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(information last updated: March 9, 2013)
Pre-fALS
(status: currently recruiting)
This is a longitudinal observational study of people who are at risk for developing fALS. We identify people as being ‘at risk’ if they have at least two family members with ALS and have an identifiable mutation (genetic change) in a gene that is known to cause ALS (SOD1, TDP-43, FUS, etc.). By studying these individuals, we hope to better understand the early pre-clinical stage of the disease, learn more about environmental risk factors for ALS, develop biomarkers of the early stages of the disease, and work towards one day preventing the disease.
Arimoclomol
(status: currently recruiting)
This is a randomized controlled clinical trial. People who are affected with rapidly progressive ALS that is caused by specific mutations in the SOD1 gene are eligible to participate. Study participants are randomized 1:1 to receive Arimoclomol or placebo for a period of 12 months. The trial requires two visits to a study center; all other study procedures are completed in participants’ homes.
MRI (MRS & DTI)
(status: currently recruiting)
The goal of this study is to evaluate magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) of the brain and spinal cord as potential biomarkers of disease progression. MRS and DTI are two types of MRI scan. This is a longitudinal study in which participants will return every 3-6 months. At each study visit they will undergo an hour-long MRI scan. This study is open to patients with either sporadic or familial ALS. The study also enrolls healthy subjects to serve as a control population.
EIM
(status: currently recruiting)
Electrical impedance myography (EIM) is a novel technique that quantifies the physical characteristics of muscle. The goal of this study is to evaluate the utility of EIM as an outcome measure for use in ALS clinical trials. EIM is an entirely painless and non-invasive test. The study involves regular visits to a study center over a period of about 12 months. This study is being lead by Dr. Seward Rutkove at the Beth Israel Deaconess Medical Center in Boston.
Cutometry
(status: currently recruiting)
Cutometry is a non-invasive technique that measures the elastic properties of skin. Prior studies have suggested that the skin of patients with ALS may differ from that of people without ALS. The goal of this study is to determine whether the elastic properties of skin change prior to the onset of ALS and how these changes compare to those observed in people who have already developed ALS. Both people at risk for fALS and people with fALS may participate.
IBMPFD
(status: currently recruiting)
IBMPFD is a degenerative disease characterized by muscle weakness, frontotemporal dementia and Paget's disease of bone. The goal of this study is to better understand the cause of muscle weakness and the extent to which this results from motor neuron disease rather than primary muscle pathology.
Stem Cells
(status: currently recruiting)
The goal of this study is to generate and characterized induced pleuripotent stem (iPS) cells from fibroblast cultures of people who harbor a mutation in the SOD1 gene. Participants undergo a 3mm punch skin biopsy, from which fibroblasts and iPS cells are generated. The study is being led by Dr. Jeffrey Rothstein and Dr. Nicholas Maragakis at Johns Hopkins University in Baltimore.
Cochrane Collaboration
(status: ongoing, not recruiting)
The Cochrane Collaboration develops systematic reviews and meta-analyses of important medical topics. In 2009 Benatar et al published a review of treatments for familial ALS/motor neuron disease, which is currently in the process of being updated with new data from more recently published randomized controlled trials. We are also in the midst of preparing a review on the subject of enteral feeding in patients with ALS.
Automated MUNE
(status: ongoing, not recruiting)
Motor unit number estimation (MUNE) is a technique used to estimate the number of motor nerves that connect to a particular muscle. MUNE is a time-consuming technique that requires substantial expertise. We are working with a group of engineering students at the Georgia Institute of Technology to develop an automated device for estimation of motor unit numbers that improves its ease of use and reproducibility.
Georgia ALS Registry
(status: completed)
Efforts are underway to establish a national ALS registry. In preparation for this National Registry, we conducted a pilot study in Georgia to examine the feasibility of using existing data sources for correctly identifying cases of ALS or related motor neuron diseases.
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