Protocol Number: 09-CH-0059

Title:

Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency

Number:

09-CH-0059

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 50 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.

Sponsoring Institute:

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Serum copper levels less than 75 micrograms/dl

EXCLUSION CRITERIA:

-pre-existing liver or kidney disease

-history of bleeding diatheses

-pregnancy

-diagnosis of Wilson disease

-any disease or condition that, in the opinion of the Investigator, has a high probability of precluding the patient from completing the study or where the patient cannot or will not appropriately comply with study requirements

-participation in any other investigational trial in which receipt of investigational drug or device occurred within 30 days prior to screening for this study

-history of diagnosed drug or alcohol dependence within the previous 3 years

-disease processes that may adversely affect gastrointestinal absorption

-chronic/severe cardiac disease including but not limited to cardiac insufficiency, arrhythmias, bradycardia, or hypotension, or a history of cerebrovascular accident (CVA).

Special Instructions:

Currently Not Provided

Keywords:

Copper Deficiency

Menkes Disease

Neurodevelopment

Occipital Horn Syndrome

Recruitment Keyword(s):

None

Condition(s):

Menkes Disease

Occipital Horn Syndrome

Unexplained Copper Deficiency

Investigational Drug(s):

Copper Histidine

Investigational Device(s):

None

Intervention(s):

Drug: Copper Histidine

Supporting Site:

National Institute of Child Health and Human Development

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Kaler SG, Goldstein DS, Holmes C, Salerno JA, Gahl WA. Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Ann Neurol. 1993 Feb;33(2):171-5.

Kaler SG, Westman JA, Bernes SM, Elsayed AM, Bowe CM, Freeman KL, Wu CD, Wallach MT. Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease. J Pediatr. 1993 Jan;122(1):93-5.

Kaler SG, Gahl WA, Berry SA, Holmes CS, Goldstein DS. Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease. J Inherit Metab Dis. 1993;16(5):907-8.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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