## Protocol Section
### Identification Module
**NCT ID:** NCT06419322

**Acronym:** ACE SMA

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

#### Organization Study ID Info
**ID:** ACE SMA
#### Organization
**Class:** OTHER
**Full Name:** University of Oxford
#### Secondary ID Infos
**Domain:** University Oxford Hospitals NHS Foundation Trust
**ID:** PID17165
**Type:** OTHER
### Status Module
#### Completion Date
**Date:** 2026-06

**Type:** ESTIMATED

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2024-05-17

**Type:** ACTUAL

**Last Update Submit Date:** 2024-05-16

**Overall Status:** NOT_YET_RECRUITING

#### Primary Completion Date
**Date:** 2026-06

**Type:** ESTIMATED

#### Start Date
**Date:** 2024-06

**Type:** ESTIMATED

**Status Verified Date:** 2024-05

#### Study First Post Date
**Date:** 2024-05-17
**Type:** ACTUAL
**Study First Submit Date:** 2024-05-02
**Study First Submit QC Date:** 2024-05-16
### Sponsor Collaborators Module

#### Collaborators

**Class:** OTHER

**Name:** Oxford Brookes University

**Class:** OTHER

**Name:** Oxford University Hospitals NHS Trust

**Class:** UNKNOWN

**Name:** ACE SMA Charity

**Class:** UNKNOWN

**Name:** Roche Products Limited

**Class:** INDUSTRY

**Name:** Scholar Rock, Inc.

**Class:** INDUSTRY

**Name:** Biohaven Therapeutics Ltd.

#### Lead Sponsor

**Class:** OTHER

**Name:** University of Oxford

#### Responsible Party

**Type:** SPONSOR

### Oversight Module

**Is FDA Regulated Device:** False

**Is FDA Regulated Drug:** False

**Oversight Has DMC:** False

### Description Module

**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.

### Conditions Module

**Conditions:**

- Spinal Muscular Atrophy

**Keywords:**

- physiotherapy

- rehabilitation

- SMA

- acceptability

- feasibility

- United Kingdom

- physical therapy

- prospective

- Spinal Muscular Atrophy

### Design Module

#### Design Info

**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.

##### Masking Info

**Masking:** NONE

**Primary Purpose:** OTHER

#### Enrollment Info

**Count:** 14

**Type:** ESTIMATED

**Phases:**

- NA

**Study Type:** INTERVENTIONAL

### Arms Interventions Module

#### Arm Group 1

**Intervention Names:**

- Other: Optimized rehabilitation program

**Label:** Treated cohort

**Type:** OTHER

### Interventions

#### Intervention 1

**Arm Group Labels:**

- Treated cohort

**Description:** Consisting of: goal-oriented rehabilitation, hands on physiotherapy sessions and home use of SMA approved rehabilitation device.

**Name:** Optimized rehabilitation program

**Type:** OTHER

### Outcomes Module

#### Other Outcomes

**Description:** Evaluation potential therapeutic benefits through assessment of motor functional scales.

**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.

**Time Frame:** Baseline, Month 6, Month 12 (end of study).

**Description:** Evaluation potential therapeutic benefits through assessment of motor functional scales.

**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.

**Time Frame:** Baseline, Month 6, Month 12 (end of study).

**Description:** Evaluation potential therapeutic benefits through assessment of motor functional scales.

**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.

**Time Frame:** Baseline, Month 6, Month 12 (end of study).

**Description:** Evaluation potential therapeutic benefits through assessment of motor functional scales.

**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.

**Time Frame:** Baseline, Month 6, Month 12 (end of study).

**Description:** Evaluation potential therapeutic benefits through assessment of motor functional scales.

**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.

**Time Frame:** Baseline, Month 6, Month 12 (end of study).

**Description:** Evaluation potential therapeutic benefits through assessment of motor functional scales.

**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.

**Time Frame:** Baseline, Month 6, Month 12 (end of study).

**Description:** Evaluation potential therapeutic benefits through assessment of motor functional scales.

**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.

**Time Frame:** Baseline, Month 6, Month 12 (end of study).

#### Primary Outcomes

**Description:** Number of eligible patients who accepted to participate in the study compared to the number of eligible patients who have refused to participate.

**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.

**Time Frame:** Baseline visit

**Description:** Number of patients who complete the study compared to the number of included patients.

**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.

**Time Frame:** Month 12 (end of study)

#### Secondary Outcomes

**Description:** Number of Serious Adverse Events (SAEs).

**Measure:** Safety of an optimized rehabilitation program. Measured as the number of serious adverse events (SAE) compared to the year before the baseline.

**Time Frame:** From baseline to month 12 (end of study)

**Description:** Potential effects of the optimized rehabilitation program on patients experience.

**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.

**Time Frame:** Month 6 and Month 12 (end of study).

**Description:** Potential effects of the optimized rehabilitation program on patients experience.

**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.

**Time Frame:** Baseline visit: CGI-S.

### Eligibility Module

**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.

**Maximum Age:** 10 Years

**Minimum Age:** 1 Year

**Sex:** ALL

**Standard Ages:**

- CHILD

### Contacts Locations Module

#### Central Contacts

**Contact 1:**

**Email:** ace.sma@paediatrics.ox.ac.uk

**Name:** Serena Hill

**Phone:** 01865618799

**Role:** CONTACT

**Contact 2:**

**Email:** charlotte.lilien@paediatrics.ox.ac.uk

**Name:** Charlotte Lilien

**Phone:** 01865618799

**Role:** CONTACT

#### Locations

**Location 1:**

**City:** Oxford

**Contacts:**

***Contact 1:***

- **Email:** ace.sma@paediatrics.ox.ac.uk

- **Name:** Serena Hill

- **Phone:** 01865618799

- **Role:** CONTACT

***Contact 2:***

- **Name:** Charlotte Lilien

- **Role:** PRINCIPAL_INVESTIGATOR

**Country:** United Kingdom

**Facility:** Oxford Brookes University

**State:** Oxfordshire

**Zip:** OX3 0BP

#### Overall Officials

**Official 1:**

**Affiliation:** University of Oxford, Department of Paediatrics

**Name:** Charlotte Lilien

**Role:** PRINCIPAL_INVESTIGATOR

### IPD Sharing Statement Module

**IPD Sharing:** NO

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000020763

- Term: Pathological Conditions, Anatomical

- ID: D000020879

- Term: Neuromuscular Manifestations

- ID: D000009461

- Term: Neurologic Manifestations

- ID: D000009422

- Term: Nervous System Diseases

- ID: D000013118

- Term: Spinal Cord Diseases

- ID: D000002493

- Term: Central Nervous System Diseases

- ID: D000016472

- Term: Motor Neuron Disease

- ID: D000019636

- Term: Neurodegenerative Diseases

- ID: D000009468

- Term: Neuromuscular Diseases

### Condition Browse Module - Browse Branches

- Abbrev: BC23

- Name: Symptoms and General Pathology

- Abbrev: All

- Name: All Conditions

- Abbrev: BC10

- Name: Nervous System Diseases

- Abbrev: BC18

- Name: Nutritional and Metabolic Diseases

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M4589

- Name: Atrophy

- Relevance: HIGH

- As Found: Atrophy

- ID: M12090

- Name: Muscular Atrophy

- Relevance: HIGH

- As Found: Muscular Atrophy

- ID: M12091

- Name: Muscular Atrophy, Spinal

- Relevance: HIGH

- As Found: Spinal Muscular Atrophy

- ID: M22519

- Name: Pathological Conditions, Anatomical

- Relevance: LOW

- As Found: Unknown

- ID: M22619

- Name: Neuromuscular Manifestations

- Relevance: LOW

- As Found: Unknown

- ID: M12404

- Name: Neurologic Manifestations

- Relevance: LOW

- As Found: Unknown

- ID: M15915

- Name: Spinal Cord Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M5742

- Name: Central Nervous System Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M18879

- Name: Motor Neuron Disease

- Relevance: LOW

- As Found: Unknown

- ID: M4024

- Name: Amyotrophic Lateral Sclerosis

- Relevance: LOW

- As Found: Unknown

- ID: M21558

- Name: Neurodegenerative Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M12411

- Name: Neuromuscular Diseases

- Relevance: LOW

- As Found: Unknown

- ID: T5342

- Name: Spinal Muscular Atrophy

- Relevance: HIGH

- As Found: Spinal Muscular Atrophy

- ID: T349

- Name: Amyotrophic Lateral Sclerosis

- Relevance: LOW

- As Found: Unknown

### Condition Browse Module - Meshes

- ID: D000009133

- Term: Muscular Atrophy

- ID: D000009134

- Term: Muscular Atrophy, Spinal

- ID: D000001284

- Term: Atrophy

### Misc Info Module

- Version Holder: 2024-05-31
