## Protocol Section
### Identification Module
**NCT ID:** NCT03520179

**Acronym:** SMA-REACH

**Brief Title:** Improving Standards of Care and Translational Research in Spinal Muscular Atrophy (SMA)

**Official Title:** Improving Standards of Care and Translational Research in Spinal Muscular Atrophy (SMA)

#### Organization Study ID Info
**ID:** 11DN15
#### Organization
**Class:** OTHER
**Full Name:** Great Ormond Street Hospital for Children NHS Foundation Trust
### Status Module
#### Completion Date
**Date:** 2023-08-12

**Type:** ESTIMATED

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2022-08-17

**Type:** ACTUAL

**Last Update Submit Date:** 2022-08-16

**Overall Status:** RECRUITING

#### Primary Completion Date
**Date:** 2023-08-12

**Type:** ESTIMATED

#### Start Date
**Date:** 2013-12-17

**Type:** ACTUAL

**Status Verified Date:** 2022-08

#### Study First Post Date
**Date:** 2018-05-09
**Type:** ACTUAL
**Study First Submit Date:** 2018-01-30
**Study First Submit QC Date:** 2018-04-26
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** OTHER

**Name:** Great Ormond Street Hospital for Children NHS Foundation Trust

#### 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 SMA REACH UK Network is a national and international partnership between doctors and therapists involved in the care of children and adults with Spinal Muscular Atrophy. This network is supported by Biogen and SMA UK.

**Detailed Description:** The investigators aim is to establish a Spinal Muscular Atrophy (SMA) National Platform to improve UK standards of care, manage national and International clinical trials and facilitate translational research for this common neuromuscular disease.

To achieve this purpose investigators will start to systematically collect longitudinal validated outcome measures for SMA children followed at GOSH, the largest cohort followed in UK, and pilot and update novel outcome measures. This will be done ensuring that data collected are not only clinically meaningful but also robust for subsequent use in clinical trials.

In collaboration with the MRC Neuromuscular Centre in London and Newcastle, investigators will link the existing registries and the longitudinal data collection of outcome measures and develop a hub and bespoke platform model linking the other paediatric UK centres involved in the clinical management of SMA patients. This UK SMA Platform (SMA REACH UK) will be a unique infrastructure containing the largest comprehensive longitudinal series of SMA patient data in the UK; the data collected will be agreed between the relevant other UK centres stakeholders and will take into consideration other international initiatives with historical success in SMA treatment and research.

Ongoing analysis including modern psychometric techniques will ensure that the functional data collected in the UK SMA population meets the high statistical standards required for the data to inform natural history studies and be usable as an outcome measure for clinical trials.

In addition SMA REACH UK is in the position to be involved in an international initiative called ISMAC (International SMA Consortium) with two prestigious Networks: the PNCRN in the United States (Principal Investigator Richard Finkel) and the Italian SMA Network (Principle Investigator Eugenio Mercuri). The Consortium has been contacted by the Biotechnology Company; Biogen with strong interest in collecting anonymised natural history data on the entire spectrum of SMA severity from routine clinical visits. The main data to be collected, including medical information and physiotherapy assessments, were agreed across the three Networks and will be slightly more extended than the current dataset collected at each Centre. The data collected with the new dataset will be collated on a separate IT platform which will contain anonymised clinical and physiotherapy data from patients who have consented to take part, and will be accessible to Biogen and can be shared with third parties (pharmaceuticals, academic and government institutions) in a strictly anonymised form. The ownership of the data will remain with the PIs at each centre.

### Conditions Module

**Conditions:**

- Spinal Muscular Atrophy

### Design Module

#### Design Info

**Observational Model:** COHORT

**Time Perspective:** CROSS_SECTIONAL

#### Enrollment Info

**Count:** 600

**Type:** ESTIMATED

**Patient Registry:** True

**Study Type:** OBSERVATIONAL

**Target Duration:** 18 Months

### Arms Interventions Module

#### Arm Group 1

**Description:** genetically confirmed SMA

**Label:** SMA TYPE 1

#### Arm Group 2

**Description:** genetically confirmed SMA

**Label:** SMA TYPE 2

#### Arm Group 3

**Description:** genetically confirmed SMA, Ambulant and non-ambulant

**Label:** SMA TYPE 3

### Outcomes Module

#### Primary Outcomes

**Description:** This is a scale used for the assessment of movement and function of very weak infants with SMA type 1. It consists of 16 items of motor function graded 0-4 with a maximum achievable score of 64.

**Measure:** Physiotherapy assessment using The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)

**Time Frame:** 1 year

**Description:** This scale assesses motor performance in infants born pre-term to 4 months of age. It consists of 29 items, with 3 item sets (screening, easy and hard sets).

**Measure:** Physiotherapy assessment using the Test of Infant Motor Performance Screening Items (TIMPSI)

**Time Frame:** 1 year

#### Secondary Outcomes

**Description:** The patients will be selected depending on availability and willingness to participate.The interviews will be performed at the most convenient time for the patient. They will be done either face to face, through a phone call or videoconference.

**Measure:** Patient´s perception about the condition, interventions performed and Standards of Care assessed by patient interviews

**Time Frame:** 1 year

**Description:** This is a questionnaire which assesses overall health, pain and ability to participate in activities of daily living. It can be scored relating to eight scales - upper extremity and physical function, transfers and basic mobility, sports/physical functioning, pain/comfort, treatment expectations, happiness, satisfaction with symptoms, global functioning.

**Measure:** Patients perception about the condition, interventions performed and Standards of Care assessed using the Paediatric Outcomes Data Collection Instrument (PODCI)

**Time Frame:** 1 year

**Description:** This is a questionnaire to be used for non-ambulant patients and consists of a series of 17 questions reporting on physical function including ability to transfer, cough, swallowing, fatigue and arm function.

**Measure:** Patients perception about the condition, interventions performed and Standards of Care assessed using the Egan Klassifikation Scale (EK2)

**Time Frame:** 1 year

### Eligibility Module

**Eligibility Criteria:** Inclusion Criteria:

* It will be genetically confirmed SMA

Exclusion Criteria:

* Involvement in clinical trials is not an exclusion criterion nor having had surgical procedures. Patients who are participating in clinical trials with novel treatments will also be included in the database although the data from this subgroup won't be analysed in the natural history study, nor shared with pharmaceutical companies and other third parties as part of the ISMAC collaboration.

**Maximum Age:** 99 Years

**Minimum Age:** 0 Months

**Sampling Method:** PROBABILITY_SAMPLE

**Sex:** ALL

**Standard Ages:**

- CHILD

- ADULT

- OLDER_ADULT

**Study Population:** Patients with genetically confirmed SMA types 0, I, II and III (ambulant and non-ambulant) followed at each open and recruiting neuromuscular centre.

### Contacts Locations Module

#### Central Contacts

**Contact 1:**

**Email:** s.samsuddin@ucl.ac.uk

**Name:** Salma Samsuddin

**Role:** CONTACT

**Contact 2:**

**Email:** m.scoto@ucl.ac.uk

**Name:** MariaCristina Scoto

**Role:** CONTACT

#### Locations

**Location 1:**

**City:** London

**Contacts:**

***Contact 1:***

- **Email:** s.samsuddin@ucl.ac.uk

- **Name:** Salma Samsuddin

- **Role:** CONTACT

***Contact 2:***

- **Name:** Francesco Muntoni

- **Role:** PRINCIPAL_INVESTIGATOR

**Country:** United Kingdom

**Facility:** Dubowitz Neuromuscular Centre

**Status:** RECRUITING

**Zip:** WC1N 1EH

### 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: BC10

- Name: Nervous System Diseases

- Abbrev: BC23

- Name: Symptoms and General Pathology

- Abbrev: All

- Name: All Conditions

- Abbrev: BC18

- Name: Nutritional and Metabolic Diseases

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- 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: M4589

- Name: Atrophy

- Relevance: HIGH

- As Found: 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: 2024-05-24
