Symposium offers opportunity to learn about rare diseases

Researchers, patient advocates, health care professionals and community leaders gathered in Columbia to highlight the latest advancements in rare disease research and discuss critical unmet needs in the rare disease community.

Hosted by the South Carolina Rare Disease Advisory Council (RDAC), the second annual Rare Disease Symposium took place at Segra Park. A virtual attendance option was available to those who could not attend in person.

The symposium included presentations by the National Organization for Rare Disorders (NORD), Greenwood Genetic Center and Data Collaboration Center (DCC). The founders of two advocacy groups shared their experiences navigating clinical trials and caring for loved ones with rare diseases. 

 

RDACs are an initiative of the National Organization for Rare Disorders. They’re intended to heighten state governments’ awareness of the needs of people with rare diseases and encourage leaders to address barriers to treatment and care. Members include representatives from research universities, state agencies, health care organizations and patients with rare diseases. 

South Carolina’s RDAC is chaired by the Medical University of South Carolina’s Patrick Flume, M.D., director of MUSC’s Cystic Fibrosis Center and co-director of the South Carolina Clinical & Translational Research Institute (SCTR), which is assisting the council with hosting the symposium. 

Prominent sports venues, including Charleston’s Credit One Stadium and the Joseph P. Riley Jr. Park, celebrated Rare Disease Day by lighting their exteriors in rare disease colors on the evening of Feb. 28. 

In observance of Rare Disorders Day, we talked with Neena Champaigne, M.D., a member of SC RDAC and chief of the MUSC Genetics and Genomics Integrated Centers of Clinical Excellence. 

Q. What is a rare disease? 

A. In the United States, a rare disease is any condition that affects fewer than 200,000 individuals. According to the Centers for Disease Control and Prevention (CDC), at least 10,000 conditions have been categorized as rare. In the United States, 10% of the population, or one in 10 people, has a rare disease. They’re individually rare but collectively common.

Q. Are rare diseases genetic? 

A. A good number are genetic, but they can also be caused by environmental exposure, allergens and infections. 

Q. What are some examples of rare diseases?

A. Huntington’s Disease, a neurological disease that affects adults; sickle cell; cystic fibrosis; certain immune deficiencies; and metabolic disorders, such as phenylketonuria (PKU), are rare diseases. I am a biochemical geneticist, and my work is with individuals who have metabolic disorders, such as phenylketonuria, where there is a problem processing nutrients for energy. Without treatment with diet and medications, these individuals would develop irreversible developmental delays, cognitive impairments and other neurological problems. 

Q. Are most rare diseases chronic?

A. Rare diseases can be chronic, and a subset is life-limiting. 

Q. Are they detectable at birth?

Yes, some conditions are picked up prenatally through genetic screening or ultrasounds that detect anomalies. Others are detected through newborn screening. Clinically, the most severe conditions will present early in life but can be diagnosed across the lifespan. In some cases, conditions may not be diagnosed until adulthood because symptoms were mild and went unnoticed earlier in life.

Q. Are rare diseases treatable? 

A. Finding treatments is what the rare disease community – clinical providers, researchers and patients and families, have been working on. Most are chronic and progressive, but in the last few years, there have been opportunities for newer treatments. For example, in my area, enzyme replacement therapy has been successful in replacing the enzyme that is absent or deficient to minimize or reverse disease progression.

Q. What other advancements in treatment have been made?

A. Most recently, gene therapy, correction or replacement of a gene that is not functioning, has been successful in certain conditions. Gene therapy is the most progressive treatment available. The Food and Drug Administration (FDA) has approved 22 gene therapies for certain conditions. These include spinal muscular atrophy, one of the deadliest, most debilitating neuromuscular conditions in childhood. We screen for that condition at birth and, if it is present, we can deliver gene therapy. Here at MUSC, we have treated six babies in the last two years, and the outcome is impressive. We’re studying the long-term impact of the therapy, but these children have met their milestones like a typical child. Two gene therapies for sickle cell, which is debilitating, chronic and painful, have been approved recently by the FDA. 

Q. Are MUSC researchers working on treatments for rare diseases?

A. Clinical trials are happening across the campus. MUSC is one of several sites around the world that is conducting a clinical trial for a gene therapy for PKU. Research on multiple treatments for various lung diseases is underway in pulmonology. My clinical team is collaborating with a researcher in oncology to repurpose cancer drugs for patients with Noonan syndrome, a genetic condition that causes physical and developmental abnormalities.   

Q. Why aren’t more treatments available?

A. Historically, because the population is small, bringing a treatment to market has not been considered economically feasible by pharmaceutical companies. In the last 10-15 years, however, new treatments have become a focus of certain companies and foundations that are driven by patients, their families and nonprofits. The FDA has created a pathway for therapeutics that is less stringent. This is encouraging researchers to think outside the box to study their efficacy and safety without having the same expectations.

Q. What is RDAC’s role and how important is the symposium for families and patients managing rare diseases?  

A, The council is charged with assessing and assisting individuals and families living with rare diseases through support and advocacy. Our annual symposium is organized to bring together patients, families, caregivers, clinicians, researchers and other key stakeholders. It is a wonderful opportunity to build connections as well as highlight the efforts, opportunities and resources available within our own community.