Rare Genetic Steroid Disorders Consortium & Registry

June 29, 2006

The Rare Genetic Steroid Disorders Consortium needs your help.

The Rare Disease Network website includes a Contact Registry for the Rare Genetic Steroid Disorders Consortium. The Contact Registry is a secure, computerized database held by the data coordinating center that is a member of this consortium grant.

By registering on the Contact Registry, registrants do not commit themselves, their children, or their friends to participate in research. They are simply notifying this computerized, private registry of their interest in being contacted about potential research opportunities that are being conducted by the Rare Genetic Steroid Disorders Consortium.

When they are contacted by the registry, they will be free to decide whether they wish to contact the specified researchers in order to be considered for the project. Since we researchers will have no access to the Contact Registry and will not know who is in it, we will not know an individual has been informed about our research until that individual contacts one of us.

The mere fact that a person joins the Contact Registry signals the NIH that individuals with these medical condition are interested in seeing research performed and supported by their tax dollars. The NIH is thus encouraged when a consortium’s registry has lots of members. Registering in our Contact Registry shows your support of research directed at improving care of people with rare genetic steroid disorders.

Rare Diseases Clinical Research Network

The Rare Genetic Steroid Disorders Consortium

Rare Genetic Steroid Disorders Consortium – Patient Contact Registry

The Rare Genetic Steroid Disorders Consortium (RGSDC) is an international group of academic medical centers, patient support organizations, and clinical research resources formed to conduct clinical research in genetic disorders of steroid metabolism, to improve the care of individuals affected with these disorders, to train young investigators in the study and care of these disorders, and to serve as a resource of information about these disorders.

The RGSDC will establish a large international cohort of patients to study the following rare genetic steroid disorders:

  • 21-hydroxylase deficiency
  • 11b -hydroxylase deficiency
  • steroid 17a -hydroxylase deficiency
  • steroid 17b -hydroxysteroid dehydrogenase deficiency
  • androgen receptor defects
  • 5a -reductase 2 deficiency
  • steroid 3b -hydroxysteroid dehydrogenase deficiency
  • apparent mineralocorticoid excess.

Funded by the National Institutes of Health (NIH), the RGSDC is part of the Rare Diseases Clinical Research Network. The overall operations of the RGSDC are directed by Dr. Maria New from the Mount Sinai School of Medicine.

The primary study sites are the Mount Sinai School of Medicine, the University of Texas Southwestern Medical Center, the University of Lyon, the University of São Paolo, and the Columbia University College of Physicians and Surgeons-affiliated New York State Psychiatric Institute.

Remember, we do not know who is on our Contact Registry. By registering you are not committing yourself, your child or your friend to participate in research.

You are simply notifying the keeper of this private registry that you are interested in being contacted about potential research studies conducted by the Rare Genetic Steroid Disorders Consortium.