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Clinical and Basic Investigations Into Erdheim Chester Disease

This study is currently recruiting participants.
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Verified April 3, 2017 by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier:
First received: August 13, 2011
Last updated: June 30, 2017
Last verified: April 3, 2017


- 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 Type: Observational
Study Design: Time Perspective: Other
Official Title: Clinical and Basic Investigations Into Erdheim-Chester Disease

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):

Estimated Enrollment: 100
Study Start Date: July 29, 2011
Detailed Description:
Erdheim-Chester Diseases (ECD) is a very rare non-Langerhans cell histiocytosis of unknown origin and pathogenesis. It has been reported mainly in adult males over the age of 40 years, although cases have been reported in females as well. Children are rarely affected by this condition. Mutation of the BRAF gene has been recently identified in 50% of Erdheim Chester lesions in a French cohort18; family studies have not been performed due to the rarity and sporadic nature of the disease. The clinical characteristics of ECD range from asymptomatic to multisystemic involvement; longitudinal progression and natural history have not been well documented. ECD commonly affects the bones, kidneys, retroperitoneal space, skin and brain. After diagnosis, the disease progresses rapidly, causing fatal outcomes due to severe lung disease, chronic renal failure, cardiomyopathy and other complications. The diagnosis of ECD relies upon imaging studies and specific pathologic findings in biopsies of affected organs, i.e., fibrosis and infiltration of the affected tissues with foamy histiocytes, lymphocytes, and plasma cells. Immunohistochemistry reveals cells positive for CD68, CD 163 and negative for CD1a and S-100; although a 20% positivity has been reported for the S-100 marker. There is no standard treatment for ECD, although chemotherapy with cladribine, radiation, stem cell transplantation, alpha-interferon, anakinra, imatinib, steroids and sirolimus have been proposed. Symptomatic improvement has been reported with some of these therapies, but death within a few years after diagnosis remains the expected outcome. For patients where the BRAF V600E mutation has been detected, the use of BRAF Inhibitors such as vemurafenib is currently under study. We are currently studying the use of Dabrafnib and Trametinib in patients with the BRAF V600E mutation. In this protocol, we will clinically evaluate ECD patients, obtain cells, plasma, and urine, search for genes that can be responsible for ECD, and perform other studies dictated by each patient s presentation.

Ages Eligible for Study:   2 Years to 80 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • 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.


  • Patients will be excluded if they have a suspected diagnosis of ECD not confirmed by biopsy or another form of histiocytosis.

    --If the patient 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 year 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 be able to be part of this study because of the risks that can be harmful to the fetus, unless they will be participating by only submitting samples of already available affected tissue while they are pregnant. By any means we will not encourage pregnant women to undergo affected organ surgery or biopsy in order to participate in this study unless clinically indicated and recommended by their primary care provider.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01417520

Contact: Juvianee I Estrada Veras, M.D. (301) 594-2952
Contact: Kevin J O'Brien, C.R.N.P. (301) 435-2824

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   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Kevin J O'Brien, C.R.N.P. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT01417520     History of Changes
Other Study ID Numbers: 110207
Study First Received: August 13, 2011
Last Updated: June 30, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Erdheim-Chester Disease

Additional relevant MeSH terms:
Pigmentation Disorders
Primary Myelofibrosis
Pulmonary Fibrosis
Gaucher Disease
Hermanski-Pudlak Syndrome
Erdheim-Chester Disease
Pathologic Processes
Myeloproliferative Disorders
Bone Marrow Diseases
Hematologic Diseases
Lung Diseases
Respiratory Tract Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Albinism, Oculocutaneous
Eye Diseases, Hereditary processed this record on September 19, 2017