Clinical and Pathophysiological Investigations Into Erdheim Chester Disease

NCT01417520 | Completed

• 2 other identifiers: 11020711-HG-0207
• Study Type: observational
• Target: 88
• Locations: 1 country
• Sites: 1

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, 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

Myelofibrosis; Gaucher Disease; Pulmonary Fibrosis; Hermansky-Pudlak Syndrome (HPS); Cancer

Keywords

ECD; Erdheim-Chester Disease

Outcome Measures

Primary Outcomes (2)

• To comprehensively describe the natural history of ECD, including genetic and epidemiological aspects, its associated complications, and responses to various treatments.

  To comprehensively describe the natural history of ECD, including genetic and epidemiological aspects, its associated complications, and responses to various treatments.

  1 day

• To identify molecular markers important for diagnosis and treatment.

  To identify molecular markers important for diagnosis and treatment.

  1 day

Study Arms (1)

ECD

ECD patients of any gender and ethnicity age 2-80 years are eligible to enroll in this protocol

Eligibility Criteria

• Age: 2 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Bassou D, El Kharras A, Taoufik AT, En Nouali H, Elbaaj M, Benameur M, Darbi A. Cardiac Erdheim-Chester. Intern Med. 2009;48(1):83-4. doi: 10.2169/internalmedicine.48.1448. Epub 2009 Jan 1. No abstract available.

  PMID: 19122364 BACKGROUND

• Aouba A, Georgin-Lavialle S, Pagnoux C, Martin Silva N, Renand A, Galateau-Salle F, Le Toquin S, Bensadoun H, Larousserie F, Silvera S, Provost N, Candon S, Seror R, de Menthon M, Hermine O, Guillevin L, Bienvenu B. Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease. Blood. 2010 Nov 18;116(20):4070-6. doi: 10.1182/blood-2010-04-279240. Epub 2010 Aug 19.

  PMID: 20724540 BACKGROUND

• Barnes PJ, Foyle A, Hache KA, Langley RG, Burrell S, Juskevicius R. Erdheim-Chester disease of the breast: a case report and review of the literature. Breast J. 2005 Nov-Dec;11(6):462-7. doi: 10.1111/j.1075-122X.2005.00133.x.

  PMID: 16297093 BACKGROUND

MeSH Terms

Conditions

Primary Myelofibrosis; Gaucher Disease; Pulmonary Fibrosis; Hermanski-Pudlak Syndrome; Neoplasms; Erdheim-Chester Disease

Condition Hierarchy (Ancestors)

Myeloproliferative Disorders; Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Sphingolipidoses; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Lung Diseases, Interstitial; Lung Diseases; Respiratory Tract Diseases; Fibrosis; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Albinism, Oculocutaneous; Albinism; Eye Diseases, Hereditary; Eye Diseases; Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Platelet Storage Pool Deficiency; Blood Platelet Disorders; Hemorrhagic Disorders; Amino Acid Metabolism, Inborn Errors; Skin Diseases, Genetic; Hypopigmentation; Pigmentation Disorders; Skin Diseases; Skin and Connective Tissue Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases

Study Officials

• Kevin J O'Brien, C.R.N.P.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 13, 2011
• First Posted: August 16, 2011
• Study Start: August 1, 2011
• Study Completion: July 24, 2019
• Last Updated: July 26, 2019

Record last verified: 2019-07-24

Locations

US (1)