Vascular Disease Discovery Protocol

NHLBI has a broad interest in diseases with vascular features and/or perturbations that enhance cardiovascular risk. This natural history protocol focuses on the evaluation of patients that present with rare genetic conditions presenting a vascular phenotype, disease manifestations uncharacteristic of more common cardiovascular diseases or presenting with common cardiovascular disease with suspected rare genetic modifiers/novel disease mechanisms.

Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)

The purpose of this study is to establish a repository of biospecimens from affected and unaffected cohorts (as reference biospecimens) to identify underlying disease mechanism(s). The biospecimens may include blood (plasma, serum, peripheral blood mononuclear cells (PBMCs), saliva, buccal mucosa, urine, and skin biopsies. The primary objective is to create a robust resource to support basic and translational research by providing a mechanism for collecting, tracking, storing, dispensing, analyzing, and disposing of laboratory research samples from affected and unaffected cohorts. This biorepository will advance high-quality research in the areas of genetics and personalized medicine.

Etidronate for Arterial Calcifications Due to Deficiency in CD73 (ACDC)

Etidronate is a drug that helps to slow or stop the natural process that dissolves bone tissue. It is approved to treat other conditions, such as Paget disease. It is also used to treat hypercalcemia. Our clinical study investigates the effects of etidronate treatment in a cohort of ACDC patients to see if it can be used to treat the symptoms of ACDC and improve pain and blood flow in the hands and feet.

CADASIL Disease Discovery Protocol

This natural history protocol is focused on characterizing the etiology and natural history of CADASIL subjects through comprehensive clinical and molecular characterizations.