Research Overview
 

Clinical Research, in addition to clinical care, is conducted at both the New York-based (NYU) and Israeli-based (Hadassah-Mt. Scopus) Dysautonomia Treatment and Evaluation Centers. Some of the studies are independent and some are collaborative.

Dr. Felicia Axelrod is the principal investigator at the NY Dysautonomia Center and has worked closely with Prof. Dr. Hilz, a neurophysiologist, since 1993. Dr. Channa Maayan is the principal investigator at the Israeli Dysautonomia Center. Both Dr. Axelrod and Dr. Maayan maintain close collaborations with appropriate specialists in many other areas.

• Patients are given the opportunity to participate in clinical studies. Data is collected analyzed and banked while maintaining patient confidentiality.

• Past clinical research has led to the development of new treatment programs which have resulted in enhancing the quality of life and longevity for the FD patient.

At present both Centers have a number of on-going clinical research projects. Some of the studies are described below:

• In 1989 a prospective study was established to develop a means of assessing severity of FD based on measurable parameters. Data accumulation is finished and the results are being analyzed. Information from this study will allow assessment of present various interventions such as gastrostomy to determine if we are continuing to have a positive impact.

• Developing better treatment of erratic blood pressure changes- both high and low. Past studies have demonstrated benefits of fludrocortisone (Florinef) and midodrine (Proamatine or Gutron). Various new drugs are being evaluated as well as effect of physical exercise.

• Developing better treatment of attacks of nausea and vomiting. Past studies have demonstrated benefits of diazepam (Valium) and clonidine (Catapres).

• Latest data suggests that use of anti-seizure medications will be beneficial. Clinical trials of such medications are in progress.

  • Trials of Secretin to improve tolerance of gastrostomy feeding and improve cognition are in place

  • Trials of Serotonin antagonists to decrease GI pain and irritation are being started.

• Retrospective analysis of increased incidence of pancreatitis in FD to determine if it is due to diet, medication or part of the disorder.

• Assessment of various cardiac rhythm components and perfusion (blood flow) to various organs (including heart and brain) to determine if there is a way to predict which patients are at greatest risk for life-threatening events. This will lead to selection of an appropriate treatment and its trial.

Genetic Research, since 1990, has primarily focused on identifying the FD gene by funding a grant at the Molecular Neurogenetics Unit of the Massachusetts General Hospital under the direction of Dr. James Gusella. The research team also includes Drs. Xandra Breakefield, Anat Blumenfeld and Susan Slaugenhaupt. In 1993, research from this laboratory resulted in localization of the FD gene to chromosome 9 q31 with sufficient markers in the area to allow prenatal diagnosis and carrier testing for affected families. Continued research led to further narrowing of the region on the chromosome and more markers so that by 1999, testing of prospective spouses for known carriers was possible. In early 2001, the gene and two mutations were identified. Further investigation is required to gain understanding of the gene's function; understanding its function could allow for development of specific therapies for affected individuals.

Basic Science Research is also funded at various institutions to further understand mechanisms of nerve cell function and possibly give insight as to the function of the FD gene.