Status:
COMPLETED
Studies of Heritable Disorders of Connective Tissue
Lead Sponsor:
National Institute on Aging (NIA)
Conditions:
Ehlers-Danlos Syndrome
Stickler Syndrome
Eligibility:
All Genders
2+ years
Brief Summary
Background: \- Heritable disorders of connective tissue are genetic conditions that can affect the skin and other parts of the body. They are related to mutations in genes that are responsible for bu...
Detailed Description
Heritable disorders of connective tissue are a heterogenous group of genetic conditions caused by defects of extracellular matrix elements such as collagen, elastin, mucopolysaccharides or related bio...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Individuals and their family members will be offered enrollment if they have an established or suspected diagnosis of Marfan, Stickler, or Ehlers-Danlos syndrome, or Overlap connective tissue disorder.
- Determination of eligibility will be made by review of prior records.
- In some cases, a screening evaluation to establish the diagnosis may be performed subjects may be excluded from further participation if the diagnosis is ruled out. Cytogenetic analysis may be necessary to rule out a chromosomal abnormality that has overlapping features with HDCT.
- Clinical inclusion criteria require: personal or family history of one or more of the following features in a pattern suggestive of a heritable connective tissue disorder: Marfanoid body habitus, aortic dilatation and/or dissection, ectopia lentis, detached retina, vitreous degeneration and/or early onset high myopia, posterior cleft palate, joint laxity and/or dislocation, premature osteoarthritis, skin fragility, striae, easy bruising and/or hyperextensibile skin, pectus excavatum or carinatum, scoliosis, spondylolisthesis and/or dural ectasia, Chiari I Malformation, high frequency sensorineural hearing loss, fibromuscular dysplasia of arteries, aneurysms.
- EXCLUSION CRITERIA:
- The only exclusion criterion is inability to provide informed consent, or the absence of a guardian who is authorized to provide informed consent in the case of minor subjects.
- There will be no exclusion based upon age, gender, ethnicity, socioeconomic status, or any other factor except ability to provide informed consent.
- Pregnant and nursing women may be limited in their participation in some aspects of the study (e.g. ionizing radiation exposure or MRI) during the time that they are pregnant or nursing.
Exclusion
Key Trial Info
Start Date :
January 21 2003
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
January 2 2015
Estimated Enrollment :
929 Patients enrolled
Trial Details
Trial ID
NCT00270686
Start Date
January 21 2003
End Date
January 2 2015
Last Update
April 5 2018
Active Locations (1)
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1
National Institute of Aging, Clinical Research Unit
Baltimore, Maryland, United States, 21224