Found 7 clinical trials
EAS Familial Hypercholesterolaemia Studies Collaboration
Familial hypercholesterolaemia (FH) is a common genetic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If untreated, lifelong exposure to elevated LDL-C results in a substantially increased risk of (premature) cardiovascular disease as compared to the general population.
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- 19 Feb, 2024
A 48-Month Study to Evaluate Long-Term Effectiveness of Elocta on Joint Health
This is a 48-month observational, prospective, multicentre study. The overall aim of the study is to evaluate the long-term effectiveness of Elocta treatment on joint health in patients treated prophylactically with Elocta in a real-world setting.
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- 19 Feb, 2024
Better Delineation of YY1 Related Phenotype and Epigenetic Signatures.
YY1 related disorder, also known as Gabriele-de-Vries syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities. The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile, and the brain MRI …
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- 19 Feb, 2024
GROWing Up With Rare GENEtic Syndromes
During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy.
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- 19 Feb, 2024
Assessment Psychological Distress for Cancer Heredity Test
Patients attented at the cancer genetic counselling unit, who have criteria for conducting a genetic syndrome test related to hererditary cancer, will be consecutively evaluated. To knowing the psychological morbidity it is relevant to providing care for these patients.
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- 19 Feb, 2024
Follow-up With Preimplantation Genetic Testing Patients
The main purpose of this study is to perform longitudinal evaluations of clinical outcomes and personal perspectives following utilization of preimplantation genetic testing (PGT). Patients indicating willingness to participate in research during informed consent to perform PGT will be eligible for inclusion. A licensed genetic counselor will conduct a recorded …
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- 19 Feb, 2024
Early Detection of Familial Hypercholesterolemia in Children
Heterozigous FH is an underdiagnosed disease in the paediatric population. Its early detection, would allow us to initiate lifestyle therapeutical changes and early pharmacological therapy if necessary. This is a key fact to reduce atherosclerosis progression and cardiovascular risk in adulthood. Moreover, it will allow, detecting the first and second …
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- 19 Feb, 2024