UK Spinal Muscular Atrophy Patient Registry

información clave

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


última actualización: Febrero