2000 “First Scientific Workshop on Hallervorden-Spatz Syndrome”

May 19-20 in Bethesda, MD
Sponsored by the National Institute of Neurological Disorders and Stroke (NINDS) and the Office of Rare Diseases (ORD) at NIH along with the NBIA Disorders Association.

2000 HSS Workshop

Scientists map out research strategy to tackle HSS

- By Dr. Susan J. Hayflick

An historic event took place at the National Institutes of Health May 19 and 20. Nearly 50 scientists, physicians and others interested in HSS from around the world gathered for the First Scientific Workshop on Hallervorden-Spatz Syndrome, sponsored by the Office of Rare Disorders and the National Institute of Neurological Disorders and Stroke. This marked the first time researchers met to discuss what is known about HSS and what is needed to further HSS studies. Since few scientists study HSS, the meeting also had the goal of stimulating interest in the disorder among young researchers whose work relates to some aspect of the disease.

After defining what we know about HSS - including its clinical, pathological and genetic features - we discussed iron metabolism and how the basal ganglia in the brain work. The group learned about other disorders of brain iron accumulation in humans and mice and discussed possible therapies for HSS, including chelation, nitric oxide and medications to limit the body’s production of damaging compounds (free radicals) as a result of the iron. We developed recommendations to draw more scientists into HSS research and to move research forward by providing a research grant mechanism to study HSS that would be aimed at young investigators. All agreed that the first order of business was to identify the gene on chromosome 20 that causes classical HSS. This is the focus of several laboratories, including my own.

Workshop participants agreed that the most important resource need to advance research into HSS is brain tissue from individuals with HSS. This tissue must be handled by experienced pathologists who can prepare the samples for optimal studies. Unfortunately, most brain samples that have been collected in the past from deceased patients cannot be used for many of the needed studies because they were not handled promptly or properly. Brain tissue from patients who have died only hours before is needed, and it must be handled properly to prevent iron from being unintentionally removed from the tissue. Other tissue also is needed, but brain tissue is needed most urgently. Families willing to donate brain tissue are encouraged to work with one of the national brain banks. The meeting participants emphasized the need for arranging for brain donation well before the donor’s death. More information about this can be obtained from HSSA.

Once the gene is identified, the development of an animal model with HSS will enable scientists from many disciplines and throughout the world to study HSS. Creation of this model is already planned but must await identification of the HSS gene.

Several members of the group suggested that further delineation of the features of HSS also would be valuable. They recommended functional MRI studies of the brains of affected people and systematic searches for features of HSS outside of the brain and eye, such as in the blood stream or marrow. These studies would contribute to our understanding of the disorder. However, it is critical that we first have a way of grouping individuals with HSS to know what disease we are studying. We know that HSS comprises several disorders, and it is essential that clinical studies take that into account. Meeting participants voiced an interest in exploring new drugs, including free radical scavengers and chelators that are effective in getting into the brain. At the same time, the group felt that surgical therapies had been discouraging for most HSS patients.

The workshop was a resounding success, achieving all of the stated goals. The small group size encouraged meaningful exchanges, and the diversity of our participants assured that everyone contributed and all learned. There is much work ahead of us, but we are all looking forward to the Second Scientific Workshop on Hallervorden-Spatz Syndrome.



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