Spinal muscular atrophy (SMA) patients aged two months and older will now have an at-home treatment option in Europe. The European Commission (EC) has approved of Evrysdi for those who have been diagnosed with SMA Type 1, 2, or 3 or up to four copies of the SMN2 gene. This marks a large step in the right direction for patients, giving them a treatment option that can be administered at home. Life is easier with fewer appointments and travel for the necessary therapy.
About Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is rare genetic order that is characterized by muscle weakness and degeneration. It affects one in every 10,000 people but can vary in severity from person to person. A mutation in the SMN1 causes this condition, and it causes the loss of motor neurons in the spinal cord and brain stem. Due to this loss, muscles weaken and atrophy, specifically the muscles used for walking, breathing, swallowing, crawling, sitting up, and moving the head.
The symptoms of this condition depend on the severity and type of SMA.
- Type I is the most severe, and is diagnosed after birth. The symptoms of this type include developmental delay, the inability to sit up or move the head, and trouble with breathing and swallowing.
- Type II is diagnosed in children between six and twelve months old, and they experience trouble with standing and walking.
- Those who have type III are diagnosed between early childhood and adolescence and cannot walk or climb stairs independently.
- Type IV occurs in adults over 30 and is the least severe type. People with this form of SMA usually have mild muscle weakness, problems with breathing, twitches, or tremors.
Once these symptoms are noticed, a diagnosis is confirmed through neurological examination and genetic testing. While there is no cure for SMA, there are treatments available. Physical therapy, braces, and surgery can all help to improve movement. Noninvasive respiratory support and tracheostomies can address issues with breathing while gastrostomy can help with eating. Spinraza is the first FDA-approved treatment for SMA, and Zolgensma and Evrysdi have also recently been approved.
Approval for Evrysdi
Two studies led to the approval of this treatment: SUNFISH and FIREFISH. Both trials demonstrated positive results with a favorable safety and efficacy profile. Additionally, a positive opinion from the Committee for Medicinal Products for Human Use (CHMP) pushed Evrysdi towards approval back in February.
This trial enrolled patients aged 2 through 25 with symptomatic SMA Type 2 or 3, all of whom experienced improvements in motor function measured as a change from baseline on the Motor Function Measure-32. Key secondary endpoints, such as upper limb function, saw significant improvement as well.
These changes were noted after twelve months of treatment, and after twelve more months of follow-up, researchers found that Evrysdi maintains the improvement in motor and upper limb function.
Children aged two to seven with symptomatic SMA Type 1 were included in this trial. After twelve months of treatment, 29% were able to achieve a key motor milestone: sitting up for five seconds without any support. 93% were alive while 85% lived without permanent ventilation. Further results include:
- 83% of participants were able to feed orally
- 5% could stand without assistance
- 90% saw at least a four-point improvement on the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
- 56% achieved a score of at least 40 points
To ensure that all SMA patients will have access to Evrysdi, Roche has been collaborating with assessment and reimbursement organizations and agencies throughout Europe. Germany will be the first to fully access the medication, with France following closely behind.
To read more about approval, click here.