Trial Information

Summary: New Approaches for Diagnosis of Neuropathy and Motor Neuron Disease: Biomarker Discovery

What is the purpose of this research study?
Unique abnormalities have been identified in the spinal fluid and blood of some patients with ALS and motor neuropathy that may be specific for the illness. The concentration of these molecules may reflect the severity of the illness. This This study will test to see if this observation is true. This study will also help to find other molecules in the blood and spinal fluid from patients with other diseases to help us to understand the illness and identify more effective treatments.

This study does not offer any treatment for ALS or other neurological diseases. It may help us to better understand neurological diseases and to develop treatments in the future.

Who can participate?
You may qualify to participate in this study if your doctor has diagnosed you with having a problem with your nerves (peripheral neuropathy) or having a form of motor neuron disease [such as spinal muscular atrophy or amyotrophic lateral sclerosis (ALS)]. You may also be eligible if your doctor has diagnosed you with some other neurological disease. Your blood and spinal fluid will be compared with patients whose neurological diseases have not been identified.

What is done in this study?
After consent for participation is signed and you agree to participate, blood that is taken as part of your routine clinical care or drawn for the purposes of this study will be tested. Spinal fluid and blood samples are obtained as part of the clinical diagnostic evaluation or clinical care of patients with neuromuscular disease. Four tablespoons of additional blood may be drawn for the purposes of this study.

In addition to having blood taken, you will be evaluated using the Appel ALS (AALS) scoring system. The AALS is a way for a neurologist to determine a number to indicate how strong your body is and how well your body can do certain tasks. The AALS makes it possible to compare your results to previous examinations and to other research participants. This examination measures speech, swallowing, breathing, muscle strength and functioning in your arms and legs.

If you have had a spinal tap previously as part of your routine clinical care, you can give us permission to test your stored samples.

No Compensation Provided

Patient Inclusion/Exclusion Criteria:

Diagnosed with a problem with your nerves, such as peripheral neuropathy, or diagnosed with a form of motor neuron disease such as spinal muscular atrophy or amyotrophic lateral sclerosis (ALS). You are also eligible if your doctor has diagnosed you with some other neurological disease.

N/A

If you would like to learn more about participating in this study, please send an e-mail message using the form below.