Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
|ClinicalTrials.gov Identifier: NCT00811785|
Recruitment Status : Active, not recruiting
First Posted : December 19, 2008
Last Update Posted : December 17, 2018
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.
|Condition or disease||Intervention/treatment||Phase|
|Menkes Disease Occipital Horn Syndrome Unexplained Copper Deficiency||Drug: Copper Histidine||Phase 3|
The purpose of this study is to allow currently enrolled participants to complete their three-year course of subcutaneous Copper Histidinate treatment under the protocol. We hypothesize that subcutaneous injections of this drug will raise serum copper levels and ceruloplasmin levels in enrolled participants, improve neurodevelopmental and neurological outcomes, and reduce mortality compared to untreated affected subjects.
-Primary Objective: Evaluate responses to Copper Histidinate treatment for clinical care.
-Completion of three years treatment by 13 remaining subjects
The 13 remaining subjects
Phase: Clinical Care/Treatment only
Description of Sites/Facilities Enrolling Participants: The study will occur at the NIH Clinical Center
Description of Study Intervention:
The study intervention is administration of Copper Histidinate in dose(s) prescribed as follows: 250 microgram sc b.i.d. in infants up to 12 months of age, and 250 microgram sc q.d. for infants and children older than 12 months. The total duration of copper histidinate treatment will not exceed three years.
The estimated time from when the study opens to enrollment until completion is approximately 151 months (02/27/2009-09/30/2021). (May end sooner pending FDA new drug approval.)
The time it will take for each individual participant to complete all participant visits is approximately 36 months. There are 13 subjects with a total of 31 visits to complete.
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||93 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency|
|Study Start Date :||February 27, 2009|
|Estimated Primary Completion Date :||September 30, 2021|
|Estimated Study Completion Date :||September 30, 2021|
- Drug: Copper Histidine
A physiologically acceptable form of the trace metal copper.
- To assess neurological improvement in patients with OHS or unexplained copper deficiency treated with subcutaneous CuHis injections. [ Time Frame: Three years ]Neurological Improvement: reduction in dysautonomia symptoms in OHS, and improved nerve conduction tests in unexplained copper deficiency
- To assess survival in classic Menkes disease subjects treated with subcutaneous CuHis injections in comparison with classic Menkes patients who did not receive any type of copper treatment. [ Time Frame: Continuously ]Under-three Mortality. This endpoint will be assessed continuously
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00811785
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Stephen G Kaler, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|