Genetics

Posted 2 years ago by Wales Gene Park

The Investigator proposes to record the fetal and postnatal development of children conceived using Mitochondrial Donation (MD) and to perform expert assessment of development at 18 months (corrected for gestational age) using the internationally validated Bayley-III developmental assessment tool. To record the fetal and postnatal development of children conceived using Mitochondrial Donation and to perform internationally validated Bayley-III developmental assessment tool at 18 months (corrected for gestational age). The null hypothesis for this research is that children born following the use of Mitochondrial Donation (IVF) techniques have normal neurodevelopment developmental outcomes at 18 months.

 Mitochondrial Diseases /  England

Posted 2 years ago by Wales Gene Park

ASTRAEUS: A 12-week Study Treating Participants Who Have alpha1-antitrypsin-related COPD With Alvelestat (MPH966) or Placebo The purpose of this study is to investigate the effect of alvelestat (an oral neutrophil elastase inhibitor) on blood and sputum biomarkers in patients with Pizz or null genotype alpha-1 anti-trypsin deficient lung disease. Change in a number of different blood and sputum biomarkers related to lung damage, inflammation and elastase activity will be measured over a 12 week period. The effect on lung function and respiratory symptoms will also be measured.

 Alpha 1-Antitrypsin Deficiency /  Birmingham

Posted 2 years ago by Wales Gene Park

The purpose of this study is to evaluate the effect of ARO-AAT Injection (also referred to as ARO-AAT) on a histological liver disease activity scale in participants with AAT-associated liver disease over time. Participants will receive multiple subcutaneous doses of ARO-AAT.

 Alpha 1-Antitrypsin Deficiency /  England

Posted 2 years ago by Wales Gene Park

Phase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E) The purpose of the study is to assess the long-term safety and efficacy of idebenone in patients with Duchenne muscular dystrophy (DMD) who completed the SIDEROS study. The study is an open-label, single-group, multi-center extension study in patients with DMD receiving glucocorticoid steroids who participated in the SIDEROS study and who meet all the inclusion criteria and none of the exclusion criteria for this extension study. The study consists of 4 study visits scheduled every 6 months (Visit 1/Baseline, Visit 2/Week 26, Visit 3/ Week 52 and Visit 4/ Week 78), and a follow-up visit 4 weeks after treatment discontinuation. Visit 8/Week 78 in SIDEROS study is also SIDEROS-E Visit 1/Baseline.

 Duchenne Muscular Dystrophy /  England

Posted 2 years ago by Wales Gene Park

The study seeks to further understand the experiences, sibling relationships, wellbeing and the needs of adults who have a brother or sister with a learning or developmental disability. By learning/developmental disability, we mean: Autism, Cerebral palsy, Fragile X syndrome, Down syndrome, genetic disorders etc. Your brother or sister may have one of these conditions, or several. We will refer to these conditions collectively as learning/developmental disabilities throughout this study. If you agree, you will complete an online survey about these topics. We also want to explore adult siblings' caregiving role or their expectations for caring in the future, as well as the support needs of siblings of people with intellectual/developmental disabilities. This is important, because it will help us consider ways to support the wellbeing of siblings of people with intellectual/developmental disabilities and to support whatever role they decide to take in the lives of their brothers and sisters.

 Non-Specific Genetics /  England

Posted 2 years ago by Wales Gene Park

RUSH2A: Rate of Progression in USH2A Related Retinal Degeneration The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).

 Usher Syndrome /  London

Posted 2 years ago by Wales Gene Park

The NIHR BioResource – Rare Diseases has been established to identify genetic causes of rare diseases, improve rates of diagnosis and to enable studies to develop and validate treatments; thus improving care for those with rare diseases and their families.

 Non-Specific Genetics /  Cambridge

Posted 2 years ago by Wales Gene Park

BRAGGSS- Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate

 Genetics /  Manchester


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