cyrilzakka/clinical-trials huggingface dataset:
Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy

The objective of this study is to determine the safety of once weekly dosing of idursulfase 0.5 mg/kg administered by intravenous (IV) infusion for male Hunter syndrome patients ≤ 5 years old.

This study will provide a basis for evaluating the safety of idursulfase administered to Hunter syndrome patients who are ≤ 5 years old. Additionally, this study will provide a basis for evaluating the idursulfase single- and repeated-dose pharmacokinetic profiles as well as the pharmacodynamic effect (as measured by urinary GAG excretion) in this pediatric population. Additional exploratory measures will include abdominal ultrasound measurements of liver and spleen volumes, assessments of growth with comparisons to normal population growth data, assessments of annualized growth velocity, assessments of routine developmental milestones using the Denver II, and assessments of clinical events, including the first occurrence of certain hearing-related events (e.g., hearing loss, otitis media), respiratory-related events (e.g., upper and lower respiratory infections), and specific surgical procedures (e.g., adenoidectomy, placement of PE tubes).

All patients in this open-label study will receive once-weekly infusions of idursulfase at a dose of 0.5 mg/kg.

Eligibility Criteria:
Inclusion Criteria:

* The patient has a diagnosis of Hunter syndrome based upon biochemical criteria either documented in their medical history or established at Screening:

  1. A deficiency in iduronate-2-sulfatase (I2S) enzyme activity of ≤ 10 % of the lower limit of the normal range as measured in plasma, fibroblasts, or leukocytes (based on normal range of measuring laboratory)

     AND
  2. A normal enzyme activity level of one other sulfatase as measured in plasma, fibroblasts, or leukocytes (based on normal range of measuring laboratory).
* The patient is 5 years of age and under.
* The patient is male.
* The patient's parent(s), or patient's legal guardian must have voluntarily signed an Institutional Review Board approved informed consent form after all relevant aspects of the study have been explained and discussed with the patient's parent(s), or the patient's legal guardian.

Exclusion Criteria:

* The patient has received treatment with another investigational therapy within 30 days prior to enrollment.
* The patient has clinically relevant medical condition(s) making implementation of the protocol difficult.
* The patient has previously received idursulfase.
* The patient has known hypersensitivity to any of the components of idursulfase.
* The patient has had a tracheostomy.
Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome

OBJECTIVES: I. Examine the concentration of docosahexanoic acid (DHA) and other n-3 fatty acids in plasma, erythrocyte, and adipose tissue in patients with various forms of retinitis pigmentosa and Usher syndrome.

II. Determine the synthesis and catabolism of DHA from linolenic acid in these patients.

III. Determine the synthesis, absorption, and catabolism of DHA under different dietary conditions in these patients.

PROTOCOL OUTLINE: Patients may participate in one or more of the arms of this study.

Arm I (adipose tissue study): Adipose tissue is collected from the buttocks of patients with Usher II retinitis pigmentosa (RP), patients with non-Usher RP, and control subjects. Dietary histories are obtained from all patients and subjects.

Arm II (isotope study): Patients meeting the same criteria as in arm I receive oral D5-labeled linolenic acid and oral D4-labeled linolenic acid that is dissolved in oil and incorporated into foods. Subjects must avoid eating fish and shellfish during the 35 days of the isotope study. Blood samples are collected at 0, 8, 24, and 48 hours, daily on days 3-7, and then on days 10, 18, and 35.

Arm III (flaxseed oil feeding): Patients with all types of RP and control subjects receive flaxseed oil, a form of linolenic acid, for 12 weeks. Subjects may also receive high oleic safflower oil or olive oil as a control fat for 12 weeks. Subjects complete a diet history at the end of each fatty acid supplementation period. All subjects must follow a diet free of seafood and fish oil supplements.

Eligibility Criteria:
PROTOCOL ENTRY CRITERIA:

* Retinitis pigmentosa, including: Usher syndrome (types I and II) Simplex
* The following inheritance patterns eligible: X-linked recessive; Autosomal dominant; Autosomal recessive
FMT for Steroid Resistant Gut Acute GVHD

The study aims to evaluate the safety and efficacy of fecal microbiota transplantation (FMT) for the treatment of steroid resistant graft-versus-host-disease (GVHD) of the gut. This strategy might offer a safe and effective therapeutic approach for these patients with a poor prognosis and limited therapeutic options.

Graft-versus-host-disease (GVHD) is a major complication after hematopoietic stem cell transplantation (HSCT). Gut is the most vulnerable target organ of acute GVHD. Patients who develope the acute gut GVHD and do not respond to the first line therapy with steroids have a high mortality. The investigation of safe and effective second line therapy for these patients are in need. The study evaluates safety and efficacy of fecal microbiota transplantation (FMT) for the treatment of streoid resistant GVHD of the gut. Stool for FMT will be prepared from the healthy donor.This strategy might offer a safe and effective therapeutic approach for these acute steroid resistant gut GVHD patients.

Eligibility Criteria:
Inclusion Criteria:

* 1. Adults(ages are elder than 18 years and younger than 75 years) who developed gut acute Graft-versus-Host Disease(aGVHD) after allogeneic hematopoietic stem cell transplantation(HSCT) and were resistant to a first line therapy with steroids.

  2. patients who were diagnosed as Stage 3 or 4 Gastro-intestinal Acute Graft-versus-Host(GI-aGVHD) with the symptoms such as diarrhea or abdominal pain.

  3. Participants who accepted the FMT treatment. 4. Signature of informed and written consent by the subject.

Exclusion Criteria:

* 1. patients who were diagnosed as Stage 1 or 2 Gastro-intestinal Acute Graft-versus-Host(GI-aGVHD) 2. patients with unstable vital signs or severe cardiac and pulmonary disorder. 3. patients who were failure to cooperate endoscopy examination. 4. patients who were younger than 18 years or pregnant. 5. patients who were poor compliance to FMT treatment. 6. patients who were not able to give informed consent.
Comparative Efficacy and Safety Study in Patients With Ulcerative Colitis in Remission Phase

To demonstrate that import Mesalazine (ASACOL®) is non-inferior to the reference drug, marketed Mesalazine, regarding the primary endpoint (rate of non-emergence of bloody stool), in patients with Ulcerative Colitis in remission, treated for 48 weeks.


Eligibility Criteria:
Inclusion Criteria:

* Patients with ulcerative colitis in remission who are defined to show an Ulcerative Colitis-Disease Activity Index (UC-DAI) score of 2 or less and a bloody stool score of 0.

Exclusion Criteria:

* Patients who take adrenal corticosteroid (oral formulation, enemas, suppository, agents for hemorrhoidal disease, injectable solution) within 14 days before start of administration of clinical study drug.
Micafungin Versus Fluconazole for Prevention of Invasive Fungal Disease in Living Donor Liver Transplant Recipients

The purpose of this study is to demonstrate non-inferiority of micafungin at a dose of 100 mg/day versus fluconzeole for the prevention of Invasive Fungal Disease, defined according to the revised EORTC/MSG criteria, undergoing living-donor liver transplantation.

This is Randomized, Open label, Non-inferiority Study of Micafungin versus Fluconazole for the Korean Prevention of Invasive Fungal Disease in Living Donor Liver Transplant Recipients

After transplant subjects will be randomized to one of the following treatment arms:

* Micafungin 100 mg/day intravenous (2.0 mg/kg/day in subjects weighing \<40 kg)
* Fluconazole 100\~200mg/day, IV care until oral medication becomes possible

Stratification according to centers. Antifungal prophylaxis will be administered once daily for a period of 21 days, or until hospital discharge, whichever occurs first.

This is an open label study; Study center personnel will not be blinded to treatment.

Eligibility Criteria:
Inclusion Criteria:

* Age \> 20 years.
* Undergoing Living Donor Liver Transplantation(LDLT)

Exclusion Criteria:

* Any systemic antifungal therapy (excluding fluconazole or SDD for a maximum of 7 days) within 14 days prior to randomization.
* Evidence of documented ('proven' or 'probable') or suspected ('possible') IFD (according to the EORTC/MSG criteria).
* Allergy, hypersensitivity, or any serious reaction to an echinocandin antifungal, or any of the study drugs or their excipients.
* Reimplantation or orthotopic transplantation patient.
Soft Tissue Volume Changes in Posterior Socket Sealing Abutment.

The aim is to clinically evaluate the effect of the alveolar sealing technique using a customised abutment on soft tissue volume changes following molar extraction and immediate dental implant placement.

A sample of 20 patients in ASAI health status who agree to be involved in the study after giving their consent and who require immediate post-extraction implant treatment in the molar area will be recruited.

The soft tissue status before and 6 months after tooth extraction will be recorded by means of a digital impression taken with the same intraoral scanner.

The patient will be asked to complete a 7-question questionnaire to inform us about his or her perception of the therapeutic process and the final result.

A comparative volume measurement will be made by digitally superimposing the two mesh files obtained before and 6 months after the treatment.

Statistical data will be analysed by an external statistician and conclusions will be drawn about the effect of the technique on soft tissue volume as well as the patient's perception of the procedure and its outcome.

Eligibility Criteria:
Inclusion Criteria:

* Patients ASA I
* Need for molar postextraction immediate implant

Exclusion Criteria:

* When the cortical bone is affected and the alveolus presents bone deficiencies
* When dental implant may not be placed due to medical conditions
Attaining and Maintaining Wellness in Obsessive-compulsive Disorder

The goal of this study is to understand whether patients with obsessive-compulsive disorder (OCD) on serotonin reuptake inhibitors (SRIs) who receive a type of Cognitive-behavioral therapy called Exposure and Ritual Prevention (EX/RP) can discontinue their medication if they first do well with EX/RP.

This study begins with a Preparatory Phase, wherein all eligible participants receive up to 25 sessions of Exposure and Ritual Prevention (EX/RP) therapy. At the end of the Preparatory Phase, those who have achieved wellness (mild to minimal symptoms) enter the Study Phase. Those who do not achieve wellness will not continue in the study and are referred for treatment elsewhere. Those who enter the Study Phase are then assigned by chance to one of two groups. One group will continue on the SRI medication and the other group will discontinue the SRI gradually over 4-6 weeks as it is replaced with a placebo (sugar pill). Neither patients nor study staff will know which group a participant is in. Both groups will continue to receive monthly sessions of EX/RP. The study will examine who has the best response to treatment in this study, including taking blood samples for genetic testing to see whether there are genes that can predict who will or will not benefit from EX/RP.

Eligibility Criteria:
Preparatory Phase

Inclusion Criteria:

* Primary diagnosis of OCD
* Currently on a stable and adequate dose of a serotonin reuptake inhibitor (i.e., clomipramine, fluoxetine, fluvoxamine, sertraline, paroxetine, citalopram, escitalopram) but still have clinically significant OCD symptoms

Exclusion Criteria:

* Comorbid Psychiatric conditions that significantly elevate the risks of study participation (e.g. psychotic disorders, bipolar disorder, evidence of dementia or other cognitive disorder, suicidality)
* Unstable medical conditions that need attention and would make participation in the study unsafe (e.g., very high blood pressure)
* Patients who have already had prior adjunctive EX/RP (more than 8 sessions within 2 months) while receiving an adequate SRI trial
* Patients taking other medications besides an SRI (e.g. antipsychotics, mood stabilizers, other antidepressants besides SRIs)
* Patients who are pregnant, sexually active and not using contraception, or nursing

Study Phase

Inclusion Criteria:

* Those who achieve mild to minimum OCD symptoms from Preparatory Phase will enter the Study Phase

Exclusion Criteria:

* All exclusions listed above for Preparatory Phase are exclusions for Study Phase as well
* Patients who are depressed at the end of the Preparatory phase are excluded from Study Phase
Efficacy of Kerecis Omega 3 in Comparison to Clinical Standard Procedures

Chronic leg ulcerations are a great burden for patients and the medical system alike. Frequent outpatient consultations with associated treatment costs and travel costs for the patient as well as psychosocial burdens remain an unmet problem in chronic wound care. There is an increasing need for definitive treatment of especially chronic venous and multifactorial chronic leg ulceration where arterial intervention is not a treatment option.

Minimal invasive surgical interventions that do not require skin grafting can be performed under local anesthesia in an outpatient setting even in multimorbid patients.

Kerecis Omega3 Wound is intact decellularized fish skin. The fish skin sheets contain fat, protein, elastin, glycans and other natural skin elements and it can be an effective treatment option in chronic leg ulcerations and is licensed for this use as a medical product in Switzerland. However, limited data without inter-wound bias is available for the use of Kerecis Omega 3 in chronic leg ulcerations.

In this study the investigators propose to investigate the efficacy of Kerecis Omega 3 according to objective wound surface measurements using standardized digital photographs in patients with chronic leg ulcerations. Efficacy will be evaluated against standard of care wound debridement.


Eligibility Criteria:
Inclusion Criteria:

* Any chronic leg ulcer \> 4 weeks duration with delayed wound healing (reduction of wound surface of less than 40-50% within 4 weeks under adequate local therapy) without underlying treatable medical conditions
* Ulcer area at between 5cm2 and 60cm2
* Bacterial swab sampling prior to study
* Written study informed consent

Exclusion Criteria:

* History of Fish allergy or proven Fish allergy
* Pregnant or breast-feeding women
* Intention to become pregnant during the course of the study
* Wound not suitable for dressing: inflammation, fibrin coatings
* Inability to understand the study consent
An In-home Observational Study to Compare Infant Crying and Fussing Parameters Documented by the LENA Recorder With Those Documented Via Parental E-diaries

This is a in-home observational study of 12 healthy term infants of ≤15 weeks of age to compare infant crying and fussing parameters documented by the LENA recorder with those documented via parental e-diaries


Eligibility Criteria:
Inclusion Criteria:

* Healthy term infants, age ≤15 weeks
* Singleton infants (≥37 and ≤42 weeks gestation)
* Birth weight within normal range for gender and gestational age
* Informed consent from parent or legal guardian whose age is ≥18 years old
* Live in a household with reliable electronic communication capability (e.g. smart phone, computer, internet access)
* Infants who are breastfed and/or are consuming any commercial infant formula as a major nutrient source
* Parent's/guardian's English literacy sufficient to follow instructions and complete forms

Exclusion Criteria:

Infants:

* Currently or within last 30 days prior to screening, participation in any other investigational studies
* Known to have current or previous illness/condition which could interfere with the study outcome, as per Investigator's clinical judgment

Parents/Guardians of infants:

* Known to have a significant medical condition (including during pregnancy) that might interfere with the study, as per Investigator's clinical judgment
* Inability to comply with study protocol, as per the Investigator's judgement
EXOME SEQUENCING IN MEDULLARY SPONGE KIDNEY

Medullary sponge kidney is a rare, underdiagnosed renal pathology, characterized by precalyceal dilatation of the renal tubes associated with active and recurrent stone disease with nephrocalcinosis, hypercalciuria and tubular dysfunction with, for example, acidification and urinary concentration defects.

The pathophysiology is poorly understood The prevalence and etiopathogenesis of the disease is not known Medullary sponge kidney is often characterized as a congenital pathology with delayed expression due to reported cases occurring in early childhood and associations with other congenital renal and extra-renal malformative pathologies, such as Wilms tumors, horseshoe kidney, contralateral renal hypoplasia, Beckwith-Wiedemann syndrome, Caroli disease, or congenital hepatic fibrosis, for example. However, no clear demonstration of the congenital nature has been established so far, and it is considered a sporadic disease.

However familial cases have been reported with an autosomal dominant mode.

The pathophysiology may involve disruptions in renal organogenesis, which depends on reciprocal inductive interactions necessary to coordinate nephrogenesis between the ureteric bud and the metanephric blastema during the 5th week of embryonic development. Some authors suggested that the GDNF and RET genes may be involved in the physiopathology of the disease.

For instance 12% of heterozygous patients for rare GDNF variants were identified in an Italian cohort of 57 medullary sponge kidney patients.

Other genes have been suggested to be involved in the pathophysiology based on reported cases, with no direct relationship demonstrated and their role remain putative Medullary sponge kidney disease is a debilitating condition, with the main symptoms being recurrent kidney stones and urinary infections.

Additional data are needed to determine the involvement of genetic anomalies in the pathophysiology of the condition.

The aim of the study is to describe the genetic variants identified with exome sequencing in medullary sponge kidney patients, in order to optimize management, especially for familial forms, and therapeutic interventions.


Eligibility Criteria:
Inclusion Criteria:

* medullary sponge kidney attending medical consultation
* consent signed
* affiliated to social insurance scheme

Exclusion Criteria:

* legal protection measure (guardianship, curatorship)
* Deprived of liberty by a judicial or administrative decision
* subject participating in another research including an exclusion period still in progress at inclusion
Olezarsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS)

The purpose of the Expanded Access Program is to provide pre-approval access of olezarsen to eligible patients with Familial Chylomicronemia Syndrome (FCS).

The Expanded Access Program (EAP) is intended to provide pre-approval access to olezarsen for eligible patients with FCS who have limited or no available treatment options. This program is open in the United States and operates under the individual patient (also referred to as single patient) IND expanded access route in which the patient's treating physician serves as the sponsor. Expanded access requests must be from the patient's treating physicians and submitted according to the instructions at https://www.ionispharma.com/patients/expanded-access-policy/

Eligibility Criteria:
Inclusion Criteria:

* Has a diagnosis of FCS as determined by the sponsoring physician. Ionis will review each application to determine eligibility based on documentation of validated genetic or clinical diagnosis.

  o Documented loss of function mutations (homozygous, compound / double heterozygous) in genes such as LPL, GPIHBP1, APOA5, APOC2 or LMF1) or clinically validated diagnosis of FCS.
* Resides in and is a resident of the United States.
* Willing to follow a diet comprising ≤20 g fat per day.

Exclusion Criteria:

* Has any new or worsening of existing conditions which, in the opinion of the physician, would make the patient unsuitable for treatment with olezarsen.
* Olezarsen naïve patients with baseline platelet count \<100x109/L at qualification.
* Estimated GFR (eGFR) \<30 mL/min/1.73 m2.
* Secondary factors are the cause of triglyceride elevations.
* Is currently hospitalized in an acute emergency setting.
A Comparative, Randomized, Prospective, Performance Evaluation of Abutments in Single Tooth Gaps

Immunologically evaluation of myeloperoxidase level as indicator for inflammatory reactions on modified surface abutments compared to machined surface abutments.

One study abutment per patient will be placed. After healing for 6 to 7 weeks, patients will be asked to stop oral hygiene at the study site for 2 weeks.

Sulcus fluid and plaque samples will be taken at the abutment site at several visits before and during abdication of oral hygiene.

The study finishes with biopsy visit. Afterwards a regular abutment will be placed and the patients will be treated according to the standard protocol of the clinic to obtain their final restoration

Eligibility Criteria:
Inclusion Criteria:

* Subjects must have voluntary signed the informed consent form before any study related action.
* Males and females with at least 18 years of age
* Non-smokers
* Straumann bone level implant (healed for at least 4 weeks) in a tooth gap in the maxilla or mandible with thick tissue biotype
* Adequate oral hygiene (Full mouth plaque index; O'Leary, et al. 1972) \<25% at abutment placement
* The patient must be able to open the mouth to allow removal of the abutment at the planned abutment site

Exclusion Criteria:

* Systemic disease that would interfere with dental implant therapy (e.g. uncontrolled diabetes)
* Any antibiotic treatment or anti-inflammatory treatment within the past 2 month
* Any contraindications for oral surgical procedures
* Mucosal diseases (e.g. lichen planus, mouth ulcer)
* History of local irradiation therapy
* Current treated (within the last 12 month) or untreated periodontitis
* Current treated (within the last 6 month) or untreated gingivitis
* Probing pocket depth of ≥4 mm on one of the teeth immediately adjacent to the dental implant site
* Severe bruxing or clenching habits
* Lack of primary stability of the implant at abutment placement
* Subjects who have undergone administration of any investigational device within 30 days of enrolment in the study
* Conditions or circumstances, in the opinion of the investigator, which would prevent completion of study participation or interfere with analysis of study results, such as history of non-compliance or unreliability
* Physical or mental handicaps that would interfere with the ability to follow protocol procedures
* Pregnant or breastfeeding wome
* Insufficient soft tissue attachment to the neck of the abutment (e.g. visibility of the abutment platform or exposed ESTAnsurface) after abutment placement