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Report for Clinical Trial NCT02559869

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Imaging and BioFluid Biomarkers in Amyotrophic Lateral Sclerosis

This is a multicenter, 18-month study, which aims to identify imaging and biofluid biomarkers in people with ALS to expand the understanding of ALS pathology, treatment targets, disease progression, and anatomical differences between different disease phenotypes. This pilot project is tailored to produce imaging tools that will allow researchers to conduct future ALS clinical trials more efficiently which may in turn impact the pace for ALS drug discovery.

NCT02559869 Amyotrophic Lateral Sclerosis (ALS)
MeSH: Motor Neuron Disease Amyotrophic Lateral Sclerosis Sclerosis
HPO: Abnormal anterior horn cell morphology Amyotrophic lateral sclerosis

1 Interventions

Name: [18F] GE-180

Description: PET Tracer Ligand

Type: Drug

Amyotrophic Lateral Sclerosis (ALS) Healthy Controls


Primary Outcomes

Description: Aim 1 will be accomplished by obtaining [18F] GE-180 PET imaging from 25 people with ALS compared to 25 age, gender, and binding affinity matched healthy volunteers.

Measure: Measure & localize brain inflammation in people with ALS via [18F] GE-180 PET imaging.

Time: 12 months

Description: Aim 1 will be accomplished by obtaining state of-the-art MRI acquisition sequences from 50 people with ALS compared to 50 MRI age- and gender-matched healthy volunteers.

Measure: Define anatomical, structural, and functional changes in the brain via MRI of ALS Subjects vs. Healthy Controls at Baseline

Time: 12 months

Description: Blood from 100 subjects will be studied to quantitate circulating pro- and anti-inflammatory monocyte/macrophage and T cells, with results to be correlated with neuroimaging and evaluated as potential biomarkers of disease progression.

Measure: Determine systemic inflammatory factors that may modify the progression or other clinical or imaging correlates of ALS.

Time: 12 months

Secondary Outcomes

Description: Clinical and [18F] GE-180 PET imaging data will be collected every 6 months from the 25 people with ALS for at least 12 months.

Measure: Determine the longitudinal changes in brain inflammation in people with ALS in correlation with ALS severity and rate of progression.

Time: 12 months

Description: Clinical and MRI data will be collected every 3 months from 50 people with ALS for at least 12 months.

Measure: Determine the longitudinal changes in the anatomical, structural, and functional measures in people with ALS, and build ALS prediction models using the clinical and MRI data.

Time: 12 months

Time Perspective: Prospective

Case-Control


There is one SNP

SNPs


1 rs6971

The presence of unstable psychiatric disease, cognitive impairment, or dementia that would impair ability of the subject to provide informed consent, according to SI judgment 7. Pregnant women or women currently breastfeeding 8. Anything that, in the opinion of the investigator, would place the subject at increased risk or preclude the subject's full compliance with or completion of the study In addition, any subject meeting any of the following criteria during screening evaluations will be excluded from entry into the PET portion of the study: 1. Radiation exposure that exceeds the site's current guidelines 2. Low affinity TSPO binders determined by having a Thr/Thr polymorphism in the TSPO gene (rs6971) at the Screening Visit Women of Childbearing Potential (WOCBP) For the purposes of this study, women of child bearing potential are defined as all women who are capable of becoming pregnant, unless they meet one of the following criteria: - 12-months post-menopausal - Post-hysterectomy - Surgically sterile Inclusion Criteria Study subjects meeting all of the following criteria will be allowed to enroll in the study: 1.

The presence of unstable psychiatric disease, cognitive impairment, or dementia that would impair ability of the subject to provide informed consent, according to SI judgment 7. Pregnant women or women currently breastfeeding 8. Anything that, in the opinion of the investigator, would place the subject at increased risk or preclude the subject's full compliance with or completion of the study In addition, any subject meeting any of the following criteria during screening evaluations will be excluded from entry into the PET portion of the study: 1. Radiation exposure that exceeds the site's current guidelines 2. Low affinity TSPO binders determined by having a Thr/Thr polymorphism in the TSPO gene (rs6971) at the Screening Visit Women of Childbearing Potential (WOCBP) For the purposes of this study, women of child bearing potential are defined as all women who are capable of becoming pregnant, unless they meet one of the following criteria: - 12-months post-menopausal - Post-hysterectomy - Surgically sterile Amyotrophic Lateral Sclerosis (ALS) Motor Neuron Disease Amyotrophic Lateral Sclerosis Sclerosis In this trial, approximately 200 subjects will participate in this study from 2 Northeast ALS Consortium (NEALS) centers in the United States.



HPO Nodes


HPO:
Abnormal anterior horn cell morphology
Genes 18
ASAH1 TFG CPLANE1 CEP126 DCTN1 IGHMBP2 PRPH SMN1 SMN2 VRK1 SMN1 ATXN3 UBA1 SOD1 SMN1 NEFH SETX GLE1
Amyotrophic lateral sclerosis
Genes 77
MATR3 TREM2 VCP FUS PRPH ANXA11 ALS2 C9ORF72 HNRNPA1 PRPH PFN1 FUS UBQLN2 SQSTM1 ATXN2 MATR3 TBK1 CHMP2B SIGMAR1 PON1 OPTN MAPT MATR3 ANG VCP DAO ERBB4 SQSTM1 SPG11 NEFH EPHA4 CCNF ANG TARDBP DCTN1 PON2 SOD1 ANXA11 UBQLN2 GLT8D1 FIG4 OPTN DCTN1 TARDBP CHMP2B VAPB SIGMAR1 HNRNPA1 CFAP410 PFN1 PSEN1 HNRNPA1 SOD1 SPG11 C9ORF72 ALS2 TRPM7 ERBB4 CHCHD10 KIF5A VAPB PON3 FIG4 GLE1 NEK1 CHCHD10 PPARGC1A TUBA4A VCP UNC13A TBK1 VCP HNRNPA2B1 TAF15 FUS NEFH SETX