Gene Replacement Therapy for Spinal Muscular Atrophy Type 1

Even though this is not Kennedy’s Disease (SBMA) related, the gene replacement therapy mentioned in the two articles shows another major step forward in this type of treatment. If they can accomplish these type results for SMA1, the potential treatment for Spinal Bulbar Muscular Atrophy is a little closer.

The Gene Therapy Animation is short, but nicely explained in this YouTube video. 

Note: Information for parents of children with SMA1 who want to learn more about study participation can visit: studysmanow.com.

The well-written article explaining Dr. Mendell’s research in Nationwide Children’s does a good job of explaining the treatment and where they are in the process.

Phase 1 Replacement Therapy Article

“…SMA1 is a progressive, childhood, neuromuscular disease caused by a mutation in a single gene. Children with SMA1 fail to meet motor milestones and typically die or require permanent mechanical ventilation by 2 years of age. The phase 1 clinical trial is the first to test the functional replacement of the mutated gene responsible for SMA1.

A one-time intravenous injection of modified adeno-associated virus serotype 9 (AAV9) delivered the SMN gene to 15 patients. Three patients received a low dose, while 12 patients received a high dose. In the Phase 1 trial, patients in the high dose group demonstrated improvement in motor function and they had a decreased need for supportive care compared to the natural history of the disease.

Specifically, at the end of the study period, all 15 patients appeared to have a favorable safety profile and to be generally well tolerated. Of the 12 patients treated with the high dose, 92 percent of patients have achieved head control, 75 percent of patients can roll over and 92 percent of patients can sit with assistance. Seventy-five percent of these patients are now sitting for 30 seconds or longer. Two patients can crawl, pull to stand and stand and walk independently.

According to natural history of the disease, patients require nutritional and respiratory support by 12 months of age, and are not able to swallow or speak effectively. Of the patients who received the high dose in study, 11 patients are able to speak, 11 patients are fed orally and seven do not require bi-level positive airway pressure as of the data cut-off (August 7, 2017)…”