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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
Sponsor:
Information provided by (Responsible Party):
Newcastle University

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.


Condition or disease Intervention/treatment
Spinal Muscular Atrophy SMA Other: Patient Registry

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.

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Study Type : Observational
Estimated Enrollment : 700 participants
Observational Model: Cohort
Time Perspective: Retrospective
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


Group/Cohort Intervention/treatment
Participants with Spinal Muscular Atrophy Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their conditions.




Primary Outcome Measures :
  1. 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.



Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
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

Information from the National Library of Medicine

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


Contacts
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Contact: Registry Project Manager and Curator 0191 2418640 registry@treat-nmd.org.uk
Contact: Chiara Marini-Bettolo, MD, PhD

Locations
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United Kingdom
John Walton Muscular Dystrophy Research Centre Recruiting
Newcastle Upon Tyne, United Kingdom, NE1 3BZ
Contact: Registry Project Manager and Curator    0191 2418640    registry@treat-nmd.org.uk   
Principal Investigator: Chiara Marini-Bettolo, MD, PhD         
Sponsors and Collaborators
Newcastle University
Investigators
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Principal Investigator: Chiara Marini-Bettolo, MD, PhD John Walton Muscular Dystrophy Research Centre
Additional Information:
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Responsible Party: Newcastle University
ClinicalTrials.gov Identifier: NCT04292574    
Other Study ID Numbers: 19/NE/0354
First Posted: March 3, 2020    Key Record Dates
Last Update Posted: March 25, 2020
Last Verified: February 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Newcastle University:
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
SMA1
SMA2
SMA3
SMA4
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases