April 2, 2020

Crystal M. Proud, MD

Physician Partner, Children’s Specialty Group; Attending Physician, Children’s Hospital of The King’s Daughters; Assistant Professor, Eastern Virginia Medical School


As a subspecialist in pediatric neuromuscular neurology, Dr. Crystal Proud’s focus was once on optimizing quality of life for babies and children with severely shortened life expectancies – some less than two years – while supporting their devastated families. 

In the past five years, however, medications have begun to emerge for some of the most ruthless degenerative conditions, including spinal muscular atrophy (SMA) and Duchenne muscular dystrophy. Dr. Proud, a principal investigator in multiple clinical trials on promising drugs and gene therapies, suddenly could talk about hope. 

“My conversations with patients’ families are so very different now,” she says. “We are going to get to see what more and more of these amazing kids can contribute to the world, because they will have a chance to live.”

During her two fellowships at Stanford University and now as physician and researcher at Children’s Hospital of The King’s Daughters, Dr. Proud has helped test and develop therapies that have gone beyond easing symptoms as children gradually grew weaker. 

The medication Spinraza, for example, stimulates the production of a protein that supports motor neurons in patients with SMA, which is similar to Amyotrophic Lateral Sclerosis in adults and is the leading genetic cause of infant death. The drug gained FDA approval in 2016, and Dr. Proud has prescribed it to 30 patients and counting at CHKD. 

“In the past, most of these babies didn’t live past age 2,” she notes. “Yet suddenly, we found they were getting stronger. That was revolutionary. It was impossible in the natural history of this disease.” 

The first baby to receive Spinraza in trials is now 6½ years old. Dr. Proud recently treated a now-thriving little boy who, after starting the medication at just 2 weeks old, pulled himself up to a standing position at 8 months old. Typically, that child never would have sat independently, but now Dr. Proud expects he will one day gain the ability to walk. 

Dr. Proud also is involved in research on the first form of gene therapy for SMA, the drug Zolgensma. Just this May, the medicine gained FDA approval in an intravenous form for babies; it is in trials for possible use in older children and adults with neuromuscular disorders via delivery to spinal fluid.   

Gene therapy also has the potential to transform treatment of Duchenne, Proud says. The disease typically robs children of their ability to walk by age 12 and causes heart and/or lung failure and death by their 20s or early 30s. Until now, physicians have mainly relied on steroids to help kids delay wheelchair use for a few more years. 

Dr. Proud was part of a clinical trial on exon-skipping technology, one of several studies she has joined on drugs designed to extend patients’ lifespans. The therapy creates a molecular fix of a small mutation in a large gene, aiming to boost production of a protein critical for muscle development. One of her patients was among 12 boys in the first trial, which led to accelerated FDA approval in 2016. 

Other rare diseases that could respond to gene therapy include limb-girdle muscular dystrophy, Charcot-Marie-Tooth neuropathy and Friedreich’s ataxia. 

 “With gene therapy, the landscape in my specialty is about to become dramatically different,” Dr. Proud says. “This is where novel therapies are going, and we’ve been able to establish CHKD as a premiere site for some of these groundbreaking trials.”

A Newport News native, Dr. Proud was the first person in her family to go to college. She was fascinated by brain anatomy in a high school psychology class and majored in neuroscience at the University of Virginia. 

“Sometime during my first year, I started thinking about becoming a doctor because I loved the idea of taking care of people,” she recalls. “My mom asked me, ‘How do we do that?’ and I said, ‘I don’t know.’ My mom just said, ‘Well, we will figure it out.’”

Dr. Proud went on to Eastern Virginia Medical School, followed by a residency in pediatrics at Emory University and fellowships in child neurology and pediatric neuromuscular medicine at Stanford University. She is Board certified in all three specialties. 

While Dr. Proud was at Stanford, researchers were part of a clinical trial on Spinraza, which gained federal approval about a year after she arrived at CHKD in 2015. She remembers the exact date, in fact: Dec. 23, 2016, two days before Christmas.  

Now married to the son of a longtime and beloved CHKD geneticist, Dr. Virginia Proud, Dr. Proud is raising her own 5-year-old twins – the beach is a favorite family spot – while giving other children an opportunity to grow up. 

To increase early diagnoses of neuromuscular disorders, Dr. Proud serves on a statewide newborn screening committee that should soon lead to all babies being tested for SMA immediately after delivery. She expects such testing will expand to other diseases as treatment options increase. In addition, she is part of a clinical trial on the administration of gene therapy to infants who don’t show signs of SMA but have parents who are carriers.  

Meanwhile, Dr. Proud is asking completely new types of questions: What type of physical therapy could help SMA patients sit up, stand or walk? How might the right nutrition increase strength? When should physicians add medications to combination treatment regimens? 

“There was never a reason to think about any of this before,” she marvels. “This is such a time of hope, and we have so much more to explore in the future.”