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

Tracking Information

• First Submitted Date: February 28, 2020
• First Posted Date: March 3, 2020
• Last Update Posted Date: March 25, 2020
• Actual Study Start Date: July 13, 2008
• Estimated Primary Completion Date: December 1, 2021 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: February 28, 2020)

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.

• Original Primary Outcome Measures: Same as current
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: UK Spinal Muscular Atrophy Patient Registry
• Official Title: UK Spinal Muscular Atrophy Patient Registry

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.

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 Type: Observational
• Study Design: Observational Model: Cohort; Time Perspective: Retrospective
• Target Follow-Up Duration: Not Provided
• Biospecimen: Not Provided
• 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.

Condition

• Spinal Muscular Atrophy
• SMA

Intervention

Other: Patient Registry

Participants who have volunteered to participate will complete various questionnaires relating to their conditions.

Study Groups/Cohorts

Participants with Spinal Muscular Atrophy

Intervention: Other: Patient Registry

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: February 28, 2020): 700
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: December 1, 2021
• Estimated Primary Completion Date: December 1, 2021 (Final data collection date for primary outcome measure)

Eligibility 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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: Child, Adult, Older Adult
• Accepts Healthy Volunteers: No

Contacts

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

Contact: Chiara Marini-Bettolo, MD, PhD

• Listed Location Countries: United Kingdom

Administrative Information

• NCT Number: NCT04292574
• Other Study ID Numbers: 19/NE/0354
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

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

IPD Sharing Statement

• Plan to Share IPD: Undecided

• Responsible Party: Newcastle University
• Study Sponsor: Newcastle University
• Collaborators: Not Provided

Investigators

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

• PRS Account: Newcastle University
• Verification Date: February 2020