Spinal Muscular Atrophy, SMN protein and Genetics; A population based study on spinal muscular atrophy in the Netherlands to explore the prevalence of SMA type 1-4 and their severity in the Netherlands by registrating all patients in a so called SMA-database, to elucidate the genetic factors determining disease severity and to determine the value of SMN protein concentrations as a surrogate marker for clinical trials. - Spinal Muscular Atrophy, SMN protein and Genetics

niversitair Medisch Centrum Utrecht0 个研究点目标入组 750 人开始时间: 待定最近更新: 2024年5月6日

适应症

试验速览

暂无简介。

•1) SMA type 1, 2, 3a, 3b or 4, diagnosed previously, with genetic confirmation of homozygous SMN1 deletion
•2) given oral and written informed consent
•3) Amendment SMA type 1: deceased children with SMA type, diagnosed after 1995, will be included retrospectively

•1) prominent sensory disturbances
•2) central nervous dysfunction
•3) involvement of other neurological systems or organs i.e. hearing or vision
•4) weakness of extra-ocular muscles, diaphragm, myocardium of marked facial weakness
•5) hyperreflexia
•6) SMA plus types (protocol page 18)
•7) contra-indication to have a MRI scan (only applicable for participants of the substudy 'Mouth-opening in SMA'

发起方

niversitair Medisch Centrum Utrecht