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Report for Clinical Trial NCT01417520

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Clinical and Pathophysiological Investigations Into Erdheim-Chester Disease

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.

NCT01417520 Myelofibrosis Gaucher Disease Pulmonary Fibrosis Hermansky-Pudlak Syndrome (HPS) Cancer
MeSH: Pulmonary Fibrosis Gaucher Disease Hermanski-Pudlak Syndrome Erdheim-Chester Disease
HPO: Pulmonary fibrosis


Primary Outcomes

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

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

Time: 1 day

Description: To identify molecular markers important for diagnosis and treatment.

Measure: To identify molecular markers important for diagnosis and treatment.

Time: 1 day

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 V600E

We will analyze the data with the assistance of an NIH statistician using parametric and non-parametric methods to assess overall trends in survival, and to look for patterns in organ involvement, patterns in response to various therapeutic regimens, and, lastly, to look for an association between the BRAF V600E mutation and disease severity. --- V600E ---



HPO Nodes


HPO:
Pulmonary fibrosis
Genes 80
HLA-DPA1 RCBTB1 PSMC3IP HLA-DRB1 PTPN22 CASP10 POLR3H TERT HLA-DRB1 SP110 HPS4 CLCA4 CCN2 ASAH1 FAM111B TINF2 SFTPA1 MUC5B ATP11A ABCA3 TERT RNF168 KIAA0319L TERT TERT MUC5B RASGRP1 PLEC HLA-DPB1 NUP107 NOP10 NKX2-1 CCR6 THOC2 PRKCD NHP2 DPP9 STX1A RTEL1 TERC HLA-DRB1 DSP FAS DKC1 DCTN4 NR5A1 PARN FAM13A FAS CCR6 TGFB1 CAV1 AP3B1 TERC SFTPC IRF5 BTNL2 CAV1 ALMS1 TERT HPS1 SFTPA2 STN1 SPIDR FASLG CTLA4 RTEL1 SFTPC SFTPA2 BMP15 PARN PRTN3 MRPS22 TINF2 CFTR RNF168 IRF5 FSHR CCN2 TERC