Research Challenges of Childhood Scleroderma
James R. Seibold, M.D.
Director, Rheumatology & Scleroderma Program
New Brunswick, NJ
Scleroderma in both children and adults remains an enigma. We lack reasonable information as to the cause and have little to no reliable information about treatment. Nonetheless, research progress over the last decade has been impressive and pieces of the complex puzzle of scleroderma are beginning to fit together.
Scleroderma in children has been relatively ignored and this situation cannot be allowed to persist. Systemic sclerosis, the medical term for scleroderma involving both the skin and the internal organs, is fortunately very uncommon in children and there is little to suggest that it differs in pathophysiology and clinical course from the same disease in adults. Basic research progress in systemic sclerosis includes new information about genetic contributions, provocative information about the potential role of implanted immune cells from baby to mother or vice versa during otherwise normal pregnancy, new recognition of the role of blood vessel injury in both initiating the specific immune response of the disease and an ever increasing understanding of the complex derangements and interplay of the immune system, blood vessel injury and scarring components of the disease. My view is that continued focused progress in adult disease will directly benefit children with systemic sclerosis.
The overwhelming majority of childhood scleroderma is so-called “localized scleroderma”, a series of inter – related diseases that fortunately has NO OVERLAP with systemic sclerosis. The issues of localized scleroderma in children pose unique challenges to the researcher. Answers to the key questions promise benefit to the estimated 200,000 active American cases.
In my view, we lack reasonable data in the following areas:
- EPIDEMIOLOGY . This branch of medical research investigates the behavior of diseases within the population and frequently offers the best clues as to cause. While we know how common childhood scleroderma is from epidemiologic study, we need large scale research initiatives to help to define how children with scleroderma differ from those without. Is the disease geographic? Can it be related to the community infections or shared exposures? Is it even weakly genetic? Are there commonalities of experience that suggest a trigger of illness?
- PATHOPHYSIOLOGY . This are encompasses investigation of what actually happens once the disease is established. Localized scleroderma has three recognized stages: Inflammation followed by scarring and ultimately resolving with tissue atrophy (irreversible loss of normal tissue structure). Truly effective treatments will never be developed unless our laboratory colleagues can define the precise mechanisms of how the disease behaves. Once the basic science is understood, then the applied scientists can leverage this information into rational treatment strategies. Complete answers are not necessary for progress to be made as is witnessed by the explosion of good research ideas in adult systemic disease.
- NATURAL HISTORY AND OUTCOMES . Much of my own research lies in the area of assesing potential drug treatments for scleroderma. Childhood disease offers unique challenges. Prominent amongst these is trying to figure out if a short term intervention in a 5 year old changes the ultimate outcome for that same child as an adult. Does suppression of inflammation change the next step of scarring? Does suppression of inflammation or an effective strategy to reverse scarring then ultimately lead to more normal patterns of growth and development? Clinical research is a unique science in itself. We lack well – defined short and long term measures of outcome; reliable laboratory markers that guide us in clinical care; and a structure through which creative new ideas for disease intervention can be efficiently and ethically tested.
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