Answer ALS: Individualized Initiative for ALS Discovery

Johns Hopkins University1,049 enrolled

Overview

Creation of a large repository of induced pluripotent stem cells (iPSC), bio-fluid samples (blood and spinal fluid (optional)), and cell lines for ALS gene identification. This will be combined carefully with collected measures of the pattern of the symptoms people with ALS have and how these change over time. People with other motor neuron diseases and healthy controls will be included as comparisons

Patients will have 5 study visits; screening, 3, 6, 9 and 12 months. There will be a one year post-participation follow-up period, during which they will receive an email or phone call interview once every 3 months. During the first year, samples will be collected, breathing, muscle strength, spasticity, general function and cognitive behavior will be assessed. Healthy controls will have 2 study visits during which blood samples will be collected and questionnaires given.

Study Type

OBSERVATIONAL

Enrollment

1,049

Conditions

Amyotrophic Lateral Sclerosis Primary Lateral Sclerosis Flail Arm ALS Progressive Muscular Atrophy Monomelic Amyotrophy Motor Neuron Disease

Eligibility

Sex: ALLMin age: 18 YearsMax age: 100 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Participants with familial or sporadic ALS diagnosed as possible, laboratory-supported probable, probable or definite according to the World Federation of Neurology (WFN) El Escorial criteria, Primary Lateral Sclerosis Flail Arm ALS, Progressive Muscular Atrophy, Monomelic Amyotrophy, Motor Neuron Disease, Asymptomatic ALS Gene Carriers * Participants who are ages 18-100, inclusive. Exclusion Criteria: * Participants with Spinal-Bulbar Muscular Atrophy * Known diagnosis of HIV/AIDS, Hepatitis B, or Hepatitis C.

Locations (8)

Cedars-Sinai Medical Center

Los Angeles, California, United States

Emory University

Atlanta, Georgia, United States

Northwestern University Feinberg School of Medicine

Chicago, Illinois, United States

Johns Hopkins University

Baltimore, Maryland, United States

Massachusetts General Hospital

Boston, Massachusetts, United States

Washington University School of Medicine

St Louis, Missouri, United States

Ohio State University Wexner Medical Center

Columbus, Ohio, United States

Texas Neurology

Dallas, Texas, United States

Outcomes

Primary Outcomes

ALS Functional Rating Scale-Revised (ALSFRS-R)

12 questions about patient's ability to function in certain activities of daily living. Each question is out of 4 with 4 being normal and 0 being completely impaired.

Time frame: once every 3 months for one year

ALS Cognitive Behavioral Scale (ALS-CBS)

short measure of cognition and behavior in patients with ALS. The cognitive portion consists of 8 tasks with a perfect score being 20. The behavioral portion measures changes in personality and behavior since the onset of ALS symptoms as well as mood, pseudobulbar affect and fatigue and is completed by a family member or caregiver. A normal score is 45.

Time frame: once every 3 months for one year

Slow Vital Capacity (SVC)

measurement of the maximum amount of air that can be exhaled following a deep breath.

Time frame: once every 3 months for one year

Strength Testing with Hand Held Dynamometer (HHD)

muscle strength testing performed on upper and lower limbs, ankles, wrists and fingers using a small hand held device. These measurements are followed over time and compared to measure decline.

Time frame: once every 3 months for one year