A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls
- Wadman Renske I.
- Stam Marloes
- Jansen Marc D.
- van der Weegen Yana
- Wijngaarde Camiel A.
- Harschnitz Oliver
- Sodaar Peter
- Braun Kees P. J.
- Dooijes Dennis
- Lemmink Henny H.
- van den Berg Leonard H.
- van der Pol W. Ludo
DOIAbstract
Clinical trials to test safety and efficacy of drugs for patients with spinal muscular atrophy (SMA) are currently underway. Biomarkers that document treatment-induced effects are needed because disease progression in childhood forms of SMA is slow and clinical outcome measures may lack sensitivity to detect meaningful changes in motor function in the period of 1–2 years of follow-up during randomized clinical trials. copy numbers. copy number. copy number, SMA type or age in blood (p = 0.7) or fibroblasts (p = 0.09). Paired analysis between blood and fibroblasts did not show a correlation between the two different tissues with respect to the SMN protein or mRNA levels. copy number and have potential as a biomarker for disease severity
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