Clinical and Basic Investigations Into Erdheim Chester Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2015 by National Institutes of Health Clinical Center (CC)
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: January 17, 2015
Last verified: January 2015


- 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.

Gaucher Disease
Pulmonary Fibrosis
Hermansky-Pudlak Syndrome (HPS)

Study Type: Observational
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):

Estimated Enrollment: 100
Study Start Date: July 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. No causative gene has been identified; 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 and negative for CD1a and S-100. There is no standard treatment for ECD, although chemotherapy, radiation, stem cell transplantion, alpha-interferon, 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. 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
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • ECD patients of any gender and ethnicity age 2-80 years
  • Patients will be diagnosed as having ECD based upon pathologic evaluations of affected organs.
  • Family members are also invited to be part of the study. They will undergo a limited evaluation at the NIH Clinical Center


  • Patients will be excluded if they have a suspected diagnosis of ECD not confirmed by biopsy or another form of histiocytosis or cannot travel to the NIH because of their medical condition.
  • 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.
  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

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
Principal Investigator: Juvianee I Estrada Veras, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier: NCT01417520     History of Changes
Other Study ID Numbers: 110207, 11-HG-0207
Study First Received: August 13, 2011
Last Updated: January 17, 2015
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Erdheim-Chester Disease

Additional relevant MeSH terms:
Erdheim-Chester Disease
Pulmonary Fibrosis
Histiocytosis, Non-Langerhans-Cell
Lung Diseases
Lymphatic Diseases
Respiratory Tract Diseases processed this record on March 30, 2015