Clinical trial NCT06419322: Acceptability, Feasibility, Safety and Efficacy of a Optimized Rehabilitation Program for Treated Patients With Spinal Muscular Atrophy (SMA).
Official title: 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.
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: NA
Conditions: Spinal Muscular Atrophy
Keywords: physiotherapy
rehabilitation
SMA
acceptability
feasibility
United Kingdom
physical therapy
prospective
Spinal Muscular Atrophy
Lead sponsor: University of Oxford
Sponsor class: OTHER
Collaborators: name: Oxford Brookes University
name: Oxford University Hospitals NHS Trust
name: ACE SMA Charity
name: Roche Products Limited
name: Scholar Rock, Inc.
name: Biohaven Therapeutics Ltd.
name: Rally Round Rupert Charity
First posted: 2024-05-17
Enrollment: 14
Sex: ALL
Minimum age (years): 1
Maximum age (years): 10
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: All participants will receive the optimized rehabilitation program (intervention). An external control group will be used to determine the potential efficacy.
Primary purpose: OTHER

Brief summary: 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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: 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.
timeFrame: Baseline visit
measure: 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.
timeFrame: Month 12 (end of study)
Secondary outcomes:
measure: Safety of an optimized rehabilitation program. Measured as the number of serious adverse events (SAE) compared to the year before the baseline.
timeFrame: From baseline to month 12 (end of study)
measure: 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.
timeFrame: Month 6 and Month 12 (end of study).
measure: 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.
timeFrame: Baseline visit: CGI-S.
Other outcomes:
measure: 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.
timeFrame: Baseline, Month 6, Month 12 (end of study).
measure: 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.
timeFrame: Baseline, Month 6, Month 12 (end of study).
measure: 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.
timeFrame: Baseline, Month 6, Month 12 (end of study).
measure: 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.
timeFrame: Baseline, Month 6, Month 12 (end of study).
measure: 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.
timeFrame: Baseline, Month 6, Month 12 (end of study).
measure: 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.
timeFrame: Baseline, Month 6, Month 12 (end of study).
measure: 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.
timeFrame: Baseline, Month 6, Month 12 (end of study).
Locations:
city: Oxford
country: United Kingdom
facility: Oxford Brookes University
state: Oxfordshire
Study officials:
affiliation: University of Oxford, Department of Paediatrics
name: Charlotte Lilien
role: PRINCIPAL_INVESTIGATOR
References: