Answer ALS: Individualized Initiative for ALS Discovery

Study Overview
=================
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

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.

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

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

Participation Criteria
=================
Eligibility 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.

Ages Eligible for Study
-----------------
Minimum Age: 18 Years
Maximum Age: 100 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------
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 | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
ALS, stem cell, biomarker, disease progression