UK Spinal Muscular Atrophy Patient Registry
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|ClinicalTrials.gov Identifier: NCT04292574|
Recruitment Status : Recruiting
First Posted : March 3, 2020
Last Update Posted : March 25, 2020
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|
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|
|Estimated Enrollment :||700 participants|
|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|
|Participants with Spinal Muscular Atrophy||
Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their conditions.
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04292574
|Contact: Registry Project Manager and Curator||0191 firstname.lastname@example.org|
|Contact: Chiara Marini-Bettolo, MD, PhD|
|John Walton Muscular Dystrophy Research Centre||Recruiting|
|Newcastle Upon Tyne, United Kingdom, NE1 3BZ|
|Contact: Registry Project Manager and Curator 0191 2418640 email@example.com|
|Principal Investigator: Chiara Marini-Bettolo, MD, PhD|
|Principal Investigator:||Chiara Marini-Bettolo, MD, PhD||John Walton Muscular Dystrophy Research Centre|