In companion research to go along with the first-ever clinical trial of a drug to treat spinal muscular atrophy, the Jasper Clinic in Kalamazoo, MI, is recruiting patients for a clinical study that promises to identify biomarkers for the inherited neurodegenerative disease. The study will measure RNA levels and proteins that may be changed in the blood of SMA patients. The data will be used to prepare Phase I clinical trials scheduled for this year on RG3039, a drug developed by Waltham, MA-based Repligen.
Repligen recently received FDA fast-track designation for RG3039. The drug also received orphan drug status from the EMA.
SMA patients have a defect in the SMN1 ("survival motor neuron") gene, which leads to progressive damage to motor neurons, loss of muscle function and, in many patients, an early death. Patients can survive because humans carry a second gene called SMN2, which produces low levels of SMN protein. RG3039 inhibits an RNA processing enzyme that targets SMN2 and has been shown to increase production of SMN protein, according to the company.
The clinical trials are funded by a $13 million investment by Families of Spinal Muscular Atrophy.