Answer ALS: Individualized Initiative for ALS Discovery (AnswerALS)

Answer ALS -Creation of a Large Bio-repository of iPS Cells, Cell Lines, and Bio-fluid Samples, Combined With Clinical Information to Rapidly Advance Therapeutics That Could Treat ALS

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

Study Overview

• Status: Completed
• Conditions: Motor Neuron Disease; Amyotrophic Lateral Sclerosis; Primary Lateral Sclerosis; Progressive Muscular Atrophy; Healthy Controls; Flail Arm ALS; Monomelic Amyotrophy; Asymptomatic ALS Gene Carriers

Detailed Description

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 (Actual): 1049

Contacts and Locations

Study Locations

• United States
  • California
    • Los Angeles, California, United States, 90048
      • Cedars-Sinai Medical Center
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Emory University
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Northwestern University Feinberg School of Medicine
  • Maryland
    • Baltimore, Maryland, United States, 21205
      • Johns Hopkins University
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts General Hospital
  • Missouri
    • Saint Louis, Missouri, United States, 63110
      • Washington University School of Medicine
  • Ohio
    • Columbus, Ohio, United States, 43221
      • Ohio State University Wexner Medical Center
  • Texas
    • Dallas, Texas, United States, 75214
      • Texas Neurology

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years to 96 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

patients with ALS, Primary Lateral Sclerosis Flail Arm ALS Progressive Muscular Atrophy Monomelic Amyotrophy Motor Neuron Disease Asymptomatic ALS Gene Carriers

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	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.	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.	once every 3 months for one year

Collaborators and Investigators

• Sponsor: Johns Hopkins University
• Collaborators: Massachusetts General Hospital; Washington University School of Medicine; Emory University; Massachusetts Institute of Technology; Ohio State University; University of California, Irvine; Cedars-Sinai Medical Center; New York Genome Center; Leandro P. Rizzuto Foundation; Texas Neurology; Northwestern University Les Turner ALS Center
• Investigators: Principal Investigator: Nicholas J Maragakis, MD, Johns Hopkins University; Principal Investigator: James D Berry, MD, Massachusetts Generel Hospital

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2015
• Primary Completion (Actual): December 31, 2019
• Study Completion (Actual): January 1, 2020

Study Registration Dates

• First Submitted: October 9, 2015
• First Submitted That Met QC Criteria: October 9, 2015
• First Posted (Estimate): October 12, 2015

Study Record Updates

• Last Update Posted (Actual): January 13, 2020
• Last Update Submitted That Met QC Criteria: January 9, 2020
• Last Verified: January 1, 2020

More Information

Terms related to this study

• Keywords: ALS; biomarker; stem cell; disease progression
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Atrophy; Sclerosis; Motor Neuron Disease; Amyotrophic Lateral Sclerosis; Muscular Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: IRB00082277