Baby Detect : Genomic Newborn Screening
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1134 moreNewborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.
Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository
Hypertrophic CardiomyopathyHypertrophic Obstructive Cardiomyopathy2 moreThe Hearts in Rhythm Organization (HiRO) is a national network of Canadian researchers/clinicians, working towards a better understanding of the rare genetic causes of sudden cardiac death (SCD). The HiRO Hypertrophic Cardiomyopathy registry, biobank and imaging data repository (HiRO-HCM) is a multicenter study that will prospectively enroll patients with HCM as well as those carrying sarcomeric gene variants predisposing to HCM. The objectives of HiRO-HCM are: to better understand the natural history of the disease and identify clinical markers and biomarkers for adverse outcomes; to derive and validate risk prediction models for disease expression, complications and response to therapy; to better define the genetic architecture of sarcomeric and non-sarcomeric HCM.
Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe...
CardiomyopathyHypertrophic3 moreThe purpose of this study is to evaluate the effect of perhexiline on exercise performance (efficacy) and safety in patients with hypertrophic cardiomyopathy and moderate-to-severe heart failure following dosing for 16 weeks.
Registry and Prevalence of Gene Mutation in Korean Patients With Familial Hypertrophic Cardiomyopathy...
Familial Hypertrophic CardiomyopathySet the Korean Familial Hypertrophic Cardiomyopathy (KFHC) registry to study the prevalence of gene mutations in Korean patients with familial hypertrophic cardiomyopathy
Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease
CardiomyopathyHypertrophic1 moreGenetically inherited heart diseases (familial cardiomyopathies) are conditions affecting the heart passed on to family members through abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses. In this study researchers hope to determine the signs and symptoms (clinical correlation) associated with specific genetic abnormalities causing inherited heart diseases. In order to do this, researchers plan to evaluate patients and family members of patients diagnosed with inherited heart disease. Patients participating in the study will undergo several tests including blood tests, electrocardiograms (EKG), and echocardiograms. Patients may also be asked to undergo an MRI of the heart to provide a clearer picture of it. Patients participating in this study may not be directly benefited by it. However, information gathered from the study may contribute to the medical care, treatment, and prevention of problems for others in the future.