Answer ALS: Individualized Initiative for ALS Discovery (AnswerALS)

• ClinicalTrials.gov Identifier: NCT02574390
• Recruitment Status: Completed
• First Posted: October 12, 2015
• Last Update Posted: January 13, 2020
• Sponsor: Johns Hopkins University
• Collaborators: Massachusetts General Hospital; Emory University; Ohio State University; Washington University School of Medicine; Cedars-Sinai Medical Center; University of California, Irvine; Massachusetts Institute of Technology; New York Genome Center; Leandro P. Rizzuto Foundation; Texas Neurology; Northwestern University Les Turner ALS Center
• Information provided by (Responsible Party): Johns Hopkins University

Study Description

Brief Summary:

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

Condition or disease
Amyotrophic Lateral Sclerosis; Primary Lateral Sclerosis; Flail Arm ALS; Progressive Muscular Atrophy; Monomelic Amyotrophy; Motor Neuron Disease; Asymptomatic ALS Gene Carriers; Healthy Controls

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 Design

• Study Type: Observational [Patient Registry]
• Actual Enrollment: 1049 participants
• Observational Model: Case-Only
• Time Perspective: Prospective
• Target Follow-Up Duration: 1 Year
• Official Title: 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
• Actual Study Start Date: December 2015
• Actual Primary Completion Date: December 31, 2019
• Actual Study Completion Date: January 1, 2020

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

1. ALS Functional Rating Scale-Revised (ALSFRS-R) [ Time Frame: once every 3 months for one year ]
   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.
2. ALS Cognitive Behavioral Scale (ALS-CBS) [ Time Frame: once every 3 months for one year ]
   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.
3. Slow Vital Capacity (SVC) [ Time Frame: once every 3 months for one year ]
   measurement of the maximum amount of air that can be exhaled following a deep breath.
4. Strength Testing with Hand Held Dynamometer (HHD) [ Time Frame: once every 3 months for one year ]
   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.

Biospecimen Retention:   Samples With DNA

plasma, serum, DNA, Cerebrospinal fluid, induced pluripotent stem cells,

Eligibility Criteria

• Ages Eligible for Study: 18 Years to 100 Years (Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes
• 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

Criteria

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.

Contacts and Locations

Locations

United States, California

Cedars-Sinai Medical Center

Los Angeles, California, United States, 90048

United States, Georgia

Emory University

Atlanta, Georgia, United States, 30322

United States, Illinois

Northwestern University Feinberg School of Medicine

Chicago, Illinois, United States, 60611

United States, Maryland

Johns Hopkins University

Baltimore, Maryland, United States, 21205

United States, Massachusetts

Massachusetts General Hospital

Boston, Massachusetts, United States, 02114

United States, Missouri

Washington University School of Medicine

Saint Louis, Missouri, United States, 63110

United States, Ohio

Ohio State University Wexner Medical Center

Columbus, Ohio, United States, 43221

United States, Texas

Texas Neurology

Dallas, Texas, United States, 75214

Sponsors and Collaborators

Johns Hopkins University

Massachusetts General Hospital

Emory University

Ohio State University

Washington University School of Medicine

Cedars-Sinai Medical Center

University of California, Irvine

Massachusetts Institute of Technology

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

More Information

Additional Information:

• Responsible Party: Johns Hopkins University
• ClinicalTrials.gov Identifier: NCT02574390
• Other Study ID Numbers: IRB00082277
• First Posted: October 12, 2015
• Last Update Posted: January 13, 2020
• Last Verified: January 2020

Keywords provided by Johns Hopkins University:

ALS; stem cell; biomarker; disease progression

Additional relevant MeSH terms:

Motor Neuron Disease; Amyotrophic Lateral Sclerosis; Muscular Atrophy; Muscular Atrophy, Spinal; Sclerosis; Pathologic Processes; Atrophy; Pathological Conditions, Anatomical; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Spinal Cord Diseases; Central Nervous System Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Metabolic Diseases; Neuromuscular Manifestations; Neurologic Manifestations