Medical Miracles: Lifesaving Gene Therapy from Seattle Children’s Neuromuscular Program

Comprehensive and Coordinated Care

The Neuromuscular Program at Seattle Children’s evaluates and treats infants, children, and adolescents with conditions related to their muscles and nerves. These conditions can limit mobility and cause weakness, numbness, pain, spine and joint issues, and other life-threatening problems.

Seattle Children’s offers the most comprehensive care in the Pacific Northwest for children with neuromuscular conditions. These treatments are provided by multidisciplinary teams that include specialists from neurology, rehabilitation, and experts in a variety of other fields based on each patient’s needs.
 
From relatively common disorders like muscular dystrophy and spinal muscular atrophy, to even rarer genetic and autoimmune conditions, the Neuromuscular Program offers customized treatment plans that change based on how the disease affects each patient’s health, function and quality of life.

Therapy Treatments That Change Improbabilities to Possibilities

What sets the Neuromuscular Program apart are the advanced therapy treatments available to patients. Seattle Children’s helped test drugs that are now approved by the FDA — eteplirsen (Exondys 51) for Duchenne muscular dystrophy and nusinersen (Spinraza) for spinal muscular atrophy. Patients that would have been immobile or on a ventilator with a feeding tube now have access to treatments that improve not only their quality of life but give families hope for more years with their child.

With an increase in advanced treatment options and newborn screening now available for some disorders, teams of specialists can help preserve patients’ mobility which allows their bodies to keep on growing and developing; despite having what otherwise would be a degenerative disorder.

The program also provides the opportunity for patients to participate in a variety of clinical trials which gives patients the ability to receive new therapies by taking part in research that matches their specific needs.

Seth Perlman, MD, Medical Director of the Neuromuscular Program says some of the gene therapy treatments available at Seattle Children’s are near-miraculous.

“Before the FDA approved treatment, the majority of patients who had spinal muscular atrophy passed away within the first few years of their lives. Now that these new treatments are available, patients are achieving milestones such as sitting or even walking that would have previously been impossible. Patients who first received one of the available gene therapies that are given as a one-time dose are now 8 to 9 years old,” said Dr. Perlman.

So how does this gene therapy work?

Gene transfer therapy is one type of advanced therapy targeting a patient’s genes. It uses an artificial version of a patient’s gene that's not working properly and delivers a version that does work into their cells. This gene is carried inside of the hollow shell of a virus and, after entering the patient’s cells, can create protein that’s lacking which helps slow or even stop the worsening of their degenerative condition.

This type of gene therapy is given in the Infusion Center at Seattle Children's. The treatment is provided once with an IV infusion and, after a short period of observation, the patient is able to go home. Through a collaborative approach, the Neuromuscular Program may partner with each patient’s primary care and local specialty providers to provide ongoing monitoring to ensure the safest care possible and to adjust treatment plans based on the changing needs of each patient.

Treatments That Let Kids Grow Up

Conditions like Duchenne muscular dystrophy and spinal muscular atrophy are degenerative disorders. If they go untreated, symptoms get worse over time. Genetically targeted approaches such as gene transfer therapy offer a chance to slow or stop the decline of these conditions.

With the average age of diagnosis of Duchenne muscular dystrophy being no different now than it was in 1982 (4-5 years old), it’s critical for caring for these patients to continue to partner with community providers for early diagnosis and intervention.

“When you combine early recognition, like through newborn screening, with these gene therapy treatments, we’re able to protect the patient’s nerves and muscles from degeneration. That may allow them to grow and develop and gain skills and motor abilities they never would have been able to have without these treatments,” said Dr. Perlman.

The high quality of care Seattle Children’s provides, along with advancements in treatments offered through research, improvements in the quality of life for patients with neuromuscular disorders. Through dedication and innovation, the Neuromuscular Program is redefining what is possible for these patients.

Refer a patient to Seattle Children’s Neuromuscular Program or learn more about the program.