.

To improve clinic visit efficiency and meet criteria for meaningful use, investigators developed a patient-provider portal (P3) that systematically collects patient symptoms using a computer algorithm called Automated Evaluation of Gastrointestinal Symptoms (AEGIS). AEGIS utilizes computerized adaptive testing (CAT) to guide patients through questions drawn from a library of over 300 symptom attributes measuring the timing, severity, frequency, location, quality, and character of their GI symptoms, along with relevant comorbidities, family history, and alarm features. The system then automatically "translates" the patient report into a full narrative HPI available for use by GI providers in an EHR.

In a cross-sectional study in the American Journal of Gastroenterology comparing AEGIS versus physician-documented HPIs, investigators found that blinded physician reviewers perceived that AEGIS HPIs were of higher overall quality, better organized, and more succinct, comprehensible, complete and useful compared to HPIs written by physicians during usual care in academic GI clinics. In the current study, investigators aim to evaluate computer-generated HPIs prospectively on a wider scale in diverse academic and community-based settings. Moreover, investigators aim to test an enhanced AEGIS intervention that ties patient HPIs to an individualized "education prescription" which guides the patient through a library of multi-media educational materials on GI symptoms, conditions, and treatments.


Eligibility Criteria:
Inclusion Criteria:

* Presenting to the gastrointestinal clinic for evaluation.
* Able to read and write English.
* Has basic computing skills.

Exclusion Criteria:

* Having been seen and evaluated in the gastrointestinal clinic within the last 8 months.
Assessing Effects of Heparin Priming and Pass Number on Tissue Quality of Fine Needle Biopsies

This is a randomized study that will enroll patients scheduled for an endoscopic ultrasound biopsy of a pancreas lesion to be in the heparin or saline group during the procedure.

The purpose of this study is to examine the effect of blood contamination, heparin priming of the fine needle biopsies, and pass number on tumor tissue quality in fine needle biopsies.

The hypothesis for this study is that fine needle biopsy tissue quality of pancreatic masses decreases with increasing pass number due to blood contamination; this blood contamination can be ameliorated with priming of the needle with an anticoagulant such as heparin.

A total of 3 fine-needle biopsy passes will be performed on every procedure. The tissue specimens from each of the 3 passes will be collected in 3 separate jars of 10% formalin for tissue analysis. The use of heparin flushing vs. not heparin flushing will be based on their randomized group assignments.

In the heparin arm, between passes, after tissue is extracted from the needle, the needle will be flushed with 1 mL of heparin (100 USP/mL) and flushed with air before the next pass will be made. This means the needle will have no heparin during the first pass. In the standard of care arm, between passes, after tissue is extracted from the needle, the needle will be flushed with saline and/or air as per current standards of care.

This study was amended at the Institutional Review Board (IRB) after having enrolled only two participants. Following the amendment, the responsible party changed and with that change some adjustments were made to the interventions, analysis and some outcomes.

Eligibility Criteria:
Inclusion Criteria:

* Patient identified as having a possible solid pancreatic lesion on computed tomography or magnetic resonance
* Patient scheduled for Endoscopic ultrasound (EUS) for sampling of pancreatic mass

Exclusion Criteria:

* known history of coagulopathy
* history of heparin allergy
* patients with evidence of vascular tumors on imaging
* Patients with history of chronic pancreatitis
* Pregnant patients
* Medically unstable patients
Emotion and Symptom-Focused Engagement (EASE) for Caregivers

The goal of this Phase III randomized controlled trial is to evaluate the effectiveness of a novel psychotherapeutic intervention called Emotion and Symptom-focused Engagement (EASE) in parents caring for a child or adolescent with cancer. The main question it aims to answer is:

- Is EASE plus usual care associated with less severe traumatic stress symptoms over six months, measured by area under the curve, when compared to usual care alone in the parents of children diagnosed with cancer in the preceding six months?

For the primary outcome analysis, area under the curve will be calculated for each participant. The statistical significance of the difference between arms will also be evaluated. Participants in both groups will complete questionnaires package at enrolment, and 4, 8, and 12 weeks, and 6 months after enrolment. They will also be invited to participate in optional qualitative interviews to better understand their experience.


Eligibility Criteria:
Inclusion Criteria:

* Self-identified primary family caregiver/guardian (i.e., parent assuming the majority of care activities) of a child: i) \<18yo; ii) diagnosed with a new or relapsed life-threatening cancer within the preceding six months (disease-type eligibility per the Pediatric Oncology Group of Ontario Networked Information System); and iii) receiving active cancer therapy;
* Age ≥18 years; and,
* Able to complete outcome measures and engage in EASE in English, which need not be their first language.

Exclusion Criteria:

* Impairment in cognitive functioning or communication that would preclude participation in EASE sessions or outcome measure completion, as determined by the research team;
* Receiving formal ongoing psychotherapy at the time of recruitment;
* Active suicidal intention, based on an item in the Distress Assessment and Response Tool (DART) that has been widely used in suicidal intention screening in cancer; or,
* Child not expected to survive past the duration of trial, as determined by the child's medical team.