Rehabilitation in SOD1 ALS Treated With Tofersen

The Effects of Rehabilitation on Functional Outcomes in Patients With SOD1 ALS Treated With Tofersen

The primary objective of this study is to document and describe the effects of a personalized rehabilitation program for patients with SOD1 ALS participating in the tofersen expanded access program. Participants currently receiving tofersen treatment will be referred to outpatient physical and/or occupational therapy. Participants will have an initial assessment performed and an individualized rehabilitation program will be prescribed. Each participant is encouraged to follow the prescribed recommendations that will include scheduled outpatient therapy sessions, functional assessments, and/or a home-based rehabilitation program. Functional assessments will be done at a minimum of every three months.

Study Overview

• Status: Enrolling by invitation
• Conditions: Motor Neuron Disease; Amyotrophic Lateral Sclerosis; Lou Gehrig Disease; Familial Amyotrophic Lateral Sclerosis; Motor Neuron Disease, Familial
• Intervention / Treatment: Behavioral: Rehabilitation

• Study Type: Observational
• Enrollment (Estimated): 10
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Missouri
    • Saint Louis, Missouri, United States, 63110
      • Washington University School of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with SOD1 ALS

Description

Inclusion Criteria:

• Confirmed diagnosis of ALS with an SOD1 mutation
• Current enrollment in the tofersen expanded access program
• Age greater than 18 years
• Medically able to participate in outpatient physical therapy and/or home-based rehabilitation, as determined by the treating health care provider

Exclusion Criteria:

• Any comorbidities or conditions that, in the opinion of the treating healthcare provider, would unacceptably increase the risk of participation in outpatient physical therapy and/or home-based rehabilitation

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Rehabilitation Arm; Participants will participate in outpatient physical and/or occupational therapies while participating in the tofersen early access program (EAP)	Behavioral: Rehabilitation; Particapants currently receiving tofersen treatment will be referred to outpatient physical and/or occupational therapy.; Other Names: physical therapy; occupational therapy

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change from baseline in Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (ALSFRS)	ALSFRS-R measures functional disease severity in four functional domains, bulbar function, gross motor skills, fine motor skills, and respiratory. The assessment contains 12 questions scored from 0 (no function) to 4 (full function), with a total possible score of 48, which will indicate the highest level of function.	12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
1. Change from baseline in Handheld Dynamometry (HHD)	Quantitative muscle strength will be evaluated using HHD of multiple muscles using standard participant positioning.	12 months
2. Change from baseline in Rasch-Built Overall Amyotrophic Lateral Sclerosis Functional Rating (ROADS)	ROADS measures disability across multiple daily activities. For each question, response options are as follows: 0=unable to perform; 1=abnormal, able to perform but with difficulty; and 2=normal, able to perform without difficulty.	12 months
3. Change from baseline in ALS Assessment Questionnaire, 5-item (ALSAQ-5)	Quality of life will be measured using the 5-item Amyotrophic Lateral Sclerosis Assessment Questionnaire (ALSAQ-5) patient-reported outcome (PRO)	12 months
Change from baseline in motor Functional Independence Measure (motor FIM)	Measures level of disability and indicates level of assistance required to perform activities of daily living.	12 months
Change from baseline in Modified Ashworth Scale (MAS)	The MAS is 6-point scale that that grades spasticity, scored from 0 to 4, where 0 is normal muscle tone and 4 is severe increase in muscle tone	12 months
Change from baseline in Slow Vital Capacity (SVC)		12 months
Change from baseline in Maximal Inspiratory Pressure (MIP)		12 months
Change from baseline in Fatigue Severity Scale (FSS)	FSS measures how fatigue interferes with activities. It is a 9-item questionnaire scored on a 7-point scale, 1 = strongly disagree to 7 = strongly agree, and the higher the score equal to the greater the severity of fatigue	12 months

Collaborators and Investigators

• Sponsor: Washington University School of Medicine

Publications and helpful links

Helpful Links

• Washington University ALS Center website

Study record dates

Study Major Dates

• Study Start (Actual): November 8, 2022
• Primary Completion (Estimated): December 1, 2024
• Study Completion (Estimated): December 1, 2024

Study Registration Dates

• First Submitted: February 1, 2023
• First Submitted That Met QC Criteria: February 10, 2023
• First Posted (Actual): February 13, 2023

Study Record Updates

• Last Update Posted (Actual): January 30, 2024
• Last Update Submitted That Met QC Criteria: January 26, 2024
• Last Verified: January 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Sclerosis; Motor Neuron Disease; Amyotrophic Lateral Sclerosis
• Other Study ID Numbers: 202208170

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No