ClinicaliQ Trial Snapshot
- UK SMA Patient Registry — Recruiting • Respiratory / COPD / Asthma • NCT04292574.
- What is being tested: The UK SMA Patient Registry is establishing a comprehensive database to collect clinical, genetic, and outcome data from patients with spinal muscular atrophy (SMA) across all disease types and ages, enabling long-term monitoring of disease progression and treatment….
- Patient eligibility overview: The registry includes children and adults with confirmed SMA diagnosis (typically SMN1 gene mutation-related motor neuron disease) across the full disease spectrum, from severe infantile-onset forms to milder adult-onset presentations, regardless of current or previous treatment status.
Use This Page For
- Quick orientation before opening the registry record.
- Checking recruitment status, phase and sponsor at a glance.
- Connecting this trial to nearby guidelines, Drug Science and education.
What This Trial Is Studying
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…
Eligibility Snapshot
- : * All patients with a confirmed SMA diagnosis (or pending diagnosis) are eligible for inclusion. Diagnosis will be confirmed via genetic testing results
Use the source registry for the full inclusion and exclusion criteria before discussing referral or enrolment.