Acceptability, Feasibility, Safety and Efficacy of a Optimized Rehabilitation Program for Treated Patients With Spinal Muscular Atrophy (SMA) (ACE SMA) (ACE SMA)

A Monocentric, Prospective and Longitudinal Study Investigating the Acceptability, Feasibility, Safety and Efficacy of an Optimized Rehabilitation Program for Treated Patients With SMA Compared to the Current Rehabilitation Program in United Kingdom: ACE SMA

The goal of this study is to investigate the acceptability, feasibility, safety and efficacy of an optimized rehabilitation program for treated patients with spinal muscular atrophy (SMA) compared to the current rehabilitation program in the United Kingdom. The aim is to provide patients with more hands on physiotherapy and access to rehabilitation devices at home to support parents currently providing rehabilitation on their own.

Study Overview

• Status: Not yet recruiting
• Conditions: Spinal Muscular Atrophy
• Intervention / Treatment: Other: Optimized rehabilitation program

Detailed Description

The main study objective is to investigate whether an optimized rehabilitation program would be accepted and is feasible within the SMA patient community.

The optimized program will comprise of goal orientated rehabilitation with more frequent hands on physiotherapy (every 2 weeks) as well as a SMA approved rehabilitation device used at home on a weekly basis, to provide the most appropriate therapy for each individual patient. All study participants will receive the optimized rehabilitation program over 12 months. An external control group will be used to determine the potential efficacy.

Research study visits will take place at baseline, month 6 and month 12. At these visits a general physical exam will be undertaken alongside collecting the participant and carer perception, satisfaction and compliancy of the rehabilitation program. Motor function assessments according to age and ambulatory status will be assessed to help evaluate potential therapeutic benefits.

• Study Type: Interventional
• Enrollment (Estimated): 14
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Serena Hill; Phone Number: 01865618799; Email: ace.sma@paediatrics.ox.ac.uk
• Study Contact Backup: Name: Charlotte Lilien; Phone Number: 01865618799; Email: charlotte.lilien@paediatrics.ox.ac.uk

Study Locations

• United Kingdom
  • Oxfordshire
    • Oxford, Oxfordshire, United Kingdom, OX3 0BP
      • Oxford Brookes University
      • Contact: Serena Hill; Phone Number: 01865618799; Email: ace.sma@paediatrics.ox.ac.uk
      • Principal Investigator: Charlotte Lilien

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

Description

Patient participant Eligibility Criteria:

Inclusion Criteria:

• Genetically confirmed SMA considered as a non-sitter, sitter or walker
• Post-symptomatically treated and on stable dose for 12 months with any disease-modifying market-approved drug
• Patients from 1-10 years of age at baseline
• Parent(s)/legal guardian(s) of patients less than 16 years of age must provide written informed consent prior to the patient's participation in the study
• Willing and able to comply with all protocol requirements and procedures.

Exclusion Criteria:

The participant may not enter the trial if ANY of the following apply:

• Any acute or chronic condition which, as assessed by the investigator, significantly interferes with the rehabilitation of the patient
• Need of diurnal and/or invasive ventilation, naps excluded
• Currently enrolled in a treatment study; or treatment with an experimental therapy
• Any surgical and/or medical intervention, according to the investigator, 3 months before baseline and/or during the study participation.

Carer (considered as participant) Eligibility Criteria:

Inclusion Criteria:

• Willing and able to comply with all protocol requirements and procedures
• Carer's child has been included in study.

Exclusion Criteria:

• No exclusion criteria.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Treated cohort	Other: Optimized rehabilitation program; Consisting of: goal-oriented rehabilitation, hands on physiotherapy sessions and home use of SMA approved rehabilitation device.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Acceptability of an optimized rehabilitation program. Measured as number of eligible patients who accepted to participate in the study compared to the number of eligible patients who have refused to participate. Endpoint: 70% of acceptability.	Number of eligible patients who accepted to participate in the study compared to the number of eligible patients who have refused to participate.	Baseline visit
Feasibility of an optimized rehabilitation program. Measured as the number of patients who complete the study compared to the number of included patients. Endpoint: 60% of feasibility.	Number of patients who complete the study compared to the number of included patients.	Month 12 (end of study)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Safety of an optimized rehabilitation program. Measured as the number of serious adverse events (SAE) compared to the year before the baseline.	Number of Serious Adverse Events (SAEs).	From baseline to month 12 (end of study)
Carer perception and satification measured through the Clinical Global Impression scale - Improvement (CGI I). Comparison of CGI-S score with CGI-I score of the treated group.	Potential effects of the optimized rehabilitation program on patients experience.	Month 6 and Month 12 (end of study).
Carer perception and satification measured through the Clinical Global Impression scale - Severity (CGI-S). Comparison of CGI-S score with CGI-I score of the treated group.	Potential effects of the optimized rehabilitation program on patients experience.	Baseline visit: CGI-S.

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): maximum score is 64 points. Measuring a change in functional total score between the treated study cohort and a control dataset.	Evaluation potential therapeutic benefits through assessment of motor functional scales.	Baseline, Month 6, Month 12 (end of study).
The Hammersmith Infant Neurological Examination section 2 (HINE-2): maximum score is 26 points. Measuring a change in functional total score between the treated study cohort and a control dataset.	Evaluation potential therapeutic benefits through assessment of motor functional scales.	Baseline, Month 6, Month 12 (end of study).
Revised Hammersmith Scale (RHS). The maximum score for RHS is 69 points. Measuring a change in functional total score between the treated study cohort and a control dataset.	Evaluation potential therapeutic benefits through assessment of motor functional scales.	Baseline, Month 6, Month 12 (end of study).
Hammersmith Functional Motor Scale Expanded (HFMSE) combined assessment. The maximum score is 66 points. Measuring a change in functional total score between the treated study cohort and a control dataset.	Evaluation potential therapeutic benefits through assessment of motor functional scales.	Baseline, Month 6, Month 12 (end of study).
World Health organization (WHO) developmental milestones: the final result is the highest achievable motor milestone. Measuring a change in functional total score between the treated study cohort and a control dataset.	Evaluation potential therapeutic benefits through assessment of motor functional scales.	Baseline, Month 6, Month 12 (end of study).
Revised upper limb module (RULM): from 30 months of age: maximum score is 37 points. Measuring a change in functional total score between the treated study cohort and a control dataset.	Evaluation potential therapeutic benefits through assessment of motor functional scales.	Baseline, Month 6, Month 12 (end of study).
6 Minute Walk test (6MWT): from 4 years of age. Measuring a change in functional total score between the treated study cohort and a control dataset.	Evaluation potential therapeutic benefits through assessment of motor functional scales.	Baseline, Month 6, Month 12 (end of study).

Collaborators and Investigators

• Sponsor: University of Oxford
• Collaborators: Oxford Brookes University; Oxford University Hospitals NHS Trust; Scholar Rock, Inc.; Biohaven Therapeutics Ltd.; Roche Products Limited; ACE SMA Charity
• Investigators: Principal Investigator: Charlotte Lilien, University of Oxford, Department of Paediatrics

Study record dates

Study Major Dates

• Study Start (Estimated): June 1, 2024
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026

Study Registration Dates

• First Submitted: May 2, 2024
• First Submitted That Met QC Criteria: May 16, 2024
• First Posted (Actual): May 17, 2024

Study Record Updates

• Last Update Posted (Actual): May 17, 2024
• Last Update Submitted That Met QC Criteria: May 16, 2024
• Last Verified: May 1, 2024

More Information

Terms related to this study

• Keywords: rehabilitation; feasibility; physiotherapy; physical therapy; prospective; Spinal Muscular Atrophy; SMA; acceptability; United Kingdom
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: ACE SMA; PID17165 (Other Identifier: University Oxford Hospitals NHS Foundation Trust)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

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