Collagen Vascular Diseases Clinical Trials

A listing of Collagen Vascular Diseases medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

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Found 46 clinical trials
BBD Longitudinal Study of Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) is a rare disorder that causes bones to break easily. People with OI may have broken bones with little or no trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. OI can range from very severe to …

col1a2
x-rays
dental exam
compression fracture
rare disorder
  • 113 views
  • 24 Jan, 2021
  • 10 locations
Pathogenetic Basis of Aortopathy and Aortic Valve Disease

The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.

computed tomography
marfan syndrome
aortic diseases
thoracic aortic aneurysm
aneurysm
  • 106 views
  • 23 Jan, 2021
  • 1 location
Genotype-Phenotype Correlations in Patients With Alport Syndrome

Alport syndrome (AS) is caused by pathogenic variants in the type IV collagen genes COL4A3, COL4A4, and COL4A5. This study aims to enroll families and patients with a history of renal hematuria in 27 hospitals and detect these three genes for AS screening. This study also aims to analysis the …

  • 0 views
  • 11 Jul, 2021
  • 1 location
Results of Telescoping Nail In OI; a Case Series

Assess the postoperative functional outcomes after surgical correction of skeletal deformities of lower limbs in osteogenesis imperfecta patients as regard ambulation status, postoperative complications and reoperation rate.

  • 0 views
  • 10 Sep, 2021
  • 1 location
Osteogenesis Imperfecta Blood Pressure Study

Osteogenesis Imperfecta (OI) is a genetic disorder caused by mutations to the alpha-1 or alpha-2 chain of type I collagen. Clinically, the disorder is characterized by bones that fracture easily, often from little or no apparent trauma. There is no information about Some institutions perform blood pressure monitoring on these …

genetic disorder
type i collagen
x-rays
pain management
  • 0 views
  • 14 Mar, 2021
  • 1 location
Gynecological Follow-up of Patients With Dystrophic Epidermolysis Bullosa (EBD)

Dystrophic epidermolysis bullosa is a rare genetic pathology resulting in fragility of the skin and mucous membranes, causing bubbles and wounds following trauma. Scarring is pathological with a tendency to retraction. The gynecological and in particular the vulvovaginal mucous membranes can be affected but no description of any series is …

  • 0 views
  • 25 Feb, 2021
  • 2 locations
Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa

Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by genetic mutations in the gene for type VII collagen. Patients with RDEB develop large, severely painful blisters and open wounds from minor trauma to their skin. We are screening subjects with RDEB to evaluate characteristics of the subjects and their …

  • 29 views
  • 31 Mar, 2021
  • 1 location
A Pilot Study to Explore the Role of Gut Flora in Epidermolysis Bullosa

This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records.

autism
  • 5 views
  • 12 Sep, 2021
  • 1 location
Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation

Background Osteogenesis Imperfecta (OI) is a connective tissue disorder. OI affects many aspects of a person s health and growth. It can cause frequent fractures, short stature, and bowing of the long bones. There is no known cure for OI so researchers want to learn more about it. Objectives To …

bone mineral density
col1a2
x-rays
dental exam
hearing test
  • 6 views
  • 23 Jul, 2021
  • 1 location
Evaluation and Treatment of Patients With Connective Tissue Disease

This study offers evaluation and treatment of patients with a suspected connective tissue disorder. The protocol is not designed to test new treatments; rather, patients receive standard care. The study is designed to: 1) allow NICHD's staff to learn more about connective tissue disorders, 2) train physicians in the evaluation …

x-rays
ct scan
blood drawing
connective tissue disorder
rheumatism
  • 520 views
  • 15 Aug, 2021
  • 1 location