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Research and Clinical Trials

Return to Epidermolysis Bullosa Patients Overview

More on Epidermolysis Bullosa Patients

Epidermolysis Bullosa Patients

Improving Their Lives Through Research and Rehabilitation

New York (Mar 12, 2010)

Team photo
The EB Team: (from left) Kerry Raivel, PT;
Nancy E. Strauss, MD; Susan K. Maksomski,
Head OT; Christine C. Chen, ScD, OTR/L;
and Lyssa Sorkin, MD.

It's a rare disfiguring disease that renders its victims prey to painful blisters that can develop with the slightest trauma. Its symptoms arise early in life, often during infancy. Over time, it has the potential to limit range of motion, impairing patients' function and the quality of their lives – as well as those of their families.

It's called epidermolysis bullosa (EB). Physicians, therapists, investigators, and others in the Department of Rehabilitation and Regenerative Medicine at NewYork-Presbyterian Hospital/Columbia University Medical Center have become renowned as authorities in the rehabilitation management of this inherited condition. Today a clinical trial is under way at NewYork-Presbyterian Hospital/Columbia University Medical Center to determine the effectiveness of stem cell therapy for patients with recessive dystrophic EB – one of the most severe forms, affecting 10 percent of EB patients.

While the exact incidence of EB is not known, a National Epidermolysis Bullosa Registry report estimated that some 50 EB cases occur per 1 million live births. In addition to blisters on the skin, some patients also develop blisters in the mouth, esophagus, and lungs – a significant problem that can result in nutritional deficiencies if not well managed.

A Team Approach

The care of patients with EB requires a multidisciplinary team approach such as that found at NewYork-Presbyterian /Columbia. A quarterly session brings together all those involved to discuss and evaluate the care of EB patients.

"Wound care, infection control, nutrition, and other forms of medical management make up the primary focus of care for patients with EB," explained Nancy Strauss, MD. "But patients also require developmental and functional assessment, with physical and occupational therapy provided for those who need it."

In addition to the severe skin lesions that characterize the disease (which resemble third-degree burns), children often develop deformed joints and connected digits. Painful skin lesions can lead to guarding, altered biomechanics, and the development of compensatory strategies for mobility and to execute the activities of daily living. Most patients receive some level of physical and occupational therapy at home or in the school setting.

To address functional needs that may persist, the NewYork-Presbyterian/Columbia rehabilitation team – which includes Christine Chen, ScD, OTR/L, occupational therapist Susan Maksomski, and physical therapist Kerry Raivel – developed a Functional Skills Instrument which includes age-appropriate assessments in the areas of self care, hand skills, and functional mobility. "The involvement of physiatry and therapy is helping to establish a formal system of measuring functional changes, and hopefully improvement in these patients," said Dr. Chen.

"To date, we believe there is no other functional outcome measurement that is suitable for this patient population," added Dr. Strauss. The team has observed that patients who receive regularly scheduled occupational and physical therapy experience impressive functional improvements over a relatively short time.

"Being part of an institution that is striving to make a difference in the lives of our patients, we are constantly implementing cutting edge treatment technologies," added Lyssa Sorkin, MD. "As rehabilitation doctors, it is our role to not only understand the pathophysiological process, but how both the illness and the treatment affect a patient's function and quality of life. Through education and communication, we can discuss each child's rehabilitation needs in order to encourage behaviors to help the child reach developmental milestones."

Patients with EB come from all over the world to access the expertise of NewYork-Presbyterian/Columbia researchers. "It gives us an opportunity to see how other countries are providing services for patients challenged with rare disorders, and broadens our perspective on healthcare systems and the delivery of services to disabled individuals worldwide," noted Dr. Strauss.

The Potential of Stem Cell Therapy

When the Department of Rehabilitation Medicine at NewYork-Presbyterian/Columbia redefined its research mission and became the Department of Rehabilitation and Regenerative Medicine, new opportunities arose – not only in basic science research, but also in the clinical treatment of disabling conditions. One of those opportunities is a pilot study evaluating stem cell therapy for children with recessive dystrophic EB.

Patients participating in the study receive an allogeneic transplant of modified bone marrow stem cells after undergoing a reduced intensity conditioning regimen with multiple chemotherapy drugs. They undergo a functional assessment before the transplant as well as 180 days, 290 days, one year, and two years post-transplant. Study endpoints include event-free and overall survival. The study is in its early stages and is directed by Mitchell Cairo, MD, Professor of Pediatrics, Medicine, and Pathology at Columbia University College of Physicians and Surgeons, and Chief, Division of Blood and Marrow Transplantation at Morgan Stanley Children's Hospital.

Concluded Dr. Strauss, "Stem cell therapy holds promise for ameliorating a wide range of diseases affecting multiple organ systems. We recognize it has the potential to improve the lives of children with EB, and our rehabilitation members are pleased to be a part of this treatment team."

To make an appointment with the Department of Rehabilitation and Regenerative Medicine at NewYork-Presbyterian/Columbia, call 212-305-3535.

Faculty Contributing to this Article:

Nancy E. Strauss, MD, is the Director of the Residency Training Program in Physical Medicine and Rehabilitation at NewYork-Presbyterian Hospital and the Executive Vice Chair in the Department of Rehabilitation and Regenerative Medicine at Columbia University College of Physicians and Surgeons.

Christine Chen, ScD, OTR/L, is an Associate Professor in Programs in Occupational Therapy at NewYork-Presbyterian Hospital/Columbia University Medical Center.

Lyssa Sorkin, MD, is a third-year resident in the Department of Rehabilitation and Regenerative Medicine at NewYork-Presbyterian Hospital

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