UK Spinal Muscular Atrophy Patient Registry

• ClinicalTrials.gov Identifier: NCT04292574
• Recruitment Status: Recruiting
• First Posted: March 3, 2020
• Last Update Posted: March 25, 2020
• Sponsor: Newcastle University
• Information provided by (Responsible Party): Newcastle University

Study Description

Brief Summary:

Spinal Muscular Atrophy (SMA) is a group of different genetic disorders which manifest themselves in muscle weakness due to loss of motor neurons in the spinal cord and brainstem. SMA is an autosomal recessive disorder therefore all forms of SMA are caused by inheritance of a mutated gene from each parent. If both parents are carriers each infant has a 25% chance of developing the illness. All forms of SMA have an estimated combined incidence of 1 in 6,000 to 1 in 10,000 live births, with a carrier frequency of 1/40-1/60. SMA is the second most common fatal autosomal recessive disorder after cystic fibrosis.

The aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease in the UK. By maintaining a national registry this will help identify potential participants eligible for clinical trials in the future.

Condition or disease	Intervention/treatment
Spinal Muscular Atrophy; SMA	Other: Patient Registry

Detailed Description:

The UK SMA Patient Registry (https://www.treat-nmd.org.uk/registry/) is a joint venture between the John Walton Muscular Dystrophy Research Centre at Newcastle University and the patient group SMA UK (formerly known as the Jennifer Trust, then SMA Support UK). SMA UK is a UK national charity dedicated to supporting people affected by SMA and investing in essential research into causes, treatments and eventually a cure for the condition. The UK SMA Patient Registry is affiliated with the TREAT-NMD Alliance which is an organisation experienced in the design and implementation of rare disease registries.

The purpose of the UK SMA Patient Registry is to register SMA patients from the UK and Ireland so that they may be considered for relevant clinical trials, receive the most up-to-date information regarding standards of care for their disease and help provide the research community with an understanding of SMA prevalence. Anonymised data from patients who register in the UK SMA Patient Registry will also be shared with TREAT-NMD as part of its global network of national SMA registries.

All patients with a confirmed SMA diagnosis (or pending diagnosis) are eligible for inclusion.

Study Design

• Study Type: Observational
• Estimated Enrollment: 700 participants
• Observational Model: Cohort
• Time Perspective: Retrospective
• Official Title: UK Spinal Muscular Atrophy Patient Registry
• Actual Study Start Date: July 13, 2008
• Estimated Primary Completion Date: December 1, 2021
• Estimated Study Completion Date: December 1, 2021

Groups and Cohorts

Group/Cohort	Intervention/treatment
Participants with Spinal Muscular Atrophy	Other: Patient Registry; Participants who have volunteered to participate will complete various questionnaires relating to their conditions.

Outcome Measures

Primary Outcome Measures :

1. Patient questionnaire [ Time Frame: 12 months ]
   Patient reported clinical and genetic confirmation of SMA, symptoms relating to muscle weakness, motor function, medication use, family history and ethnicity. This includes the TREAT-NMD Expanded Core Dataset which includes relevant post-marketing surveillance data items too.

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Participants with SMA will volunteer to participate in this study. The study will be advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences and meetings throughout the UK and Ireland.

Criteria

Inclusion Criteria:

• All patients with a confirmed SMA diagnosis (or pending diagnosis) are eligible for inclusion. Diagnosis will be confirmed via genetic testing results

Exclusion Criteria:

• There are no exclusion criteria for the registry

Contacts and Locations

Contacts

Contact: Registry Project Manager and Curator; 0191 2418640; registry@treat-nmd.org.uk

Contact: Chiara Marini-Bettolo, MD, PhD

Locations

United Kingdom

John Walton Muscular Dystrophy Research Centre; Recruiting

Newcastle Upon Tyne, United Kingdom, NE1 3BZ

Contact: Registry Project Manager and Curator 0191 2418640 registry@treat-nmd.org.uk

Principal Investigator: Chiara Marini-Bettolo, MD, PhD

Sponsors and Collaborators

Newcastle University

Investigators

• Principal Investigator: Chiara Marini-Bettolo, MD, PhD; John Walton Muscular Dystrophy Research Centre

More Information

Additional Information:

UK SMA Patient Registry website 

• Responsible Party: Newcastle University
• ClinicalTrials.gov Identifier: NCT04292574
• Other Study ID Numbers: 19/NE/0354
• First Posted: March 3, 2020
• Last Update Posted: March 25, 2020
• Last Verified: February 2020

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: Undecided

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Newcastle University:

Spinal Muscular Atrophy; SMA; Neuromuscular Diseases; Motor Neuron Disease; Bulbo-Spinal Atrophy, X-Linked; Kennedy Disease; Spinal Muscular Atrophy with Respiratory Distress 1; Distal Spinal Muscular Atrophy; SMA1; SMA2; SMA3; SMA4

Additional relevant MeSH terms:

Muscular Atrophy; Muscular Atrophy, Spinal; Atrophy; Pathological Conditions, Anatomical; Neuromuscular Manifestations; Neurologic Manifestations; Nervous System Diseases; Spinal Cord Diseases; Central Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases