Children's Hospital Colorado

Innovative Study at Children's Hospital Colorado Seeks to Better Understand Goltz Syndrome

Children's Hospital Colorado | August 11, 2015

On July 22, 16 patients from across the country came to Children's Hospital Colorado on the Anschutz Medical Campus to participate in a single-day study investigating Focal Dermal Hypoplasia, a rare genetic condition commonly known as Goltz syndrome that is thought to affect only 35 children nationwide.

Led by Principal Investigator Stephanie Hsu, MD, PhD, Assistant Professor of Pediatric Endocrinology at the University of Colorado Medical School, the study is a collaborative effort between Children's Colorado's Pediatric Clinical Translational Research Center (Pediatric CTRC), the National Foundation for Ectodermal Dysplasias (NFED) and investigators from Baylor College of Medicine and the University of Missouri-Columbia School of Medicine.

Only 35 children in the United States suffer from Goltz syndrome

Individuals with Goltz syndrome face significant challenges that can include short stature, skin lesions, eye and teeth abnormalities, and limb deformities, among other symptoms. "It's really rare," said Dr. Hsu. "The NFED has a database with a total of 67 patients of all ages in the US." In fact, among the 16 patients that came to Children's Colorado for the study, only a single person came from Colorado.

"Their growth issues are striking," said Dr. Hsu. "We're looking to see if we can find a cause - to see if there are hormonal and nutrition factors that could be causing them to grow poorly."

The study coincided with an annual NFED family conference taking place in Colorado Springs that brings patients and families affected by various ectodermal dysplasias together for a chance to learn and bond with one another. The conference provided a unique opportunity to gather a group a pediatric patients affected by Goltz syndrome together in one place at the same time.

"There was a lot of planning that went into it," noted Dr. Hsu. "The Pediatric CTRC hasn't done a large-scale, one-day study before. It was a bit daunting in the beginning."

About the Goltz syndrome study participants

Only 35 children suffer from Goltz
syndrome across the country. 

Coordinating with researchers from across the country and arranging a full-day of testing for a group of patients that ranged in age from 3-to-18-years old was a challenge for everyone involved. But according to Dr. Hsu, it was a challenge the team at Children's Colorado carried out flawlessly.

"The coordination worked out great and everything went so smoothly," said Dr. Hsu. "Children's team really stepped up to the task. No one had really gone through this type of effort before. Our nurses were incredible. They were so kind and efficient. Everyone put in extra effort to make this happen."

The kids involved in the study also played a big role in the success of the study. Not only were they helpful in carrying out the complex research effort, they also inspired everyone on the team. ​

"The kids were amazing. One of them has been through 100 surgeries at only 11-years-old. They are really resilient, and they were willing to sit with us, have blood drawn, and give us time to figure this out," said Dr. Hsu. "Clearly, this is a group of kids who are making it through impossible conditions."