Muscular Atrophy, Spinal
Conditions
Brief summary
In this single center study blood samples for biomarker analysis will be collected from patients with spinal muscular atrophy. Up to 21 mL blood will be drawn from eligible patients at a single visit.
Interventions
None listed
Sponsors
PTC Therapeutics
Hoffmann-La Roche
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Self-identified as 5q-autosomal recessive spinal muscular atrophy (SMA) type I, II or III as judged by their neurologist upon diagnosis * Ability and willingness to provide blood samples * Willingness (by the patient or patient's parents or legal guardian) to complete to their best ability a questionnaire which requests specific clinical and genetic information * Able to participate and willing to give written informed consent or assent. Informed consent will be obtained from the patient, or the patient's parent or legal guardian.
Exclusion criteria
* Any known genetic condition other than spinal muscular atrophy, unless it is not interfering with the purpose of this study based on the Sponsor's judgment * Participation in a clinical trial (except observational studies) within the previous 14 days * Donation of blood or significant blood loss within three months prior to screening * Concomitant disease or condition that could interfere with, or treatment of which might interfere with, the conduct of this study, or that would, in the opinion of the investigator, pose an unacceptable risk to the patient in this study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| SMN1/SMN2 detection in blood by mRNA assay | 1 day |
Secondary
| Measure | Time frame |
|---|---|
| SMN protein level in blood/lymphocytes | 1 day |
Countries
United States
Outcome results
None listed