Answer ALS: Individualized Initiative for ALS Discovery

NCT02574390 | Completed

• 1 other identifier: IRB00082277
• Study Type: observational
• Target: 1,049
• Locations: 1 country
• Sites: 8

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

Conditions

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

Keywords

ALS; stem cell; biomarker; disease progression

Outcome Measures

Primary Outcomes (4)

• 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

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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.

You may not qualify if:

• Participants with Spinal-Bulbar Muscular Atrophy
• Known diagnosis of HIV/AIDS, Hepatitis B, or Hepatitis C.

Sponsors & Collaborators

• Johns Hopkins University: lead
• Massachusetts General Hospital: collaborator
• Emory University: collaborator
• Ohio State University: collaborator
• Washington University School of Medicine: collaborator
• Cedars-Sinai Medical Center: collaborator
• University of California, Irvine: collaborator
• Massachusetts Institute of Technology: collaborator
• New York Genome Center: collaborator
• Leandro P. Rizzuto Foundation: collaborator
• Texas Neurology: collaborator
• Northwestern University Les Turner ALS Center: collaborator

Study Sites (8)

Cedars-Sinai Medical Center

Los Angeles, California, 90048, United States

Location

Emory University

Atlanta, Georgia, 30322, United States

Location

Northwestern University Feinberg School of Medicine

Chicago, Illinois, 60611, United States

Location

Johns Hopkins University

Baltimore, Maryland, 21205, United States

Location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Washington University School of Medicine

St Louis, Missouri, 63110, United States

Location

Ohio State University Wexner Medical Center

Columbus, Ohio, 43221, United States

Location

Texas Neurology

Dallas, Texas, 75214, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Motor Neuron Disease; Muscular Atrophy, Spinal; Amyotrophy, monomelic; Disease Progression

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Nicholas J Maragakis, MD

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

• James D Berry, MD

  Massachusetts Generel Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 9, 2015
• First Posted: October 12, 2015
• Study Start: December 1, 2015
• Primary Completion: December 31, 2019
• Study Completion: January 1, 2020
• Last Updated: January 13, 2020

Record last verified: 2020-01

Locations

US (8)