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Protocol Number:
90-CH-0149
- Title:
Early Copper Histidine Therapy in Menkes Disease
- Number:
90-CH-0149
- Summary:
Menkes Disease is a genetic disorder affecting the metabolism of copper. Patient with this disease are both physically and mentally retarded. Menkes disease is usually first detected in the first 2-3 months of life. Infant males born with the disease fail to thrive, experience hypothermia, have delayed development, and experience seizures. These infants also have characteristic physical features such as changes of their hair and face. Females may also have changes in hair and skin color, but rarely have significant medical problems.
Appropriate treatment of Menkes Disease requires that the disease be diagnosed early and treatment started before irreversible brain damage occurs. The aim of treatment is to bypass the normal route of absorption of copper through the gastrointestinal tract. Copper must then be delivered to brain cells and be available for use by enzymes.
Copper histidine is a copper replacement that can be injected directly into the body to avoid absorption through the gastrointestinal tract. However, studies have shown the genetic abnormalities causing Menkes disease cannot simply be corrected by copper replacement injections.
The genetic abnormality causing Menkes disease can vary in its severity. Patients with a genetic abnormality that may still permit some production of the enzymes required to process copper may receive benefit from early treatment with copper replacement. However, patients with severe abnormalities of the genes responsible for copper metabolism may receive no benefit from copper replacement.
The purpose of this study is to continue to evaluate the effects of early copper histidine in Menkes disease patients and to correlate specific molecular defects with responses to treatment.
- Sponsoring Institute:
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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:
Newborn infants in whom Menkes disease is confirmed on biochemical or molecular grounds and in whom no neurological symptoms are present are eligible for enrollment in this study.
EXCLUSION CRITERIA:
Newly identified patients classified as symptomatic at the time of diagnosis, and affected individuals with mild phenotypes are not currently eligible for this clinical trial.
- Special Instructions:
Currently Not Provided
- Keywords:
-
Menkes
-
Copper
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X-Linked
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Neurogeneration
- Recruitment Keyword(s):
-
None
- Condition(s):
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Kinky Hair Syndrome
- 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):
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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):
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Early copper histidine therapy in classic Menkes disease
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Dopamine-beta-hydroxylase deficiency associated with mutations in a copper transporter gene
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Invited commentary: the prenatal diagnosis of Menkes disease
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 05/05/2009
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