Rehabilitation in SOD1 ALS Treated With Tofersen

• Conditions: Amyotrophic Lateral Sclerosis; Familial Amyotrophic Lateral Sclerosis; Motor Neuron Disease, Familial; Lou Gehrig Disease; Motor Neuron Disease
• Interventions: Behavioral: Rehabilitation

• Registration Number: NCT05725759
• Lead Sponsor: Washington University School of Medicine

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2022-11-08
• Study First Submitted: 2023-02-01
• Study First Submitted QC: 2023-02-10
• Study First Posted: 2023-02-13
• Status Verified: 2024-01
• Last Update Submitted: 2024-01-26
• Last Update Posted: 2024-01-30
• Primary Completion: 2024-12
• Study Completion: 2024-12

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 10

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Rehabilitation Arm	Rehabilitation	Participants will participate in outpatient physical and/or occupational therapies while participating in the tofersen early access program (EAP)

Primary Outcome Measures

Name	Time	Method
Change from baseline in Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (ALSFRS)	12 months	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.

Secondary Outcome Measures

Name	Time	Method
1. Change from baseline in Handheld Dynamometry (HHD)	12 months	Quantitative muscle strength will be evaluated using HHD of multiple muscles using standard participant positioning.
Change from baseline in Maximal Inspiratory Pressure (MIP)	12 months
Change from baseline in motor Functional Independence Measure (motor FIM)	12 months	Measures level of disability and indicates level of assistance required to perform activities of daily living.
Change from baseline in Fatigue Severity Scale (FSS)	12 months	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
2. Change from baseline in Rasch-Built Overall Amyotrophic Lateral Sclerosis Functional Rating (ROADS)	12 months	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.
Change from baseline in Modified Ashworth Scale (MAS)	12 months	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
3. Change from baseline in ALS Assessment Questionnaire, 5-item (ALSAQ-5)	12 months	Quality of life will be measured using the 5-item Amyotrophic Lateral Sclerosis Assessment Questionnaire (ALSAQ-5) patient-reported outcome (PRO)
Change from baseline in Slow Vital Capacity (SVC)	12 months

Trial Locations

Locations (1)

Washington University School of Medicine; 🇺🇸 Saint Louis, Missouri, United States