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SMA

Spinal Muscular Atrophy (SMA)

Genea Biocells works on a novel therapy for Spinal Muscular Atrophy (SMA), a progressive neuromuscular disorder which is the most common genetic cause of childhood mortality. Although SMA has generally been considered primarily a motor neuron disease, there is now abundant evidence that other tissues including skeletal muscle are affected in SMA patients. This strongly suggests that treatment modalities that solely target the nervous system will be inadequate for SMA patients. By focusing our therapeutic development on muscle we aim to improve and maintain neuromuscular integrity and function to halt or delay SMA disease progression.

 

Using our stem cell technology platform we have developed an SMA disease model and a range of assays that uniquely enable the development of small molecule drugs that address the documented skeletal muscle issues and their role in motor neuron maintenance and neuromuscular junction dysregulation.

Therapeutic Approach

We are developing small molecule therapeutics in combination with modalities aimed at correcting the underlying genetic defect in SMA and as monotherapy in patients with certain subtypes of SMA.

Healthy stem cell-derived myoblasts show typical SMN-’gems’ (arrows) which are absent in SMA-affected myoblasts

About SMA

  SMA is caused by a mutation or deletion in the survival of motor neuron gene (SMN1) that leads to a deficiency of a SMN protein.

 SMA affects approximately 1 in 11,000 live births, with a carrier frequency of about 1 in 50.

 SMA is caused by a mutation or deletion in the survival of motor neuron gene (SMN1) that leads to a deficiency of a SMN protein.

 SMA severity is clinically heterogeneous and has been classified into several groups based on decreasing severity and age of onset. Type I SMA is the most severe form with onset of symptoms in infancy, prior to 6 months of age. Type II and Type III SMA are milder forms of the disease with onset between 6 months to adulthood. SMA type IV is typically diagnosed in the second or third decade of life and these patients remain ambulatory until approximately 60 years of age.

For more information on SMA:

 

MDA Website

 

SMA Foundation Website

 

Cure SMA Website