Clinical and Basic Investigations Into Erdheim Chester Disease
- Erdheim Chester Disease (ECD) is a very rare disease in which abnormal white blood cells start growing and affect the bones, kidneys, skin, and brain. ECD can cause severe lung disease, kidney failure, heart disease, and other complications that lead to death. Because ECD is a rare disease, found mostly in men over 40 years of age, there is no standard treatment for it. More information is needed to find out what genes can cause ECD and how best to treat it.
- To collect study samples and medical information on people with Erdheim Chester Disease.
- Individuals 2 to 80 year of age who have been diagnosed with Erdheim Chester Disease.
- Participants will be screened with a physical exam and medical history.
- Participants will have a study visit to provide samples for study, including blood, urine, and skin tissue samples. Participants will also have lung, heart, and muscle function tests; imaging studies of the brain, chest, and whole body; a treadmill running stress test; an eye exam; and other tests as needed by the study doctors.
- Participants will be asked to return for a similar set of tests every 2 years, and to remain in contact for possible treatment options.
|Myelofibrosis Gaucher Disease Pulmonary Fibrosis Hermansky-Pudlak Syndrome (HPS) Cancer|
|Study Design:||Time Perspective: Other|
|Official Title:||Clinical and Basic Investigations Into Erdheim-Chester Disease|
|Study Start Date:||July 29, 2011|
Please refer to this study by its ClinicalTrials.gov identifier: NCT01417520
|Contact: Juvianee I Estrada Veras, M.D.||(301) firstname.lastname@example.org|
|Contact: Kevin J O'Brien, C.R.N.P.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Kevin J O'Brien, C.R.N.P.||National Human Genome Research Institute (NHGRI)|