Status:
COMPLETED
Clinical and Pathophysiological Investigations Into Erdheim Chester Disease
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Myelofibrosis
Gaucher Disease
Eligibility:
All Genders
2-80 years
Brief Summary
Background: \- 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...
Detailed Description
Rare and potentially lethal, Erdheim-Chester Disease (ECD) is a histiocytic neoplasm about which little is known, and for which there remains a paucity of effective treatments. Histologically, it is c...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- ECD patients of any gender and ethnicity age 2-80 years are eligible to enroll in this protocol.
- Patients will be diagnosed as having ECD based upon pathologic evaluations of affected organs.
- Any child older than 2 years with confirmed ECD by pathology will be enrolled in our study since childhood cases are so rare. The child must be clinically stable prior to visiting the NIHCC.
- Patients that agree to be part of this research study are expected to undergo the evaluations and testing of this protocol.
- EXCLUSION CRITERIA:
- Patients will be excluded if they have a suspected diagnosis of ECD not confirmed by biopsy or another form of histiocytosis.
- -If the patients cannot travel to the NIH because of their medical condition, they can still participate in our study by submitting tissue and blood for research purposes after consent has been obtained and diagnosis of ECD has been confirmed through tissue-biopsy evaluation. This exception applies to all patients aged 2-80 years.
- Children under age two years are excluded because there is no urgency for a very early diagnosis and care is more readily provided to older children at the Clinical Center.
- Pregnant women will not take part in this study because of the fetal risks, unless they will be participating by only submitting samples of previously collected tissue. We will not encourage pregnant women to undergo affected organ surgery or biopsy to participate in this study, unless clinically indicated and recommended by their private physicians.
Exclusion
Key Trial Info
Start Date :
August 1 2011
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
July 24 2019
Estimated Enrollment :
88 Patients enrolled
Trial Details
Trial ID
NCT01417520
Start Date
August 1 2011
End Date
July 24 2019
Last Update
July 26 2019
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892