Eye and Immunogenetic Features of Sarcoidosis
|First Received Date ICMJE||September 20, 2006|
|Last Updated Date||March 5, 2008|
|Start Date ICMJE||September 2006|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00379275 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Eye and Immunogenetic Features of Sarcoidosis|
|Official Title ICMJE||Ocular and Immuno-Genetic Manifestations of Sarcoidosis|
This study will evaluate patients with sarcoidosis to understand how the disease affects the body. Sarcoidosis is a disease that results from inflammation of body tissues. The lungs, lymph nodes in the chest, skin and eyes are most commonly affected. As the disease progresses, small lumps, or granulomas, appear in the affected tissues. In most cases, the granulomas clear up, but in cases where they do not heal and disappear, the tissues tend to remain inflamed. Eye inflammation (uveitis) associated with sarcoidosis can cause various eye diseases, sometimes leading to blindness. This study will examine the clinical, immunological and genetic features of ocular sarcoidosis.
Patients 6 years of age and older with sarcoidosis may be eligible for this study. Candidates are screened with the following procedures:
Participants are followed in conjunction with their local eye doctor as required by the status of their disease. Patients whose disease is stable are seen for an initial examination and followed every 12 months for 3 years.
Sarcoidosis is a multi-systemic granulomatous disease. The lungs, thoracic lymph nodes, the skin and the eyes are the most commonly affected organs. Most patients with sarcoidosis present with respiratory symptoms. Sarcoid uveitis is usually suspected when ocular inflammation is found in conjunction with suggestive serological and radiological studies. Currently, the diagnosis of sarcoidosis requires the demonstration of non-caseating granulomas on biopsy; but even this is not always diagnostic; more sensitive and specific noninvasive tools are needed.
Ophthalmic involvement has been reported in as many as 40% of patients with sarcoidosis, but most series report ophthalmic findings in approximately 25% of patients who develop chronic, systemic sarcoidosis. Uveitis associated with sarcoidosis can be very diverse, including: acute non-granulomatous or chronic granulomatous iridocyclitis, vitritis, retinal vasculitis, choroiditis with choroidal granulomas and papillitis secondary to optic nerve granulomas; and it can cause ocular morbidity due to a high incidence of glaucoma and cataracts. Other ophthalmic findings include lacrimal gland enlargement, secondary Sjogren's disease, scleritis, orbital gland involvement, secondary proliferative retinopathy, subretinal neovascularization, and optic neuropathy.
To better evaluate and diagnose patients, we also need to improve our ability to predict susceptibility and prognosis, especially among African-Americans. Current epidemiologic studies of sarcoidosis indicate that in the United States, African Americans have about a threefold higher age-adjusted annual incidence, 35.5/100,000, compared with Caucasians, 10.9/100,000. In addition, African Americans with chronic sarcoidosis are more likely to develop ocular manifestations than whites. The study of ocular sarcoidosis is important because it is a leading inflammatory cause of blindness and ocular morbidity. In large surveys of patients with uveitis, approximately 5% of patients were found to have ocular sarcoidosis, and approximately 10% of these patients become blind in at least one eye.
AIM 1: CLINICAL ANALYSIS:
AIM 2: IMMUNOLOGICAL ANALYSIS:
One of the goals of this study is to determine the diagnostically important cytokines in biopsy-proven ocular sarcoidosis.
The chemokine profile of the Peripheral Blood Mononuclear Cells and Broncho-Alveolar Lavage Fluid (BALF) of pulmonary sarcoidosis patients has been reported and many cytokines have been implicated in the pathogenesis of this disease.
AIM 3: GENETIC ANALYSIS:
Serum analysis for HLA Class I and II typing
A cohort of 100 patients with biopsy-proven sarcoidosis will be recruited from the Uveitis and Ocular Immunology Clinic at the National Eye Institute and the Pulmonary Clinic at the National Heart Lung and Blood Institute.
We aim to characterize the TLR activation profile in patients with ocular sarcoidosis, and compare them to patients with pulmonary sarcoidosis and normal volunteers. Using this immuno-genetic classification scheme, in conjunction with HLA typing, we hope to develop novel diagnostic and/or prognostic criteria for sarcoidosis. In addition, the TLR activation profile may allow risk stratification for different sarcoidosis phenotypes.
A cohort of 100 patients with biopsy-proven sarcoidosis will be recruited from the Uveitis and Ocular Immunology Clinic at the National Eye Institute and the Pulmonary Clinic at the National Heart Lung and Blood Institute. After obtaining informed consent, the patients will be invited to participate in the study. After appropriate enrollment, they will undergo the following
|Study Type ICMJE||Observational|
|Study Design ICMJE||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
|Publications *||Jabs DA, Johns CJ. Ocular involvement in chronic sarcoidosis. Am J Ophthalmol. 1986 Sep 15;102(3):297-301.|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Completed|
|Completion Date||December 2007|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
We will exclude participants who are unable or unwilling to give blood at the designated times in the protocol
|Ages||6 Years and older|
|Accepts Healthy Volunteers||No|
|Contacts ICMJE||Contact information is only displayed when the study is recruiting subjects|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT00379275|
|Other Study ID Numbers ICMJE||060239, 06-EI-0239|
|Has Data Monitoring Committee||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor ICMJE||National Eye Institute (NEI)|
|Collaborators ICMJE||Not Provided|
|Investigators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||December 2007|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP