Clinical Trial: Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional
Official Title: Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Brief Summary:
Menkes disease and occipital horn syndrome are two forms of copper deficiency that must be diagnosed and treated very early in life to prevent serious developmental problems. However, these and other forms of copper deficiency are not very well understood, and further research is needed to determine whether certain treatments are useful in treating copper deficiency. One such treatment is copper histidine, a copper replacement that can be injected directly into the body to avoid absorption through the gastrointestinal tract. This study will investigate the effectiveness, side effects, and dosage of copper histidine treatment for patients with copper deficiency. It will also collect medical history information from patients to allow researchers to study possible genetic and nongenetic origins of copper deficiency.
This study will include 100 subjects, all of whom will be children and adults who have been diagnosed with Menkes disease, occipital horn syndrome, or other unexplained copper deficiency.
Patients will receive a prescribed dose of copper histidine, which will be administered daily as an injection.
During the study, patients will be admitted to the NIH Clinical Center on an outpatient basis to evaluate their response to the copper histidine treatment. These evaluations will take place every 8 months, with a final evaluation performed after 3 years of treatment. During the outpatient visits, patients will be required to give blood and urine samples for testing and undergo ultrasound testing. They will also undergo brain MRI scans at the initial visit and at the 16-month and 36-month visits. Patients who agree will give additional blood samples for genetic research purposes.
Detailed Summary: Menkes is a fatal genetic form of copper deficiency caused by mutations in a copper-transporting ATPase (ATP7A). Pre-symptomatic diagnosis and therapy with copper injections is associated with improved overall survival and, based on their molecular defects, with vastly better neurological outcomes in some patients compared to the usual natural history. One purpose of this study is to further evaluate the relationship between specific molecular defects and clinical responses to early copper treatment in Menkes disease. In addition, we seek to study the influence of parenteral copper treatment in related genetic disorders, and in unexplained copper deficiency conditions, often associated with non-specific neurological abnormalities.
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Current Primary Outcome: Neurodevelopment, or neurological improvement [ Time Frame: Three years ]
Original Primary Outcome: Neurodevelopment, or neurological improvement
Current Secondary Outcome: Survival [ Time Frame: Three years ]
Original Secondary Outcome: Survival
Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: December 18, 2008
Date Started: December 17, 2008
Date Completion: December 31, 2018
Last Updated: May 12, 2017
Last Verified: March 23, 2017
