Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
- Conditions
- Unexplained Copper DeficiencyMenkes DiseaseOccipital Horn Syndrome
- Registration Number
- NCT00811785
- Lead Sponsor
- Cyprium Therapeutics, Inc.
- 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 Description
Study Description:
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.
Objectives:
-Primary Objective: Evaluate responses to Copper Histidinate treatment for clinical care.
Endpoints:
-Completion of three years treatment by 13 remaining subjects
Study Population:
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.
Study Duration:
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.)
Participant Duration:
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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 93
Not provided
Not provided
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Primary Outcome Measures
Name Time Method To assess neurological improvement in patients with OHS or unexplained copper deficiency treated with subcutaneous CuHis injections. Three years Neurological Improvement: reduction in dysautonomia symptoms in OHS, and improved nerve conduction tests in unexplained copper deficiency
- Secondary Outcome Measures
Name Time Method 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. Continuously Under-three Mortality. This endpoint will be assessed continuously
Trial Locations
- Locations (1)
National Institutes of Health Clinical Center, 9000 Rockville Pike
🇺🇸Bethesda, Maryland, United States