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NCT ID: NCT02175914 Recruiting - Clinical trials for FAP-Familial Adenomatous Polyposis

Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis

Start date: June 2014
Phase: Phase 4
Study type: Interventional

Colorectal cancer (CRC) is a leading cause for cancer related mortality in the western world with a lifetime risk of 6%. Etiology is complex, while genetic background significantly affects the risk. Around one third of all genetic disorders as well as most cases of Familial Adenomatous Polyposis (FAP) and a large proportion of all sporadic CRC cases occur as a result of premature nonsense mutations (creating a stop codon) in an individual's adenomatous polyposis coli (APC) gene. Nonsense mutations are single-point alterations in the DNA that prematurely halt the protein translation process, producing a shortened, nonfunctional protein. In many of these cases, if the cell can be 'persuaded' to ignore the premature stop codon signal, the resulting protein may be able to ameliorate or stop the disease. Recently, members of the aminoglycoside family of antibiotics have been found to induce ribosomal read-through of nonsense mutations, leading to expression of a full length, functional protein. Investigators have recently shown that members of the aminoglycoside and macrolide antibiotic families can induce read-through of the nonsense mutations in the APC gene and lead to reduced oncogenic phenotypes in CRC cells and in different mice models. The aim of this project is to determine the ability of the macrolide antibiotic-erythromycin to induce read-through of the nonsense mutations in the APC gene and to induce expression of a full length, functional APC protein in patients suffering from FAP and to tests its effect on adenoma number and size and on desmoid tumors in these patients. The future goal is to maximize the effect of stop-codon suppressors on APC while minimizing side effects. In this study investigators will select FAP patients which carry APC nonsense mutations, treat them with erythromycin PO for 4-6 months and examine colonic and duodenal adenomas as well as abdominal desmoid tumors, that will be documented before during and after treatment. In parallel, investigators will test polyp, adenoma and desmoid tissue samples as well as blood samples from these patients for changes in expression levels of the APC protein and related oncogenic markers. Suppression of nonsense mutations within the APC gene should be of benefit for patients suffering from FAP, attenuated FAP or multiple adenomas and for patients with advanced or diffuse CRC. Furthermore, given the rapid progress being made in the identification of different nonsense mutations in human genes that lead to mostly un-curable disease, the identification of clinically approved compounds that suppress nonsense mutations and that can be administered long-term without significant side effects would open new venues in the treatment of genetic human diseases that arise from pre-mature stop codons in important coding sequences. Immediate goal: establish the ability of erythromycin to read-through APC nonsense mutation in FAP patients. The read-through effect of erythromycin will be clinically tested by counting and measuring the number and size of both colonic and duodenal adenomas before and over treatment and by measuring the size of known desmoid tumors. Samples of the adenomas and desmoid tumors will be tested by western blot, immunofluorescence and immunohistochemistry for restoration of APC expression and changes in oncogenic markers. These experiments should be conducted within 6 month. Long term objective: 1. Determine the lowest dose of erythromycin that can inhibit growth of colonic neoplasia and CRC in patients expressing a truncated APC protein due to nonsense mutations. 2. Examine the ability of a panel of additional macrolide antibiotics to induce APC nonsense mutation suppression using in-vitro methods. Investigators will focus on macrolide antibiotics that are currently in clinical use and are administrated for long terms. These objectives should take around 6 month and will be conducted in parallel.

NCT ID: NCT02175589 Enrolling by invitation - Clinical trials for Familial Mediterranean Fever

Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation

Start date: June 2014
Phase: Phase 2
Study type: Interventional

The purpose of this study is to evaluate the effect of discontinuation of colchicine treatment in a specific group of asymptomatic FMF patients with a single mutation in MEFV gene, both from a clinical and laboratory aspects.

NCT ID: NCT02175290 Recruiting - Clinical trials for Spinocerebellar Ataxia 3

Machado-Joseph Disease in Israel

Start date: June 2014
Phase: N/A
Study type: Observational [Patient Registry]

Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA-3) is the most common dominant ataxia. The genetic cause of this late-onset degenerative disorder is the expansion of a (CAG)n tract located in the exonic region of the ATXN3 gene. In 1994 the first case of MJD among the Yemenite Jewish subpopulation living in Israel was published. The puropse of this study is to describe the clinical phenotype and genotype of the Yemenite Jewish subpopulation with MJD living in Israel

NCT ID: NCT02173977 Not yet recruiting - Infertility Clinical Trials

Ultrashort GnRH Agonist/Antagonist Versus GnRH Antagonist IVF

Start date: June 2014
Phase: Phase 2
Study type: Interventional

The purpose of this study is to evaluate the appropriate controlled ovarian hyperstimulation (COH) protocol in good prognosis patients undergoing IVF treatment. The stimulation characteristics of cycles which include ultrashort flare GnRH agonist combined with flexible multidose GnRH antagonist will be compared to the flexible multidose GnRH antagonist protocol. The investigators hypothesized that combining the stimulatory effect of GnRH agonists and immediate suppression of the GnRH antagonist in a unique protocol may be a valuable new COH strategy for IVF patients, resulting in improved ART outcome.

NCT ID: NCT02173821 Completed - Clinical trials for Idiopathic Growth Hormone Deficiency

A Follow-up Study to Examine the Presence of Anti-human Growth Hormone Antibodies Following a Study (FE 999905 CS07) of Zomacton in Children With Growth Hormone Deficiency

Start date: October 2014
Phase: Phase 3
Study type: Interventional

This is a follow-up study of patients, treated with one daily dose of Zomacton or one daily dose of Genotropin in the previously completed FE 999905 CS07 trial, who had presence of anti-hGH antibodies at any post-dosing visit during the 12-month treatment period. No investigational medicinal product will be administered in connection with this follow-up study. Eligible patients will attend one visit in this follow-up study.

NCT ID: NCT02173431 Withdrawn - Clinical trials for Pressure Ulcer Stage 1

Recognize High Pressure Areas in Human Body to Prevent Decubitus Ulcers

BEDSORES
Start date: June 2014
Phase: N/A
Study type: Observational [Patient Registry]

Prolonged external pressure to the tissue leads to compression, ischemia and development of pressure ulcer. Underweight seems to be associated with high pressure ulcer risk but the distinct relation between overweight and pressure ulcer development is uncertain. Bedsores are caused by pressure against the skin that limits blood flow to the skin and nearby tissue. Others factors related to limited mobility can make the skin vulnerable to damage and contribute to the development of pressure sores. Three primary contributing factors are sustained pressure, friction and shear. Bedsores are easier to prevent than to treat.

NCT ID: NCT02168998 Completed - Clinical trials for Stress, Physiological

Cortisol Measurement During Intravenous Access With a Medical Clown

Start date: August 2014
Phase: N/A
Study type: Interventional

The purpose of this study is to determine whether the presence of a medical clown in a pediatric emergency department procedure room would reduce children's anxiety. The investigators hypothesize that this positive influence will be expressed as lower levels of the stress hormone (Cortisol) in the blood.

NCT ID: NCT02168946 Completed - Bacteremia Clinical Trials

Efficacy, Safety, Tolerability of Vabomere Compared to Best Available Therapy in Treating Serious Infections in Adults

Start date: July 2014
Phase: Phase 3
Study type: Interventional

Vabomereā„¢, (meropenem-vaborbactam) is being compared to the Best Available Therapy in the treatment of adults with selected serious infections due to Carbapenem Resistant Enterobacteriaceae

NCT ID: NCT02168868 Recruiting - Autistic Disorder Clinical Trials

Immune Tests in Blood Samples From Children With ASD

Start date: May 2013
Phase:
Study type: Observational [Patient Registry]

Behavioral testing is the gold standard for diagnosing ASD. These tests, including ADOS and ADI-R, are subjective, require trained staff to administer, are time-consuming, and can only be administered at a later age. Blood-, urine- or stool-based diagnostic biomarker test for ASD would enable objective early diagnosis, potentially even before clinical symptoms are present, eliminate the need for trained staff and enable early intervention. Such a test would not only conserve money and time but would also provide clues to ASD pathogenesis.

NCT ID: NCT02168829 Active, not recruiting - Stroke Clinical Trials

Optimal Anticoagulation for Higher Risk Patients Post-Catheter Ablation for Atrial Fibrillation Trial

OCEAN
Start date: January 2016
Phase: Phase 4
Study type: Interventional

This trial is comparing medical approaches for stroke prevention in people who have atrial fibrillation (AF) and have undergone a successful procedure called ablation to eliminate or substantially reduce the arrhythmia. AF is normally associated with an increased risk of stroke which in many patients can be prevented with appropriate blood thinner therapy. This trial will compare a strategy of oral anticoagulant therapy after successful ablation to therapy with an aspirin per day.