UK Spinal Muscular Atrophy Patient Registry

ID de estudio #: NCT04292574

condición: Spinal Muscular Atrophy, SMA

Estado: Reclutamiento

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.

intervención: Registro de pacientes

Resultados: https://clinicaltrials.gov/ct2/show/results/NCT04292574

última actualización: Febrero

fecha de inicio: 13 de Julio, 2008

finalización estimada: 1 de diciembre de 2021

última actualización: Marzo 16, 2021

tamaño / inscripción: 700

descripción del estudio: 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.

resultados primarios:

• Cuestionario del paciente
  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.
• 12 meses
  

criterios de inclusión:

Criterio de exclusión: Criterios:

There are no exclusion criteria for the registry

patrocinador: Universidad de Newcastle

Contactos: Registry Project Manager And Curator, 0191, registries@newcastle.ac.uk

investigadores Chiara Marini-Bettolo, MD, PhD,John Walton Muscular Dystrophy Research Centre

ubicaciones del centro de prueba: United Kingdom

• UK Spinal Muscular Atrophy Patient Registry
  Registry Project Manager And Curator, 0191, registries@newcastle.ac.uk