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; 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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON39833

Enrollment

750

Registered

2010-01-18

Start date

2010-04-28

Completion date

Unknown

Last updated

2024-05-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

SMA spinal muscular atrophy

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

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'

Design outcomes

Primary

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

Measure

Time frame

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

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Secondary

Measure	Time frame
Correlations between primary parameters	—

Countries

Netherlands

Outcome results