autosomal dominant Clinical Research Trials

Found 107 clinical trials

Genetics of Congenital Heart Disease

Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown. Numerous epidemiologic studies have demonstrated evidence that genetic factors likely play a contributory, if not causative, role in CHD. While numerous genes have been identified by …

136 views
25 Jan, 2021
1 location

Neurogenetics Patient Registry

The objective of this project is to develop a Neurogenetics patient database and bio repository - which includes clinical information regarding history, physical examination, laboratory testing including genetic testing (NextGen sequencing including whole exome and whole genome sequencing, SNParray, etc.), neuroradiology studies, neurophysiology studies - all ordered as clinically deemed …

0 views
27 Jan, 2021
1 location

The Spanish Familial Hypercholesterolaemia Cohort Study

SAFEHEART is a large, on-going registry study in molecularly defined patients with heterozygous FH treated in Spain.

10 views
25 Jan, 2021
1 location

PErfusioN OxyGen ConsUmptIon and ENergetics in ADPKD (PENGUIN)

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of end-stage kidney disease (ESKD). The disorder is characterized by development and continued growth of

0 views
26 Jan, 2021
1 location

Polycystic Kidney Disease Data Repository

Autosomal dominant polycystic kidney disease (PKD) is the most common inherited kidney disease, affecting more than 400,000 people in the U.S. and 5 million people worldwide. PKD is the 4th most

14 views
27 Jan, 2021
1 location

Registry of Congenital Dyserythropoietic Anemia

dyserythropoiesis. The transmission mode for Type I and II is autosomal recessive, while it is autosomal dominant or sporadic for Type III. Several clinical questions remain concerning this disease

15 views
22 Jan, 2021
2 locations

PKD Clinical and Translational Core Study

Advances in our understanding of the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) have opened up possibilities of new therapies to prevent disease progression. High

118 views
26 Jan, 2021
1 location

Carrier Frequency of a Recurring Mutation Causing Recessive Type VIII Osteogenesis Imperfecta in African-Americans and Contemporary West Africans

Classical osteogenesis imperfecta (OI), or brittle bone disease , is a well described autosomal dominant bone dysplasia caused by mutations in the genes encoding type I collagen, the

4 views
07 Nov, 2020
1 location

Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea

The aim of this study is to assess the prognosis of paroxysmal kinesigenic choreoathetosis (PKC) in Korean.

0 views
22 Jan, 2021

Hereditary Angioedema Kininogen Assay

A multicenter epidemiological observational study aiming to explore the cleaved high-molecular weight kininogen (cHMWK) including identification and characterization of other metabolite/biomarkers in HAE type 1/2 patients

angioedema

0 views
07 Mar, 2021
7 locations

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Found 107 clinical trials