Clinical Trials Related to The Laboratory of Vascular and Matrix Genetics

DNA tells the body how to grow and function. Williams-Beuren syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) are rare diseases caused by changes in a part of a person s DNA. Symptoms of both conditions include vascular problems including narrow blood vessels and supravalvular aortic stenosis (SVAS) or supravalvular pulmonary stenosis. Individuals with WS may also have developmental challenges and personality differences. Researchers at the NIH want to find out why only some people with WS and SVAS have severe symptoms. They want to collect samples and data to see what DNA or environmental changes affect the severity of the disease.

People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness. Blood vessels may have focal narrowings called stenoses or may just be globally more narrow. Researchers want to see how blood vessel differences in people with Williams Syndrome and supravalvular aortic stenosis affect organs in the body including the heart, gut, kidneys, and brain.

SARS-CoV-2 is the virus that causes COVID. It has caused a global pandemic. Most people have no to mild symptoms. But some people need to be hospitalized, and a small number need critical care. Older age as well as some socio-demographic factors and chronic health conditions may play a role in the severity of COVID. In this study, researchers want to assess population-, disease-, and gene-based risks for features associated with severe SARS-CoV-2 outcomes.

Materials by Rare Disease/Group:

• 22q11.2 Deletion or Duplication
• Aplastic Anemia
• Arterial Tortuosity Syndrome
• CADASIL
• DICER1
• Familial Cancer Syndromes
• First Responders
• Fragile X
• G6PD
• Heart Disease Risk Factors
• Hermansky-Pudlak Syndrome
• Inherited Bone Marrow Failure
• Neurofibromatosis
• Non-CF Bronchiectasis
• Non-Syndromic Aortopathy
• Li-Fraumeni Syndrome
• Loeys-Dietz Syndrome
• Marfan Syndrome
• Melanoma
• Psoriasis
• Rare Genetic Eye Conditions
• Rare Immunodeficiency Syndromes
• Sex Chromosome Variations
• Sickle Cell Disease
• Turner Syndrome
• Vascular Ehlers-Danlos Syndrome
• Williams Syndrome