cyrilzakka/clinical-trials huggingface dataset:
Homocystinuria: Treatment With N-Acetylcysteine

The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria.

Homocystinuria (MIM 236200) due to CBS deficiency is the most common inborn error of sulfur amino acid metabolism with severe clinical manifestations. We propose:

1. An open-label pilot study of N-acetylcysteine (NAC) to lower plasma homocysteine levels in those that have not responded to conventional treatment which includes betaine (Cystadane®, Orphan Medical Inc.), which while lowering Hcy levels does not normalize it, and is very expensive. There are no known contraindications to NAC used for nutritional supplementation and it is relatively inexpensive.

   Oral NAC has reduced total plasma homocysteine in healthy subjects in a dose-dependent fashion.
2. Measurement of flow-mediated vasodilation of the brachial artery (endothelial function) in response to NAC treatment. Endothelial dysfunction is a precursor of atherogenesis.
3. Sequencing the CBS gene in these individuals in order to identify novel mutations causing homocystinuria and identify polymorphisms in other genes that may affect response to treatment.

Eligibility Criteria:
Inclusion Criteria:

* Homocystinuria (lens dislocation and hyperhomocysteinemia)
* Age ≥ 18 (the age of majority in Canada)

Exclusion Criteria:

* Nursing mothers or pregnant women
* Chronic liver disease
* Taking nitrates
* Cystine stone formers
* History of active peptic ulcer disease
* Subjects receiving carbamazepine and metoclopramide
* Use of other products containing cysteine or N-acetylcysteine (e.g. nebulized NAC, cysteine supplements, methionine restriction)
* Hypersensitivity to any ingredient in the study product
* Clinically significant, abnormal laboratory test on screening (Visit 2)

Other Criteria:

* Women of child-bearing capacity must be using an acceptable method of birth control and have a negative pregnancy test before being enrolled
Androgen Replacement Therapy in Women With Hypopituitarism

This is a study to determine whether testosterone replacement with TheraDerm can improve bone density, mood, sex drive, thinking, and distribution of body fat and muscle mass in women with hypopituitarism.

Patients will be randomized into 2 groups to receive testosterone replacement therapy or placebo. Group 1 will receive 2 testosterone patches and estrogen pills for 12 months. Group 2 will receive 2 placebo patches and estrogen pills for 12 months. Changes in bone density, bone metabolism markers, body composition, libido, and quality of life will be compared in the women receiving testosterone replacement therapy with that of the women receiving placebo.

Completion date provided represents the completion date of the grant per OOPD records

Eligibility Criteria:
Inclusion criteria:

* Hypogonadism and/or hypoadrenalism of central origin
* Testosterone or free testosterone level below the median for age-matched normal controls
* Prior estrogen preparation for at least 6 months

Exclusion criteria:

* Any disease known to affect bone metabolism, including untreated hypothyroidism or hyperthyroidism
* Change in thyroid hormone dose in the last 3 months
* Untreated Cushing's syndrome
* Renal failure
* Alcoholism
* Anorexia nervosa
* Prior use of medication known to affect bone metabolism (e.g., supraphysiologic doses of glucocorticoids, phenytoin, bisphosphonates, or calcitonin) within the past 3 months
* Pregnant or nursing
* Uncontrolled hypertension
* ALT greater than 3 times upper limit of normal
* Serum creatinine greater than 2 times the upper limit of normal
* Any contraindication to estrogen therapy, including history of breast cancer or undiagnosed uterine bleeding
* Concurrent growth hormone replacement therapy, if patient has been receiving it for less than 2 years
Evaluation of Approved Pacing Lead (Model 5076) for Use in MRI Environment

The purpose of this study is to test the safety and effectiveness of the Medtronic CapSureFix Novus Model 5076 lead when patients are implanted with the Medtronic Advisa MRI pacemaker and undergo an MRI scan.


Eligibility Criteria:
Inclusion Criteria:

* Subjects who have Class I and II indication for implantation of a dual chamber pacemaker according to the ACC/AHA/HRS guidelines
* Subjects who are able to undergo a pectoral implant
* Subjects who:
* are receiving an IPG for the first time, OR
* are receiving a replacement IPG connected to two previously- implanted (atrial and ventricular) Model 5076 leads
* Subjects who are able and willing to undergo elective MRI scanning without sedation
* Subjects who are geographically stable and available for follow-up at the study site for the length of the study

Exclusion Criteria:

* Subjects with a mechanical tricuspid heart valve.
* Subjects with a history of significant tricuspid valvular disease.
* Subjects for whom a single dose of 1.0mg dexamethasone acetate may be contraindicated.
* Subjects who require a legally authorized representative to obtain consent.
* Subjects who have abandoned (inactive) pacemaker and/or defibrillator leads
* Subjects who are immediate candidates for an ICD.
* Subjects who require an indicated MRI scan, other than those specifically described in the study, before the one-month post MRI/waiting period follow-up.
* Subjects with previously implanted active medical devices (exception Model 5076 Lead and Advisa MRI IPG).
* Subjects with a non-MRI compatible device (such as ICDs or neurostimulators) or material implant (e.g., non-MRI compatible sternal wires, neurostimulators, biostimulators, metals or alloys).
* Subjects with medical conditions that preclude the testing required by the protocol or limit study participation.
* Subjects who are enrolled or intend to participate in another clinical trial (of an investigational drug or device, new indication for an approved drug or device, or requirement of additional testing beyond standard clinical practice) during this clinical study.
* Pregnant women, or women of child bearing potential and who are not on a reliable form of birth control.
* Subjects with exclusion criteria required by local law (e.g., age, breastfeeding).
Concomitant Use of Gardasil (V501) (Human Papillomavirus [Types 6, 11, 16, 18] Recombinant Vaccine) With Combined Diphtheria, Tetanus, Pertussis Vaccine and Meningococcal Conjugate Vaccine in Adolescents (V501-025)

Data from this study are expected to demonstrate that V501 (Human Papillomavirus (HPV) \[Types 6, 11, 16, 18\] Recombinant Vaccine) , when administered concomitantly with a combined diphtheria, tetanus, pertussis (Tdap) vaccine and a meningococcal conjugate vaccine in adolescents remains immunogenic and well-tolerated and it does not impair the immunogenicity of the concomitant vaccines.


Eligibility Criteria:
Inclusion Criteria:

* Must be healthy boys or girls, 11-17 years of age
* Must be a virgin with no intention of becoming sexually active during the study period
* Must have been properly vaccinated against diphtheria, tetanus and pertussis

Exclusion Criteria:

* Must not have received a vaccine against diphtheria, tetanus and pertussis in the past 5 years
* Must not have received any prior human papillomavirus (HPV) vaccine or meningococcal vaccine
Evaluation of the Nasal and Conjunctival Response in Subjects Allergic to Birch Pollen in the ALYATEC Environmental Exposure Chamber

The aim of this study is to assess the nasal and conjunctival response in subjects allergic to birch pollen during controlled exposures in the ALYATEC environmental exposure chamber (EEC)

This is a single-center, single-blind, placebo-controlled study. The first part of the study consists of 6 exposure sessions in Alyatec EEC, including placebo and birch pollen allergen exposures.

The second part of the study involves in-field evaluations of rhinitis and conjunctivitis symptoms during birch pollen season.

Alyatec environmental exposure chamber, also called allergen challenge chamber, allows to evaluate allergic symptoms in standardized and reproducible conditions. All the metrological parameters (temperature, air flow, hygrometry ...) are controlled as well as the allergen concentration diffused in the room.

This enables to induce and observe rhinitis, conjunctivitis and asthma symptoms for up to 20 patients at the same time, in a reproducible way and without the potential perturbations or contaminations of the natural environment.

The current study aims to get specific information about allergic symptoms induced in the Alyatec EEC chamber in patients sensitized to birch pollen allergen.

Eligibility Criteria:
Inclusion Criteria:

* A clinical history of allergic rhinitis to birch pollen for at least 2 consecutive pollen seasons requiring the taking of a symptomatic drug with or without associated asthma
* Positive skin prick tests for birch pollen (\> 3 mm)
* IgE specific to birch \> 0.75 kUI / L.
* Positive unit rapid nasal provocation test for birch pollen
* Subjects having signed informed consent
* Subjects affiliated to a social security scheme
* Subjects able to understand and complete the procedures related to the study
* Women of childbearing potential should have a negative pregnancy test throughout the study period with effective contraception

Exclusion Criteria:

* Specific immunotherapy (SIT) for birch allergens for more than a month in the 3 years preceding the screening
* Current use of Specific immunotherapy for another allergen
* Medical history of anaphylaxis following exposure to birch pollen
* Medical history of anaphylaxis linked to another allergen in the last 6 weeks
* Nasal polyps, nasal septum deviation or diagnosis of non-allergic rhinitis
* Subjects allergic to indoor environmental allergens (cat allergens, mold, dust mites) with - Obvious exposure to these allergens.
* Uncontrolled allergic pathology (rhinitis, conjunctivitis)
* Forced expiratory volume in 1 second (FEV1) \<70% of predicted normal values
* Moderate to severe asthma (GINA 3 to 5)
Prevalence of Lysosomal Hydrolase Alpha-glagtosidase Deficiency in Patients With Antiphospholipid Syndrome.

Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and chronic kidney disease. Because this disease is a rare disease most of the time it is misdiagnosed, so in this study we will check out the Prevalence of lysosomal hydrolase alpha-glagtosidase deficiency ( Fabry disease) in patients with Antiphospholipid Syndrome.

the investigators would like to assess the prevalence of Fabry in men and women aged 18-100 who were diagnosed with antiphospholipid syndrome in our departmental clinic in 2000-2017 It is very important to diagnose Fabri that then the treatment of patients can vary dramatically.

The study will include 100 adult patients (18-100) men and women. Testing for the Fabri test in men is an enzyme test and will be performed subject to their consent to sign informed consent. In the women, an enzyme test will be carried out, and the plasma Lys-3-3 plasma storage, as recommended in the recently published diagnostic algorithms, is examined. If diagnosed, a patient will be referred to a genetic institute for further genetic counseling

Eligibility Criteria:
Inclusion Criteria:

* Clinical diagnosis of Antiphospholipid syndrome.
* able to read and sign inform concent

Exclusion Criteria:

• Fabry disease.
Safety & Effectiveness Evaluation of Seraph 100 in Treatment of Pts With COVID-19

Safety and Effectiveness Evaluation of Seraph 100 Microbind Affinity Blood Filter (Seraph 100) in the treatment of patients with COVID-19

This is a prospective, open-label, randomized, controlled clinical investigation designed to evaluate the safety and effectiveness of the Exthera Medical Seraph 100 Microbind Affinity Blood Filter in the treatment of patients with confirmed SARS-CoV-2 infection.

The clinical investigation will be conducted at 3 centers in Germany and at 2 centers in Spain. Subjects will be randomized to the treatment group (Seraph 100 + standard of care) versus control group (standard of care only).

Subjects will be followed for 28 days. For viral quantification, study-related serum samples are done immediately before the initial treatment with Seraph 100 starts in the treatment group or immediately after randomization into the control group. Additionally, serum sampling at timepoint 12 hours is applicable for both treatment and control group.

Eligibility Criteria:
Inclusion Criteria:

1. Subjects with confirmed SARS-CoV-2 infection
2. Be ≥ 18 years old and ≤90 years old
3. Acute respiratory distress syndrome assessed by a modified Sequential Organ Failure Assessment score of at least 2 points
4. At least one additional organ dysfunction assessed by a modified Sequential Organ Failure Assessment score of at least 1 point
5. Written or electronic consent of the subjects who are legally competent and have the capacity to give consent

Exclusion Criteria:

1. Subject is currently participating in another clinical investigation
2. Pregnant or nursing subjects and those who plan pregnancy during the clinical investigation follow-up period
3. Presence of comorbid conditions, or other medical, social, or psychological conditions that, in the investigator's opinion, could limit the subject's ability to participate in the clinical investigation or to comply with follow-up requirements, or impact the scientific soundness of the clinical investigation results
4. Have Child-Pugh Class C cirrhosis
5. Have platelet count \<30.000/uL
6. Contraindications for heparin sodium for injection
7. Subjects demonstrating any contraindication for this treatment as described in the IFU
8. Subjects with known allergy of polyethylene and copolyester
9. Subjects with hospital-acquired SARS-CoV-2 infections
10. Subject is held in an institution by court or official order
11. Subject is dependent on the sponsor or investigator so that consent can no longer be considered voluntary
The Effect High Velocity Low Amplitude Hip Mobilization on Strength in Subjects With Lower Extremity Pathology

Introduction: Lower extremity weakness associated with musculoskeletal pathology can cause activity limitations. Physical therapy intervention in the form of exercise is commonly directed at improving muscular performance, however, neuromuscular adaptations may limit the effectiveness of traditional strengthening exercises. Manual therapy techniques have been used as a disinhibitory intervention to increase muscle activation and strength before participating in strengthening exercises or performing functional tasks While there is recent evidence to support joint mobilization as a valuable manual therapy disinhibitory intervention Currently, there is no evidence to substantiate anecdotal experience that a HVLAT hip distraction mobilization improves muscle performance in subjects with lower extremity pathology and lower extremity weakness. The purpose of this study was to determine if a HVLAT hip distraction mobilization would result in an immediate change of maximal force output of the quadriceps, gluteus maximus and gluteus medius.

Methods: Forty individuals with a lower extremity pathology volunteered for this study. Inclusion criteria were having a unilateral musculoskeletal pathology, being greater than 18 years of age, 10% decrease in muscle strength in symptomatic side compared to healthy side, and absence of medical precautions that would prevent a maximal effort strength test and exclusion criteria included individuals with a history lower extremity recent muscle or tendon ruptures (within the past 6 months) and postoperative knee, hip and ankle surgery. Demographic data, including diagnosis from referring physician were collected. All subjects completed the Lower extremity function scale (LEFS). A single evaluator blinded to the involved extremity was responsible for quadriceps, gluteus medius and maximus strength analysis pre and post mobilization of both symptomatic and non-symptomatic sides. The subject underwent the HVLAT hip distraction mobilization of the symptomatic side, and an immediate re-assessment of strength of both symptomatic and non-symptomatic sides followed the mobilization.


Eligibility Criteria:
Inclusion Criteria:

* Individuals with a lower extremity pathology volunteered for this study
* Being greater than 18 years of age
* 10% decrease in muscle strength in symptomatic side compared to healthy side
* Absence of medical precautions that would prevent a maximal effort strength test.

Exclusion Criteria:

* Included individuals with a history lower extremity arthroplasty.
* Recent muscle or tendon ruptures (within the past 6 months)
* Unhealed fractures
* Neurological diseases
* Malignant cancer
* Osteoporosis
* Active infections processes
* Early postoperative knee, hip and ankle surgery with range of motion and weight bearing restrictions.
Does Vessel-sparing Surgery in Anterior Approach Total Hip Arthroplasty Change Clinical Outcome?

During direct anterior approach (DAA) for total hip arthroplasty (THA), ligation of the lateral femoral circumflex artery and vessel is always conducted. However, this standardized procedure may jeopardize blood muscle perfusion and cause tenderness in the tensor fascia lata muscle. The investigators want to investigate whether blood vessel-sparing surgery is feasible, reproducible, and would alter outcomes following DAA THA.

The surgical technique of the vessel-sparing procedure will be described and investigated in a prospective blinded RCT. The investigators hypothesize that the vessel-sparing technique is feasible in 60% of the patients. If these vessels were not sacrificed, the investigators expect the incidence of TFL tendinopathy to be lower.

Primary objective: to compare a group with successful vessel-sparing with a vessel-sacrificed-group for:

1. Incidence of TFL tendinopathy
2. Patient-reported outcomes
3. Component placement Secondary objective: to observe the feasibility of the vessel-sparing surgical technique.

This is a monocentric prospective randomized blinded clinical trial during a period of minimum 3 years or until 150% of the sample size is included (100 patients).

Eligibility Criteria:
Inclusion criteria To be eligible to participate in this study, a subject must meet all criteria below;

* Scheduled for THA by Dr. Frans-Jozef Vandeputte or Professor Dr. Kristoff Corten
* Provide signed and dated informed consent
* Males or females age \> 18 years

Exclusion criteria

A potential subject who meets any of the following criteria will be excluded from participation in this study:

* Neurological problems with sensorial and/or motoric disturbances (Multiple Sclerosis, Parkinson's disease, hemiplegia, ...)
* Previous surgery of the ipsilateral hip
* Ipsilateral neck of femur fracture
* Previous contralateral THA
* Significant hip deformity: Crowe type 3 and 4 dysplasia, Leg-Calvé-Perthes
* Avascular necrosis of the femoral head
* Participating in another study that may interfere with participation in this study
Collection of Blood and Bone Marrow From Healthy Volunteers and Patients for Research Purposes

This study is designed to provide bone marrow and/or blood cells for other research studies. Patients participating in this study will be asked to provide small amounts of medical information and undergo a limited physical examination designed to detect the presence of any obvious blood disease. A blood and bone marrow sample will be obtained to verify that the patient has normal blood cell production.

Researchers plan to obtain bone marrow samples to be used in laboratory studies directed toward understanding the formation of blood cells. Bone marrow samples will be taken from the hip bone of patients and healthy volunteers.

These samples are valuable to many research studies within the Hematology Branch of the National Heart, Lung, and Blood Institute, including studies of normal and abnormal production of blood cells, the viral causes of blood diseases, and the role of the immune system in bone marrow failure and related conditions....

This protocol defines in general terms the purposes for which blood and bone marrow specimens will be collected by members of the Hematology Branch and the conditions under which the sampling will be performed. Samples of blood and bone marrow from healthy volunteers and from patients are indispensable for many research projects, including studies of normal and abnormal hematopoiesis, the viral etiology of blood diseases, and the role of the immune system in marrow failure and related conditions.

Eligibility Criteria:
* INCLUSION CRITERIA:

Healthy volunteers age greater than or equal to 18 years.

Subjects with hematologic disease age greater than or equal to 2 (for subjects less than 18, blood and bone marrow specimens will be obtained concurrently with clinically indicated sampling).

EXCLUSION CRITERIA:

History of a significant bleeding disorder.

Abnormal host-defense mechanisms.
Preoperative Chemoradiation With Capecitabine and Cetuximab

* feasibility and tolerance of preoperative therapy with Cetuximab in combination with Capecitabine and radiotherapy for patients with locally advanced operable rectal carcinoma
* collection of response rate (T-downstaging, pathological complete remission), correlation of responsiveness with EGFR-status


Eligibility Criteria:
Inclusion Criteria:

* Age: 18-80
* bioptical confirmed adenocarcinoma of the rectum in operable T3-T4NxM0 status. In spite of infiltration of the neighbouring organs the tumor has to be basically surgically complete resectable
* no former chemotherapy, radiotherapy of pelvis or abdomen and/or tumor resection of a rectum carcinoma
* WHO performance status 0-2
* adequate bone marrow reserve (granulocytes - not more than 1.500/µl; thrombocytes - not more than 100.000/µl)
* adequate hepatic function ( bilirubin - not more than 1.5 x ULN; GOT and GPT - not more than 3.5 x ULN)
* adequate renal function (creatinin - not more than 1.5 mg/dl)
* women of childbearing potential: exclusion of pregnancy (negative urin or serum pregnancy test)
* willingness of women of childbearing potential and accordingly of potent men to use approved contraceptives (e.g. birth-control pill, loop, condom) during and at least 3 month after conclusion of the study
* life expectancy of at least 3 month
* signed Informed Consent before recruitment
* exclusion of distant metastases at the time of recruitment

Exclusion Criteria:

* former radiotherapy of pelvis or abdomen
* former chemotherapy
* any other kind of malign tumor (except adequate treated skin basalioma or in situ cervical carcinoma) in the last 5 years
* general contraindication or known hypersensitivity against Cetuximab and/or Capecitabine
* Non malign disease, if there is a contraindication with radiotherapy or chemotherapy with Cetuximab and Capecitabine or a resection of the rectum: high-graded cardiac insufficiency, angina pectoris, hypertension or arrhythmia, hepatic disease, significant neurological or psychiatric disorders
* florid, serious infections at the time of recruitment
* legally limited contractual capability or evidence of neurological or psychiatric disease, if it will constrict the patients compliance in the opinion of the investigator
* evidence of lacking cooperation of the patient
* pregnant or breast feeding women