Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Status:
Completed
Trial end date:
2020-08-28
Target enrollment:
Participant gender:
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.
Phase:
Phase 3
Details
Lead Sponsor:
Cyprium Therapeutics, Inc. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborators:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Center for Complementary and Integrative Health (NCCIH)