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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