View clinical trials related to Genetic Diseases, Inborn.
Filter by:As part of this study patients who have undergone genetic testing in the Brigham and Women's Hospital Cardiovascular Genetics program will be randomized to receive the results of their genetic testing either by telephone call or virtual visit. At the completion of the telephone call or virtual visit patients will receive a survey to assess their understanding of their results and their satisfaction with their care.
This is a single-arm, open-label, multi-site, single-dose Phase 1/2/3 study in subjects with transfusion-dependent β-thalassemia (TDT). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (hHSPCs) using CTX001.
Studies have shown that the risk of developing heart arrhythmias, is increased in patients receiving medication for Attention-deficit hyperactivity disorder (ADHD) and depression. The QT-interval on a electrocardiogram (ECG) is often used to assess the patients risk of developing heart arrhythmias. The QT-interval defines the hearts electrical resting period and a long interval is linked to an increased risk of developing heart arrhythmias. In this project the investigators wish to examine possible side-effects in patients receiving medication for ADHD and depression and their dynamic QT-interval changes, by analysing the ECG changes that occur during "Brisk Standing".
B7451014 is a Phase 3 study to investigate PF-04965842 in patients aged 12 years and over with a minimum body weight of 40 kg who have moderate to severe atopic dermatitis. Subjects responding well to an initial open-label 12 week treatment of PF-04965842 (200 mg) taken orally once daily (QD) will be identified and randomized in a double-blind manner to receive 200 mg QD PF-04965842, 100 mg QD PF-04965842, or QD placebo. Efficacy and safety of 2 doses of PF-04965842 will be evaluated relative to placebo over 40 weeks. Subjects experiencing significant worsening of their symptoms, i.e., protocol-defined flare, enter 12 weeks rescue treatment and receive 200 mg PF-04965842 together with a marketed topical medicine. Eligible patients will have the option to enter a long-term extension study after completing the initial 12 week treatment, the 12 week rescue treatment, and the 40 week blinded treatment.
In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.
Recent advances have shown that cells from human blood, skin and urine samples can be reprogrammed to become stem cells. These are called induced Pluripotent Stem Cells (iPSCs) and share many characteristics with embryonic stem cells, including an unlimited capacity for proliferation and the potential to become any cell in the body. Beneficially, the use of iPSCs avoids the ethical difficulties which surround embryonic stem cells and allows generation of iPSC lines which are disease representative. For example, we could take skin samples from an individual diagnosed with Huntington's disease and their unaffected sibling and using this technology, generate iPSC lines from both individuals. Using these iPSCs, we could produce disease affected cell populations from the affected and unaffected individuals, use these cells to research why specific cell populations are affected by disease and test new treatments to combat disease progression, essentially producing a 'disease in a dish'. This is just one example of many for which this technology could be applied. We can also utilise gene-editing techniques to generate isogenic controls or insert disease related mutations to assess disease phenotype. Although generation of iPSC lines has been robustly proven across multiple disease backgrounds, many aspects of their downstream use still remain to be determined. Particularly, robust protocols for directing iPSCs towards cell fates such as neurons or blood cells must be developed to fully realise application of iPSCs in disease modelling and drug screening. This study involves the collection of human blood, skin or urine samples from subjects bearing a range of genetic diseases alongside those from individuals who have not been diagnosed with a disease, as controls. These samples will be used to generate iPSC lines for development of differentiation and disease phenotyping protocols.
Heart failure (HF) is a continuously growing public health problem. The study aim to provide novel insights into the role of amino acids in pathogenesis of heart failure, to obtain a better understanding of cardiac ryanodine Receptor 2 role as an essential player in excitation-contraction coupling in pathogenesis of heart failure and clarify the potential value of these markers as targets for heart failure therapy
The study aims to identify novel monogenic phenotypes from specific pedigrees and discover the underlying causal genetic variant using genetic sequencing (Sanger and/or Next Generation Sequencing - Panel/WES/WGS) methodologies in families across the United Arab Emirates (UAE).
The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.
Atopic Dermatitis (AD), also known as eczema, is a common skin disease characterized by itchy lesions. The prevalence of AD has increased over the past few decades, with 15-30% of children and 2-10%of adults being affected. The lesions of AD patients are very inflamed, with an increased number of inflammatory cells in the skin. There are not many medications available that are fully effective and can be used long-term for treatment of atopic dermatitis. Benralizumab is a monoclonal antibody used for treatment of a type of asthma called "eosinophilic asthma". Atopic dermatitis is also associated with elevated levels of eosinophils, and we would like to determine if benralizumab is effective in patients with atopic dermatitis. This is a randomized, double-blind, parallel group, placebo-controlled study will evaluate the effect of 3 doses of a fixed 30 mg dose of benralizumab administered subcutaneously (SC) every 4 weeks to patients with moderate-to-severe atopic dermatitis, on the severity of atopic dermatitis, and the cellular inflammation of skin lesions in these patients. Anti-inflammatory properties of benralizumab when a skin flare is induced in a controlled laboratory setting, in addition to the effects of benralizumab on skin that is already inflamed will be examined.It is hypothesized that benralizumab will attenuate eosinophilic inflammation in the skin.