Center Offers Newest Treatments for SMA and Duchenne Muscular Dystrophy

Published on 
February 21, 2020
Leigh Ramos-Platt, MD
Leigh Maria Ramos-Platt, MD - Children's Hospital Los Angeles

Children’s Hospital Los Angeles has so far treated four SMA patients with gene therapy.

The Neuromuscular Disorders Center at Children’s Hospital Los Angeles is at the forefront of new treatment options for spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD).

The Center, which is led by pediatric neurologist Leigh Ramos-Platt, MD, has so far treated four patients with Zolgensma, the first-ever gene therapy for SMA. The drug was approved by the Food and Drug Administration last year for patients under age 2 who weigh less than 13.5 kilograms and have the most severe form of the condition.

The drug is the latest therapy to be approved for SMA, a condition that until recently had no approved treatments. Children’s Hospital Los Angeles has also been treating patients with Spinraza (nusinersen), the first FDA-approved drug for SMA, since 2017. Nusinersen treats SMA types 1 through 3 and can be given to older children as well as infants.

The state of California will add SMA to its newborn screening program in June 2020. Due to its expertise with SMA, Children’s Hospital Los Angeles will be accepting referrals from pediatricians whose patients screen positive for the disorder.

For children with DMD, the Center offers leading-edge exon-skipping therapies. It will soon offer Vyondys 53 to treat exon 53 skippable mutations, and it is a study site for SRP-0045, a compound for exon 45 skippable lesions. The team has been treating patients with Exondys 51 since shortly after that drug’s approval in 2016.

“Eventually, I think all children born with SMA or DMD will be treated with gene therapy,” says Dr. Ramos-Platt, Associate Medical Director of Health System and Network Development for the Neurological Institute. “With DMD, gene therapy is still less developed. It’s currently in clinical trials, but it’s going to take more time.”

The Center—which is among the largest and busiest pediatric programs of its kind in California—takes an integrated, multidisciplinary approach to care that includes:

  • Developing a unique nutrition protocol to reduce muscle breakdown in SMA patients
  • Consulting with hepatology and hematology experts at Children’s Hospital Los Angeles to manage liver and platelet side effects of gene therapy
  • Creating an innovative inpatient protocol for SMA patients on nusinersen, including physical therapy, occupational therapy and speech therapy
  • Working with specialists from the Children’s Orthopaedic Center to treat displaced hips, scoliosis and other orthopaedic issues associated with these disorders
  • Providing pulmonary function tests and sleep studies for children with respiratory muscle weaknesses, in collaboration with the Division of Pulmonology and Sleep Medicine

“Studies have shown that children with disorders like SMA and DMD do much better with multidisciplinary care,” Dr. Ramos-Platt adds. “With so many new treatments coming out for these conditions, it’s more important than ever that patients are treated at centers that specialize in this complex care and have a team of experts across numerous disciplines.”