Initiation of a New Study
Submitted by: Ellen Deater Burns, Medical Liaison
In January this year the Deater Foundation submitted a letter in support of a funding request for a new study: “Accumulation of Atypical Sphingolipids in HSAN1: A Therapeutic Target?” In February, the Deater Foundation supported an international symposium to discuss the progress made to date and the direction for future studies in the search for a treatment or cure for HSAN1. Two questions emerged:
- Will the serine treatment that was trialed last summer have a lasting effect on the symptoms of the disease?
- What specific outcomes need to be measured to determine if the treatment is effective?
The family had, over the years, collected information about such things as the age when an individual first discovered the disease, the sex and generation in the family, and, recently, dietary and lifestyle habits and blood tests. There had, however, not been a coordinated objective study of the progression of the disease. In preparation for the proposed new study, several physiologic tests were performed on two affected family members. These include autonomic testing, skin biopsies to study peripheral nerves, nerve conduction studies and a clinical examination.
Application for funding for these studies has been applied for but not yet awarded.