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. In spite of this, Dr. Bob Brown, who has championed the study of the Deater family for many years, and Dr. Florian Eichler, a more recent supporter, have decided to go ahead with the study now. Four additional affected family members have volunteered to participate in June. We anticipate that, with appropriate grant funding, every affected member of the family who is interested will be tested.
The doctors would like to increase the size of the group being tested by including other people with HSAN1 in England and Australia. They have been in touch with other researchers, notably Drs. Mary Reilly and Garth Nicholson, who have both been studying HSAN1 families for many years.
This July, at the time of the Deater Family Reunion, Drs. Brown and Eichler will be presenting Amino acid substrate selectivity alters desoxysphingoid bases and disease severity in HSAN1 at the 12th International Congress on Neuromuscular Diseases in Naples, Italy. This is a report on the serine study and related research. We are fortunate to have such dedicated researchers working on a treatment and cure. Dr. Mary Reilly’s presentation at the same International Congress asks if a treatment for HSAN1 is near. We pray that with the support of families and researchers around the world, the answer is “YES!”