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Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation (DIAN-TU) (DIAN-TU)

To assess the safety, tolerability, biomarker, cognitive, and clinical efficacy of investigational products in participants with an Alzheimer's disease-causing mutation by determining if treatment with the study drug improves disease-related biomarkers and slows the rate of progression of cognitive or clinical impairment.

LIPAD - LRRK2 International Parkinson's Disease Study

LRRK2-associated Parkinson's syndrome is clinically indistinguishable from idiopathic Parkinson's disease. It is inherited autosomal dominant, that means if one of the two gene copies is altered, the disease occurs. However, the disease does not occur in every mutation carrier, the penetrance is reduced and the mechanisms for that are still …

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 …