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.

Recruiting

Conditions: SMA
spinal muscular atrophy
10083624
10029317

Registration Number: NL-OMON39833

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 750

Inclusion Criteria

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

Exclusion Criteria

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'

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main study parameters are the genetic disease modifying factors that<br /><br>determine disease severity, and the relation between SMN protein level in<br /><br>lymphocytes and fibroblasts and disease severity or disease progression.<br /><br>Histopathological biomarkers will be investigated through skin biopsies. Our<br /><br>study on the natural history of SMA has the primary objective of documenting<br /><br>the clinical outcomes and potential biomarkers over the course time.</p><br>

Secondary Outcome Measures