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Clinical and Pathophysiological Investigations Into Erdheim Chester Disease

NCT01417520 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 88

Last updated 2019-07-26

No results posted yet for this study

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, 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.

Objectives:

\- To collect study samples and medical information on people with Erdheim Chester Disease.

Eligibility:

\- Individuals 2 to 80 year of age who have been diagnosed with Erdheim Chester Disease.

Design:

* 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.

Conditions

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Kevin J O'Brien, C.R.N.P. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
2 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-08-01
Completion
2019-07-24

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01417520 on ClinicalTrials.gov