UK Spinal Muscular Atrophy Patient Registry

study id #: NCT04292574

condition: Spinal Muscular Atrophy, SMA

status: Recruiting

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.

intervention: Patient Registry

results: https://clinicaltrials.gov/ct2/show/results/NCT04292574

last updated: February 04, 2022

start date: July 13, 2008

estimated completion: December 1, 2021

last updated: March 16, 2021

size / enrollment: 700

study 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.

primary outcomes:

• Patient questionnaire
  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.
• 12 months
  

inclusion criteria:

exclusion criteria: Criteria:

There are no exclusion criteria for the registry

sponsor: Newcastle University

contacts: Registry Project Manager And Curator, 0191 2418640, [email protected]

investigators: Chiara Marini-Bettolo, MD, PhD,John Walton Muscular Dystrophy Research Centre

trial center locations: United Kingdom

• UK Spinal Muscular Atrophy Patient Registry
  Registry Project Manager And Curator, 0191 2418640, [email protected]