SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01417520

Developed by Shray Alag, 2019.
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: Primary Myelofibrosis Pulmonary Fibrosis Gaucher Disease Erdheim-Chester Disease Hermanski-Pudlak Syndrome
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 57
TGFB1 RASGRP1 CLCA4 STX1A ABCA3 PRTN3 RNF168 SFTPA2 DPP9 FAM13A ALMS1 NUP107 TINF2 RTEL1 DSP SFTPC HLA-DPA1 ASAH1 HLA-DPB1 RCBTB1 HLA-DRB1 BTNL2 HPS4 CFTR HPS1 FSHR KIAA0319L PSMC3IP DKC1 CASP10 PRKCD SFTPA1 PTPN22 IRF5 PARN NOP10 CCN2 ATP11A MUC5B CCR6 NR5A1 CTLA4 CAV1 SPIDR PLEC DCTN4 AP3B1 FAS NHP2 FASLG TERC SP110 TERT MRPS22 STN1 BMP15 FAM111B