| NCT ID | NCT04292574 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Newcastle University |
| Condition | Spinal Muscular Atrophy |
| Study Type | OBSERVATIONAL |
| Enrollment | 800 participants |
| Start Date | 2008-07-13 |
| Primary Completion | 2040-01-01 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 800 participants in total. It began in 2008-07-13 with a primary completion date of 2040-01-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
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
Contact & Investigator
Chiara Marini-Bettolo, MD, PhD
PRINCIPAL INVESTIGATOR
Newcastle University
Frequently Asked Questions
Who can join the NCT04292574 clinical trial?
This trial is open to participants of all sexes, studying Spinal Muscular Atrophy. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT04292574 currently recruiting?
Yes, NCT04292574 is actively recruiting participants. Contact the research team at smaregistry@newcastle.ac.uk for enrollment information.
Where is the NCT04292574 trial being conducted?
This trial is being conducted at Newcastle upon Tyne, United Kingdom.
Who is sponsoring the NCT04292574 clinical trial?
NCT04292574 is sponsored by Newcastle University. The principal investigator is Chiara Marini-Bettolo, MD, PhD at Newcastle University. The trial plans to enroll 800 participants.