• Article
  • March 8, 2017

New Center Aims to Advance Care and Research for Patients with Rare Diseases

Currently, it's estimated that one in 10 Americans has a rare disease, and about 80 percent are genetic. Of the nearly 7,000 rare diseases identified, less than 500—about 5 percent—have a known treatment approved by the U.S. Food and Drug Administration (FDA).

To help advance the care and treatment of children and adults with these conditions, Children's National Health System announced it formed the Children's National Rare Disease Institute (CNRDI), the first center of its kind.

Filling a need

Designated by the National Organization for Rare Disorders (NORD) as its first Center of Excellence for Clinical Care for Rare Diseases, the goal of the new institute is to improve the life-span and quality of life of rare disease patients, and to provide a medical home for patients with conditions that remain largely unknown to the general medical community.

"One of the big challenges of 21st century pediatric medicine is our inability to provide more help to children born with rare genetic diseases," says Marshall Summar, M.D., chief of Genetics and Metabolism at Children’s National. "These conditions impact one out of every 10 Americans and account for up to 40 percent of pediatric medical expenses."

Getting the right diagnosis

Summar says patients and their families endure an average of seven years of trial and error before receiving a correct diagnosis—typically visiting up to eight doctors and often receiving two or three misdiagnoses. "Even upon diagnosis, treatment options remain scarce, and one-third of patients will die before their fifth birthday. Our goal is to change this trend," he says.

According to the National Institutes of Health (NIH), any disease, illness or disorder that affects fewer than 200,000 people in the U.S. is considered rare.

Using data to find new therapies

The testing and development of new therapies will be a key focus of the CNRDI. The geneticists at Children's National will use systematic data models that track patient outcomes and treatment regimens to create an ever-expanding clinical knowledge base. The institute also intends to eliminate patient care gaps by providing training specific to rare diseases for clinicians, genetic counselors, nurses, researchers and allied health professionals.

Because ongoing health data on rare disease patients are vitally important, the CNRDI will collaborate with the NORD natural history and registry program, developed with input from FDA and NIH, to advance monitoring databases for patient outcomes and disease.