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Completed No phase listed Observational

Clinical and Pathophysiological Investigations Into Erdheim Chester Disease

ClinicalTrials.gov ID: NCT01417520

Public ClinicalTrials.gov record NCT01417520. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

ClinicalTrials.gov public records Last synced Sep 6, 2026, 10:07 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Official title

Clinical and Pathophysiological Investigations Into Erdheim-Chester Disease

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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.

Study identification

NCT ID
NCT01417520
Recruitment status
Completed
Study type
Observational
Phase
Not listed
Enrollment
88 participants

Conditions and interventions

Eligibility (public fields only)

Age range
2 Years to 80 Years
Sex
All
Healthy volunteers
Healthy volunteers not accepted

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date
Jul 31, 2011
Primary completion
Not listed
Completion
Jul 23, 2019
Last update posted
Jul 25, 2019

2011 – 2019

United States locations

U.S. sites
1
U.S. states
1
U.S. cities
1
Facility City State ZIP Site status
National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda Maryland 20892

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

About this trial record page

What this page shows
Public field values for ClinicalTrials.gov record NCT01417520, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do
No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from
Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh
Last update posted Jul 25, 2019 · Synced Sep 6, 2026

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Open the official record

The complete protocol, eligibility criteria, and contact information for NCT01417520 live on ClinicalTrials.gov.

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