Roche announces that its SMA treatment risdiplam is granted PRIME designation by the European Medicines Agency (EMA).
Roche has announced that the European Medicines Agency (EMA) has granted PRIME (PRIority MEdicines) designation for the company’s investigational oral medicine risdiplam (RG7916) for the treatment of people with spinal muscular atrophy (SMA).
PRIME designation is granted by the EMA to support data generation and development plans for promising medicines, providing a pathway for accelerated evaluation by the agency, and thus potentially enabling them to reach patients earlier.
SMA treatment risdiplam, an orally administered, survival motor neuron-2 (SMN2) gene splicing modifier, has shown improvements in motor function in people with SMA Types 1, 2 and 3. An increasing body of clinical evidence suggests that SMA is a multisystem disorder, and the loss of SMN protein may affect many tissues and cells beyond the central nervous system. Risdiplam is systemically distributed and designed to durably increase SMN protein levels in the central nervous system and throughout the body.
Roche leads the clinical development of SMA treatment risdiplam as part of a collaboration with the SMA Foundation and PTC Therapeutics.
SMA is a severe, inherited, progressive neuromuscular disease that causes devastating muscle atrophy and disease-related complications. It is the most common genetic cause of infant mortality and one of the most common rare diseases, affecting approximately one in 11,000 babies. SMA leads to the progressive loss of nerve cells in the spinal cord that control muscle movement. Depending on the type of SMA, an individual’s physical strength and their ability to walk, eat or breathe can be significantly diminished or lost.
SMA is caused by a mutation in the survival motor neuron 1 (SMN1) gene that results in a deficiency of SMN protein. SMN protein plays an important role throughout the body and increasing evidence suggests that the loss of SMN protein may affect many tissues and cells, which can stop the body from functioning.
In other SMA news the Scottish Medicines Consortium (SMC) has recommended the routine funding of Spinraza (nusinersen) for the treatment of symptomatic type 1 5q spinal muscular atrophy (SMA) (infantile onset) while NICE have said that they hope for further talks over nusinersen (Spinraza).
PRIME designation for SMA treatment risdiplam is based on data from Part 1 of the pivotal studies FIREFISH (evaluating safety and determining dosage in infants with Type 1 SMA) and SUNFISH (in children and adults with Type 2 and 3 SMA) as well as a continuing medical need for alternative treatments and administration options for patients with SMA.
Nineteen of 21 risdiplam-treated patients (90%) remained alive with two having discontinued due to the fatal progression of their disease. No infant required a tracheostomy or permanent ventilation since study initiation, and no infant has lost the ability to swallow. The most common adverse events were fever, diarrhoea, upper respiratory tract infections, ear infections , pneumonia, constipation), vomiting, cough and upper respiratory tract inflammation.
Interim data from Part 1 of the SUNFISH study in Type 2 and 3 SMA, also presented at WMS 2018, demonstrated a median >2-fold increase in SMN protein levels in the blood following 12 months of treatment.  Of the patients treated with risdiplam for at least 1 year (n=30), the median change from baseline in Motor Function Measure (MFM), the primary endpoint in the confirmatory part of SUNFISH and a scale used to assess motor function in neuromuscular diseases, was a 3.1-point improvement.
Sandra Horning, MD, Roche’s Chief Medical Officer and Head of Global Product Development said, “SMA is the leading genetic cause of death in young children, and families and clinicians continue to seek alternative treatment options for this progressively debilitating and life-threatening disease. The EMA’s decision to grant PRIME designation recognises the potential of the oral systemic agent risdiplam to deliver clinically meaningful results for patients and address a continuing medical need in SMA.”
To date there have been no drug-related safety findings leading to withdrawal from the FIREFISH or SUNFISH studies.