cyrilzakka/clinical-trials huggingface dataset:
Study of Glycogen Storage Disease and Associated Disorders

Glycogen, is the storage form of glucose. It is usually formed from sugar and stored in the liver. When tissues, such as muscle, need glucose for fuel the stored glycogen is converted into glucose with the help of enzymes produced in the body. Glycogen storage disease (GSD) refers to a group of conditions characterized by abnormal storage of glycogen due to the absence of particular enzymes needed in the process of storing and using glycogen.

This study addresses the related metabolic abnormalities of glycogen storage disease (GSD). As patients with disorders of glycogen metabolism are followed it becomes apparent that the condition is much more complex than initially thought.

Researchers believe that patients suffering from glycogen storage disorders should be followed and monitored for other heritable metabolic disorders.

This study will attempt to determine the frequency of associated disorders in patients with GSD. In addition, the study will look at the current management of these patients to see if the prognosis and course of the disease is changed.

This study addresses the related metabolic abnormalities of the glycogeneses. As more older individuals with glycogen storage disease are followed and studied, it becomes apparent that when individuals with glycogenosis are viewed from a longitudinal perspective, the condition is much more complex and diverse in its related conditions than one would have reason to believe, even in hindsight. It is relevant to follow these individuals, searching for abnormalities not only with glycogen storage disease in mind, but also because other heritable metabolic disorders, including cystinosis and cystic fibrosis, reflect the accumulation of associated disorders with age which often have no apparent direct association with GSD.

Eligibility Criteria:
Patients age 20 or older, male or female.
A Phase 2 Multicenter Randomized Clinical Trial of CNTF for MacTel

This study is a phase 2, randomized, multi-center, single-masked study to evaluate the efficacy and safety of the NT-501 implants in participants with Mactel.


Eligibility Criteria:
Inclusion Criteria:

* Participant must be offered sufficient opportunity to review and to understand the informed consent form, agree to the form's contents and sign the protocol's informed consent
* Participant must have at least one study eye with a positive diagnosis of MacTel Type 2
* Participant must have an IS/OS PR break in the study eye(s) and en face ellipsoid zone (area of IS/OS loss) as measured by SDOCT between 0.16 mm2 and 4.00 mm2
* If female, participant must be incapable of pregnancy
* If male, participant must agree to use an effective form of birth control during the study

Exclusion Criteria:

* Participant is unable to provide informed consent
* Participant is less than 21 years of age or greater than 80 years of age
* Participant is medically unable to comply with study procedures or follow-up visits
* Participant was a study subject in any other clinical trial of an intervention (drug or device) within the last 6 months
* Participant is pregnant or breastfeeding
PaTH Clinical Data Research Network (CDRN) Idiopathic Pulmonary Fibrosis (IPF) Clinician Patient Partnership Cohort

The purpose of the PaTH Network IPF Clinician-Patient Partnership Cohort is to use clinical data from electronic health records (EHR) and patient reported outcomes (PRO) to answer questions of clinical importance to patients with Idiopathic Pulmonary Fibrosis, providers, and other stakeholders.

The primary objective is to create the PaTH Network IPF Clinician-Patient Partnership Cohort, which will allow the conduct of patient-centered observational studies on IPF across the multiple institutions (Hershey Penn State, University of Pittsburgh, Temple University) of the PaTH network. Creating the IPF Clinician-Patient Partnership Cohort will involve:

1. Recruiting patients with IPF to participate in the PaTH Network IPF Clinician-Patient Partnership Cohort
2. Administering surveys to the IPF Clinician-Patient Partnership Cohort approximately every 3 months to collect patient reported outcomes (PROs)
3. Merging individual patient health record data into the IPF Clinician-Patient Partnership Cohort database
4. Tracking whether the patient participant has biospecimens in a PaTH site biorepository and prepare for possible sharing of biospecimens in future studies.
5. Determining if an automated procedure for identifying duplicate patients across PaTH institutions without the use of protected health information (PHI) is valid compared to a manual matching procedure using PHI.
6. Identifying potential participants for future research studies.

The secondary objectives are to use the PaTH Network IPF Clinician-Patient Partnership Cohort to answer patient-centered research questions including:

1. What is the prevalence of gastroesophageal reflux disease (GERD) in IPF, and what effect does GERD and its treatment have on IPF disease progression, quality of life, and survival?
2. What is the association of oxygen use with survival, quality of life, exercise tolerance, neurocognitive function, and dyspnea?
3. How often do IPF patients have advance directives, how often are advance directives documented in the electronic health record, and does having an advance directive influence how/where IPF patients die, their health care utilization, satisfaction with care, and quality of life?

Eligibility Criteria:
Inclusion Criteria:

* The target study population is adults identified as having IPF (through the PaTH IPF computable phenotype algorithm or a local IPF registry).

Exclusion Criteria:

* Age \<18 years
* Deceased
* Not proficient in English
* Has not had at least one outpatient encounter in the past 18 months at the PaTH health system's pulmonary specialty clinic through which they are recruited
* Lung transplant
* Already enrolled in the PaTH Clinician-Patient Partnership Cohort at another PaTH institution
Tinnitus Treatment With Cochlear Implant in Single Sided Deafness

Recent studies have reported successful reduction of tinnitus after cochlear implantation (CI) in most CI users, but the mechanisms of reduction and the amount of improvement is not fully understood. Especially, the relative role of peripheral and central auditory pathways is not clearly known. This study assessed the effect of CI electrical stimulation on tinnitus in subjects with unilateral tinnitus related to a single-sided deafness (SSD), and relative contributions of peripheral and central auditory pathways in tinnitus reduction.

Introduction: Continuous surgical, technological and audiological advances are responsible for the ever improvement of outcomes obtained through cochlear implants (CI) over the last decades. These positive observations have progressively led to the cautious extension of CI indications including patients with single-sided deafness (SSD). SSD patients are characterized by the loss of functional hearing in one ear, causing an impairment of binaural hearing abilities, with important difficulties for sound localization and speech in noise comprehension. These patients also often present invalidating tinnitus in the deaf ear, worsening both their psychological and audiological conditions. Recent studies have reported successful reduction of tinnitus intensity after cochlear implantation. However, most studies included a very limited number of participants and tinnitus evaluation tools. The impact of CI speech perception abilities in SSD is still under debate.

Objective: This study aims to assess the effect of CI electrical stimulation on tinnitus, speech-in-noise and speech-in-quiet abilities in a group of 30 SSD patients.

Methods: After cochlear implantation, patients are stimulated using continuous white noise stimulation in the first month period and thereafter using a conventional stimulation. This was done to investigate the effects of non-meaningful, and therefore only peripheral, stimulation. Outcomes were monitored at 1, 3, 6 and 12 months of CI use. Tinnitus loudness and annoyance were measured with a Visual Analog Scale and tinnitus distress and quality of life were evaluated with tinnitus questionnaires (THI, TRQ and STSS). Speech in noise comprehension was assessed in three different spatial listening configurations and speech in quiet was evaluated through direct connection with the speech processor.

Eligibility Criteria:
Inclusion Criteria:

* Age over 18
* Profound to total single sided deafness with associated tinnitus
* Normal or near-normal hearing on contralateral ear
* Tinnitus evaluated by THI ≥ 58 and VAS on annoyance ≥8
* Failure of usual tinnitus treatments
* Duration of tinnitus between 1 and 15 years
* Normal vestibular function of contralateral ear
* Native of fluent French speaker

Exclusion Criteria:

* No Social security affiliation
* Retrocochlear pathology (vestibular schwannoma, severe central auditory processing disorder)
* Cochlear ossification
* Middle ear pathology
* Tinnitus not related to deafness
* Depression with BDI (Beck Depression Inventory) \> 16 or unfavorable advice from psychologist/ psychiatrist
Early Diagnosis and Stem Cell Transplantation for Severe Immunodeficiency Diseases

The hypothesis of this study is that children with severe primary immunodeficiencies will benefit from early stem cell transplantation utilizing a reduced intensity conditioning regimen. This regimen is associated with a low risk of complications and will lead to correction of the underlying immunological defects.


Eligibility Criteria:
Inclusion Criteria:

* Must show one of the following diseases:

  * SCIDS
  * Hyper-IgM
  * Wiskott-Aldrich Syndrome
  * Chediak-Higashi and Griscelli Syndromes
  * X-Linked Lymphoproliferative Diseases
  * IPEX Syndrome
  * NEMO Syndrome
  * other severe immunodeficiency diseases not stated above at the discretion of the Principal Investigator
* Informed Consent
* Adequate Renal Function
* Adequate Liver Function
* Adequate Cardiac Function
* Adequate Pulmonary Function
* Adequate Performance Statue
* Adequate Venous Access

Exclusion Criteria:

* Patient/Family has not signed informed consent
* Patient does not have a clear diagnosis of a severe immunodeficiency disease
* A suitable donor for the patient cannot be found
* Patient is HIV positive
* Patient has active Hepatitis B
* Patient is pregnant
* Patient is considered unsuitable for transplant at the discretion of the Principal Investigators or the medical director
Myeloid Derived Suppressor Cells and Chronic Myeloid Leukemia

The suppression of the immune system creates a permissive environment for development and progression of cancer. One population of immunosuppressive cells that have become the focus of intense study is myeloid derived suppressor cells , immature myeloid cells able to induce immune-escape, angiogenesis, and tumor progression. Two different subpopulations have been identified and studied: granulocytic and monocytic myeloid derived suppressor cells with a different immunophenotype and immunosuppressive properties

Myeloid-derived suppressor cells utilize different mechanisms to block both innate and adaptive arms of anti-tumour immunity, mostly through inhibition of T cell activation and expansion . Human monocytic myeloid derived suppressor cells are mostly identified as CD14+ cells with negative or low expression of HLADR. And also express high levels of CD11b and CD33 antigen . Human granulocytic myeloid derived suppressor cells are usually defined as CD66b+ CD11b+ CD15+ HLADR- cells and display an intermediate expression of CD33 and a variable expression of CD11b, depending on their maturation stage .

Chronic myeloid leukemia (CML) is a hematological cancer, characterized by a reciprocal chromosomal translocation between chromosomes 9 and 22 \[t(9;22)\], producing the Bcr-Abl oncogene. Tyrosine kinase inhibitors represent the standard of care for CML patients and exert a dual mode of action: direct oncokinase inhibition and restoration of effector-mediated immune surveillance, which is rendered dysfunctional in CML patients at diagnosis, prior to TKI therapy. TKIs such as imatinib, and more potent second-generation nilotinib and dasatinib induce a high rate of deep molecular response (DMR, BCR-ABL1 ≤ 0.01%) in CML patients. As a result, the more recent goal of therapy in CML treatment is to induce a durable deep molecular response as a prelude to successful treatment-free remission .

Accumulation of both Gr-MDSCs and Mo-MDSCs cells has been found in the peripheral blood of chronic myeloid leukemia (CML) patients. They are part of the tumor clone showing BCR/ABL expression.

BCR-ABL tyrosine kinase inhibitors (TKI) are able to induce remission in CML patients but not to eliminate leukemia stem cells , which can regenerate leukemia on drug discontinuation .

Unfortunately, molecular relapse is observed after cessation of tyrosine kinase inhibitors in 61-66% of CML patients, previously in complete molecular response (presumably due to the reactivation of dormant CML LSCs that are resistant to TKI-induced leukemic cell ablation. Thus, current research efforts aim to develop additional therapies to target these TKI-refractory CML LSCs .

With the aim of increasing cure rates and make it possible for patients to discontinue treatment, TKI therapies are currently evaluated in combination with immune modulators .

Eligibility Criteria:
Inclusion Criteria:

* All newly diagnosed chronic phase CML patients during one year in Assiut university hospital.

Exclusion Criteria:

* Preivously diagnosed CML patients .
* Other myeloproliferative disorders .
Metabolic Support With Perhexiline to Protect Myocardium Undergoing Coronary Artery Surgery

Open-heart surgery causes injury of the heart muscle. Although this is usually mild, temporary and reversible, if it is severe it can endanger life and require additional high cost care. During surgery, techniques are used to protect the heart from injury, but these remain imperfect. This study assesses the effect of facilitating sugar metabolism (a more efficient fuel) by the heart muscle using the drug Perhexiline given before the operation. This treatment has a sound experimental basis for improving outcome. If this improvement is confirmed surgical results could be improved. The investigators will be studying heart function, heart muscle energy stores and chemicals which quantify the amount of heart muscle injury. The investigators' hypothesis is that Perhexiline will improve the protection of the heart by decreasing damage that may occur during heart surgery.


Eligibility Criteria:
Inclusion Criteria:

* Adult
* First-time
* Isolated coronary artery bypass surgery

Exclusion Criteria:

* Diabetes Mellitus
* Renal impairment with Creatinine greater than or equal to 200micromol/L
* Atrial fibrillation
* Amiodarone therapy, recent (in last month) or current
* Hepatic impairment, significant preoperative
* Peripheral neuropathy
* Pregnancy or breast-feeding
* Emergency surgery or required on clinical grounds within 5 days of referral
Improving Nutritional Adequacy of ICU Survivors in a Prospective Interventional Way: the Bright Side Study

The objective is to increase caloric adequacy in patients who survived critical illness and are admitted to the ward by the use of a pro-active inclusive nutritional strategy including supplemental parenteral and/or enteral nutrition and/or oral nutritional supplements guided by indirect calorimetry.

This enables the investigators to address, within a clinical/scientific context, a recently demonstrated but until now relatively neglected 'dark side' of patient care at UZ Brussel, comparable to limited global evidence : iatrogenic malnutrition of ICU survivors. The use of a newly developed clinical pathway and nutrition strategy (oral, enteral and parenteral) led by a single SPoC (Single Point of Contact) for patients surviving intensive care will have a clear objective: to address the nutritional deficit in all patients.


Eligibility Criteria:
Inclusion Criteria:

* Adult ≥ 18 years
* ICU stay ≥ 7 days
* Ward stay ≥ 3 days
* Nutritional therapy not restricted
* Heterogeneous diseases

Exclusion Criteria:

* Patients \< 18 years
* ICU \< 7 days
* Ward stay \< 3 days
* Advanced Care Planning with impact on nutritional therapy
* Patients with palliative care
* Metabolic derangements such as metabolic diseases
* Pregnancy
Incidence of Patellar Crepitus in Removal and Non-removal of Fibrosynovial Tissue at Superior Pole of Patella

The purpose of this study is to compare the incidence of patellar crepitus complication and the clinical outcome between remove and not remove fibrosynovial tissue at the border of the superior pole of the patellar in posterior stabilized total knee arthroplasty.


Eligibility Criteria:
Inclusion Criteria:

* Primary osteoarthritis of knee who were scheduled for a primary total knee arthroplasty

Exclusion Criteria:

* Valgus deformity
* History of inflammatory arthroplathy
* Previous fracture or open surgery on the same knee
* History of patellar instability
Satisfaction/Quality of Life With Rivaroxaban in DVT (Deep Venous Thrombosis) Indication

National, multicenter, prospective, observational, non-interventional study. The objective is to determine if the switch from Vitamin K antagonists (VKA) to Xarelto in subjects treated with VKA with issues in deep venous thrombosis (DVT), and prevention of recurrent DVT and pulmonary embolism (PE) is associated with an improvement of the treatment satisfaction after 3 months. The treatment satisfaction will be measured by the Anti Clot Treatment Scale (ACTS) score.


Eligibility Criteria:
Inclusion Criteria:

* Female or male subject ≥ 18 years of age,
* With a diagnosis of acute DVT treated with VKA with issues for at least the 4 previous weeks (issues are assessed on medical judgment)
* Who intends to start rivaroxaban for treatment of deep vein thrombosis (DVT), and prevention of recurrent DVT and pulmonary embolism (PE) following an acute DVT
* With anticoagulation therapy planned for at least 3 months

Exclusion Criteria:

* Contra indication to the use of Xarelto as described in the Summary of Product Characteristics (SmPC); key contra indications are:

  * Hypersensitivity to the active substance or to any of the excipients listed in SmPC section 6.1.
  * Lesion or condition at significant risk of major bleeding
  * Concomitant treatment with any other anticoagulant agent
  * Clinically significant active bleeding
  * Hepatic disease associated with coagulopathy and clinically relevant bleeding risk including cirrhotic patients with Child Pugh B and C
  * Pregnancy and breast feeding
Suture of UTerus and Ultrasound Repair Evaluation

This study compares three techniques of uterine closure on myometrium thickness evaluated by ultrasound six months after the primary cesarean. The three techniques include: 1) locked single layer closure; 2) double layer closure with a first continuous locked suture and a second imbricating continuous suture; 3) double layer closure with a first continuous unlocked suture of the deep portion of the myometrium avoiding the inclusion of the decidua and a second unlocked continuous suture that approximate the upper portion of the myometrium. The primary outcome is the mean myometrium thickness at the site of the uterine scar evaluated by transvaginal ultrasound at six months after cesarean.


Eligibility Criteria:
Inclusion Criteria:

* Planned cesarean
* Primary cesarean
* ≥ 38 gestational weeks

Exclusion Criteria:

* Previous cesarean
* Women \< 18 years old
* Multiple gestation
* Mullerian anomalies
* Active labor
* Diabetes
* BMI \>35 kg/m2
* Placenta praevia
* Chronic systemic disease
A Randomized, Double-blind, Placebo-controlled Study of ZSP1601 in Adult Subjects With Nonalcoholic Steatohepatitis (NASH)

The purpose of this research is to evaluate the efficacy and the safety of two doses of ZSP1601 for 48 weeks versus placebo in adult NASH patients.


Eligibility Criteria:
Inclusion Criteria:

1. NASH histological diagnosis on a liver biopsy performed ≤ 24 weeks before randomization, and NAS≥4 (at least 1 point each in inflammation and ballooning), and fibrosis score F2 or F3, and no other chronic liver disease
2. Subjects having given her/his written informed consent
3. Good compliance with the protocol and agree to have liver biopsy performed
4. Subjects (including their partners) agreed to use effective contraception throughout the study period and up to 24 weeks after discontinuation

Exclusion Criteria:

1. History of cirrhosis or liver biopsy suggestive of cirrhosis
2. Metabolic surgery or new technology treatment for weight loss within 5 years prior to randomization or planned during the study period
3. Type 1 diabetes
4. HIV infection
5. Patients with severe or uncontrollable underlying diseases, unsuitable for treatment with ZSP1601, unable to complete study follow-up, or likely to affect the evaluation of trial results judged by investigator
6. Previous malignancy within 5 years
7. Treatment with hepatoprotective drugs
8. Excessive alcohol consumption for 12 or more consecutive weeks within 1 year prior to screening
9. Pregnant and lactating women or those with a positive serum pregnancy test.
Study of Biomarkers of the Response to Biotine

Biotine is proposed by neurologists to patients with a progressive form of Multiple sclerosis (MS) in the context of a nominative temporary authorization for use (TAU) as a disease-modifying treatment for their MS. A recent study showed that with this treatment, more patients experienced an improvement after one year in comparison with patients given a placebo.

The objective of this study is to identify blood biomarkers to determine good responders as early as possible. In addition, the blood parameters studied will make it possible to better understand the mechanisms of action, that have a beneficial effect on multiple sclerosis.

The management of patients will not be modified: same number of consultations (at the prescription, at 3 months, at 12 months), same clinical examination, and the same number of blood samples (at the prescription, at 3 months, and at 12 months).


Eligibility Criteria:
Inclusion Criteria:

* 18 to 65 years old
* inactive progressive form of MS according to the Lublin classification and recorded in the Burgundy EDMUS database
* Patients with health insurance cover
* Patients who have provided written informed consent (OFSEP)

Exclusion Criteria:

* Patients unable to understand the information sheet
* Patients with remittent or active progressive MS
* Patients with a change in the disease-modifying treatment within the previous 3 months
* Patients treated with corticosteroids in the month before inclusion
* Impossibility to provide patients with the necessary information
* Patients in custody
* Patients under guardianship
Anti-psoriatic Effect of TL01 Light Therapy

This is a pilot study to investigate the effect of TL01 narrow band UVB therapy on the resident dermal dendritic cells characterized by expression of CD1c and CD141. These cells were reported to have a role in induction of tolerogenic regulatory T cells and production of IL-10. The investigators proposed to investigate the effect of NB-UVB on these subsets of cells after two weeks of treatment to provide better understanding of the mechanism of action of light treatment.

Six patients with plaque psoriasis were recruited from the phototherapy unit. These patients were referred by their dermatologist to receive narrow-band UVB (TL01) light treatment. Two 6 mm lesional skin punch biopsies were taken at baseline and 2 weeks after commencing the light treatment to study the effect of light on innate immune cells involved in psoriasis pathogenesis.

Eligibility Criteria:
Inclusion Criteria:

* Male and female psoriasis patients in whom the decision to treat with NB-UVB therapy, as part of their routine clinical care, has been taken by their dermatologist in the age range of 18-70 years.

Exclusion Criteria:

* patients currently on antipsoriatic treatment.

  * Patients with immunosuppressive diseases
  * Patients on immunosuppressive therapies
  * Pregnant or lactating female patients
  * Patients unable to provide a written consentProcedure