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UK Spinal Muscular Atrophy Patient Registry

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
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

Tracking Information
First Submitted Date February 28, 2020
First Posted Date March 3, 2020
Last Update Posted Date March 25, 2020
Actual Study Start Date July 13, 2008
Estimated Primary Completion Date December 1, 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 28, 2020)
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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title UK Spinal Muscular Atrophy Patient Registry
Official Title UK Spinal Muscular Atrophy Patient Registry
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.

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.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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.
Condition
  • Spinal Muscular Atrophy
  • SMA
Intervention Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their conditions.
Study Groups/Cohorts Participants with Spinal Muscular Atrophy
Intervention: Other: Patient Registry
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: February 28, 2020)
700
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 1, 2021
Estimated Primary Completion Date December 1, 2021   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Registry Project Manager and Curator 0191 2418640 registry@treat-nmd.org.uk
Contact: Chiara Marini-Bettolo, MD, PhD
Listed Location Countries United Kingdom
Removed Location Countries  
 
Administrative Information
NCT Number NCT04292574
Other Study ID Numbers 19/NE/0354
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Newcastle University
Study Sponsor Newcastle University
Collaborators Not Provided
Investigators
Principal Investigator: Chiara Marini-Bettolo, MD, PhD John Walton Muscular Dystrophy Research Centre
PRS Account Newcastle University
Verification Date February 2020