Track topics on Twitter Track topics that are important to you
The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause. It will investigate whether specific gene changes cause specific medical problems and will establish diagnostic criteria (signs and symptoms) for the individual syndromes.
Children and adults with a known or suspected inherited connective tissue disorder (Marfan, Ehlers-Danlos or Stickler syndrome, or other closely related disorders) and their family members may be eligible for this study.
Patients enrolled in the study will have a medical history, physical examination and blood tests, as well as other procedures that may include:
- Echocardiogram (ultrasound of the heart)
- X-rays and other imaging studies, such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans
- Lung function studies
- Urine tests
- Skin biopsy (removal of a small piece of tissue, under local anesthetic, for microscopic examination)
- Examination by various specialists (e.g., in ophthalmology, gastroenterology, rehabilitation medicine) as needed
- Questionnaires regarding chronic pain and fatigue, quality of life, and the impact of the connective tissue disorder on the patient and family.
(Patients who wish to enroll but cannot travel to NIH may have a more limited participation, including review of medical records, telephone interview regarding personal and family history, and collection of a specimen (blood, skin biopsy, or other) for genetic testing.
Patients will be notified of genetic testing results that show a change responsible for their connective tissue disorder. If they wish, the information will also be sent to their local health care provider, along with recommendations for additional tests or treatment options. No treatment is offered as part of this study.
Participating family members who do not themselves have a connective tissue disorder will provide a small blood sample for gene testing and be interviewed by telephone about their personal and family health history. Those whose blood test results show a gene change associated with a connective tissue disorder will be invited to NIH for a discussion of the findings or referred to a genetic center in their area.
We will investigate the clinical manifestations and molecular genetic defects of heritable connective tissue disorders, concentrating on the Marfan, Stickler, and Ehlers-Danlos syndromes. Although each of these conditions has been known for many years, the full spectrum of the associated phenotypes continues to be expanded and the genetic etiology of these conditions has not been completely elucidated. In addition, many patients have features overlapping two or more of the described syndromes, precluding unequivocal diagnosis. The goals of this study are to further define and characterize the full phenotype and natural history of these disorders, and to perform genetic linkage, gene identification, mutation detection, and genotype/phenotype correlations in affected individuals and families. Individuals suspected to have Marfan, Stickler or Ehlers-Danlos syndrome or a closely related disorder, as well as interested family members, will be enrolled. Participants will undergo genetic analyses and periodic clinical assessment. The expected outcomes will be improved clinical descriptions of the conditions and gene and mutation identification with analysis of genotype/phenotype correlations.
Connective Tissue Disease
National Human Genome Research Institute (NHGRI)
National Institutes of Health Clinical Center (CC)
Published on BioPortfolio: 2014-08-27T03:59:31-0400
Pulmonary arterial hypertension (PAH) is a serious and often fatal complication of connective tissue diseases including systemic sclerosis and systemic lupus erythematosus. It has been rep...
To explore the hypothesis that leg ulcers are associated with hypercoagulable states, the CLUE study will evaluate patients with connective tissue disease associated leg ulcers, to identif...
The objective of this work is to understand how the disruption of the muscle connective tissue contributes to the limb soft-tissue defects in radial dysplasia. In parallel, the researchers...
This is a double blind randomized placebo controlled trial to determine the effect of synbiotic to FOXP3 regulatory T cells, IL-17, gut permeability and gut microbiota in patients with con...
The present study aims to evaluate the clinical outcomes of immediate implant placement with or without connective tissue graft in patients with small dehiscence buccal bone. Previous stud...
- Interstitial lung disease, a common complication observed in several connective tissue diseases, causes significant morbidity and mortality. Similar to individuals with connective tissue diseases, a...
Hemodynamic assessment during exercise may unmask an impaired functional reserve of the right ventricle and the pulmonary vasculature in patients with connective tissue disease. We assessed the effect...
Corticosteroids and immunosuppressive agents are considered mainstays of therapy for connective tissue disease-related interstitial lung disease (CTD-ILD); however, tacrolimus with corticosteroid ther...
Systemic connective tissue disorders are characterized by the presence of autoantibodies and multiorgan system involvement. Juvenile systemic lupus erythematosus with or without associated antiphospho...
Devic's disease or neuromyelitis optica (NMO) is an autoimmune, inflammatory and demyelinating pathology of the central nervous system that affects the optic nerve and the spinal cord. Diagnosis confi...
Diseases that exhibit signs and symptoms suggestive of a connective tissue disease that do not fulfill clinical or diagnostic criteria for any one defined disease but overlap with criteria of multiple such diseases. Commonly overlapping diseases include systemic autoimmune connective tissue diseases such as RHEUMATOID ARTHRITIS; SYSTEMIC LUPUS ERYTHEMATOSUS; and SYSTEMIC SCLEROSIS.
Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.
Tissue that supports and binds other tissues. It consists of CONNECTIVE TISSUE CELLS embedded in a large amount of EXTRACELLULAR MATRIX.
Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.
A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...
Arthritis Fibromyalgia Gout Lupus Rheumatic Rheumatology is the medical specialty concerned with the diagnosis and management of disease involving joints, tendons, muscles, ligaments and associated structures (Oxford Medical Diction...