UK Spinal Muscular Atrophy Patient Registry
UK Spinal Muscular Atrophy Patient Registry
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.
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.
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