The Institute's research and clinical training on the topic of Menkes disease are conducted primarily by researchers in the Unit on Human Copper Metabolism within the Division of Intramural Research (DIR) Molecular Medicine Program. Their work includes, but is not limited to:
- Developing rapid and reliable neurochemical and molecular techniques for very early diagnosis
- Conducting a long-term clinical trial of very early copper histidine treatment for infants with Menkes disease
- Developing and testing alternative therapeutic approaches, including a combination of gene therapy and copper injection in mice that have a condition that mimics Menkes disease. These experiments are expected to lay the groundwork for clinical trials of brain-directed therapies in Menkes disease patients with complete loss-of-function mutations, for whom clinical responses to conventional therapy typically are limited.
- Discovering several mutations in the Menkes disease gene that cause distal motor neuropathy
- Investigating the relationship between the Menkes protein and malfunctions of copper-requiring enzymes
- Discovering an important role of copper metabolism in cardiac development, leading to the conclusion that congenital heart disease may be an underappreciated abnormality in Menkes disease
Through programs of the DIR's Section on Developmental Genomics, the NICHD also supports training for clinicians so they are better prepared to diagnose and treat genetic disorders, and provides comprehensive evaluations and care for patients with suspected or diagnosed genetic conditions.
The Unit on Human Copper Metabolism also established and maintains the Menkes Disease and Occipital Horn Syndrome International Registry. The purpose of this international registry is to gather information about these conditions and to support the care of patients and families around the world who are impacted by them. The registry also is becoming a resource for researchers studying diagnosis and treatment.