Metabolic Disorders

Besides the new international consortium, there is a worldwide registry to further study the natural history of Gaucher’s disease. The goal of this registry is to collect clinical data in an effort to help healthcare professionals involved in the diagnosis and treatment of this disease in an effort to better understand the disease and its management. This registry is only an observational program. No experimental procedures are involved for those who participate.

The University of Iowa Childrens Hospital is one of the qualified and participating centers in this worldwide consortium and registry.  For further information and or participation, please e-mail Dr. Raymond Tannous.

Fabry Registry and MPS I Registry
Dr. Thomas Loew works with patients and families affected by lysosomal storage disorders such as Fabry Disease and MPS I (Hurler, Hurler-Scheie, Scheie).  Dr. Loew has worked with Genzyme Pharmaceuticals to help diagnose, counsel and treat these patients and their families.  Currently the Fabry and MPS I Registries are open to enrollment.  The goal of these registries is to collect clinical data on individuals with Fabry disease or MPS I around the world in an effort to help healthcare professionals involved in the treatment or diagnosis of these diseases better understand these diseases and their management.  The registries are observational programs and no experimental procedures are involved. 

Enzyme Replacement Therapy for Individuals with MPS II (Hunter Syndrome)
Dr. Loew is collaborating with the Pediatric Genetics Department to conduct a study involving individuals with MPS II receiving idursulfase enzyme replacement therapy. Transkaryotic Therapies, Inc. is sponsoring this trial which will only be open to subjects who completed the double-blind portion of the trial.

Antithrombin alfa in Hereditary Antithrombin Deficient Patients in High-Risk Situations for Thrombosis
This study is for patients with hereditary antithrombin deficiency who have a history of thromboembolic events, such as acute deep venous thrombosis, and are in a high-risk situation for the occurrence of thromboembolic complications. This includes non-pregnant patients who are scheduled for surgery and pregnant patients scheduled for caesarean section, delivery induction, or hospitalized and in active labor. Intravenous recombinant human antithrombin will be initiated up to 24 hours prior to the scheduled procedure to normalize and maintain antithrombin activity at target levels. This study is being conducted by GTC Biotherapeutics and is not yet open to accrual.

Study of Fabrazyme® in Individuals with Fabry Disease
This study was conducted by Genzyme Pharmaceuticals to determine the efficacy and long-term safety of Fabrazyme® (the enzyme r-hαGAL) to replace the missing enzyme that causes Fabry Disease. Enrollment was limited and the study was concluded in January, 2005.

Sandostatin for Pediatric Hypothalamic Obesity
This clinical trial is for pediatric patients with hypothalamic obesity. Novartis Pharmaceuticals Corporation is sponsoring this clinical trial. Hypothalamic obesity is a rare disorder which occurs due to some type of damage (such as a tumor) to the hypothalamus, which results in an uncontrollable increase in weight. The purpose of this research study is to see how, and if, a study medicine called Sandostatin LAR® might result in weight loss by lowering the level of insulin in the body. We are no longer accruing patients to this trial.

For further information about these clinical trials or information about participation, please contact:

Thomas Loew, MD, Principal Investigator
thomas-loew@uiowa.edu
or
Marian Andersen, Data Manager
marian-andersen@uiowa.edu