Copper Histidinate Treatment for Menkes Disease

This is an expanded access trial for Menkes Disease Read More

Inclusion Criteria:

1. The subject must be a newly diagnosed Menkes disease patient in the United States.
2. Must sign and date an informed consent form by parent or legal guardian for this study prior to any assessment being done in this study.
3. Male or female, aged 0 to <6 years of age.

4. Confirmed diagnosis of Menkes disease based on the following clinical and/or biochemical and/or molecular characteristics:

   Clinical: Abnormal hair color and/or texture, and/or seizures, and/or hypotonia, and/or developmental delay; or Biochemical: Low serum copper levels (< 75 mcg/dL) and/or ceruloplasmin and/or abnormal plasma catecholamine levels; or Molecular: Mutation(s) in the ATP7A gene (deletion/duplication, nonsense, missense, or canonical or non-canonical splice junction mutations).

5. For newly diagnosed Menkes disease patients, whose molecular ATP7A gene mutation confirmation is pending these patients should have serum copper levels < 75 mcg/dL.
6. Ability to adhere to the prescribed subcutaneous Copper Histidinate injection regimen.
7. Willingness to comply with all study visits and procedures.

Exclusion Criteria:

1. Pre-existing liver (e.g., hepatitis, biliary atresia, cirrhosis) or kidney disease (e.g., serum creatinine >1.0 mg/dL).
2. History of bleeding diatheses.
3. Diagnosis of Wilson disease.
4. Any disease or condition that, in the opinion of the Investigator, has a high probability of precluding the subject from completing the study or where the subject cannot or will not appropriately comply with study requirements.
5. Participation in any other investigational trial in which receipt of investigational drug or device occurred within 30 days prior to screening for this study.