UK SMA Patient Registry

Study Overview
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Brief Summary
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Spinal muscular atrophy (SMA) is a form of motor neuron disease, most commonly caused by a mutation in the survival motor neuron 1 gene (SMN1) which results in a wide disease spectrum affecting children and adults. It is an autosomal recessive disorder and is therefore caused by inheritance of a mutated gene from each parent. 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 to 1/60. The patient registry aims to facilitate a questionnaire-based research study in order to better characterise and understand the disease in the UK and in Ireland. Entry is via self-registration over a secure internet connection (https://www.sma-registry.org.uk/). Online, patients are asked to read an information sheet about the research project and then indicate their consent to demonstrate willingness to participate. Following online consent, subjects will be entered into the registry. This is an on-going database and all participants are invited to update their information on a biannual basis.

Detailed Description
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Participants are asked to provide information by completing online questionnaires. The medical questionnaire asks specific questions about their SMA diagnosis and their condition, including their motor function, requirement of assistance for feeding or breathing, scoliosis, contractures, hospitalisations, other illnesses, medications and participation in clinical trials. Additional short questionnaires collect information about patients' experience of daily life, their activities and quality of life, also known as patient-reported outcome measures or PROMs. Participants are asked to forward a copy of their genetic results to the registry. The registry collaborates closely with the clinical networks SMA REACH UK (paediatric) and Adult SMA REACH and with TREAT-NMD Alliance. The SMA REACH networks collect clinician-reported medical and functional assessment data from consented SMA patients who attend participating neuromuscular clinics in the UK. Links between the SMA REACH clinical databases and the UK SMA Patient Registry have been developed to enable the consented sharing of limited and specific data. Currently, linkage enables the sharing of patient-level PROMs data collected by the registry with each patient's SMA REACH clinic and with the SMA REACH coordination teams. At clinic level, the data informs patient care. At project coordination level, the data is aligned with clinical data collected by SMA REACH. It is then anonymised, analysed and reported to regulatory authorities as part of managed access agreements (MAA) for SMA therapies. Future linkage will enable patient registry participants to view elements of their own clinical data entered into the SMA REACH database by their doctor.

Official Title
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Spinal Muscular Atrophy Patient Registry of the United Kingdom and Ireland

Conditions
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Spinal Muscular Atrophy, SMA

Intervention / Treatment
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* Other: Patient Registry


Participation Criteria
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Eligibility Criteria
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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
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Participants with Spinal Muscular Atrophy<br> | Other: Patient Registry<br>* Participants who have volunteered to participate will complete various questionnaires relating to their conditions.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Patient questionnaire | Patient-reported clinical and genetic confirmation of SMA, symptoms relating to muscle weakness, motor function, medication and family history. The patient registry collects the TREAT-NMD Expanded SMA Core Dataset, which includes post-marketing surveillance data items, and patient-reported outcome measures (PROMs). | 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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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, SMA type 1, SMA type 2, SMA type 3, SMA type 4, 5q SMA