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Home > "C" Clinical Trials Conditions > Copper Histidine Therapy for Menkes Diseases  Copper Histidine Therapy for Menkes Diseases
Copper Histidine Therapy for Menkes Diseases
For Condition: Kinky Hair Syndrome
Status: Recruiting
Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS) ,
Synopsis: 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.
Details: Menkes disease is an X-linked recessive disorder of copper transport that is usually fatal in infancy or early childhood. Several issues must be addressed in configuring therapeutic strategies for this condition: the block in intestinal absorption of copper must be bypassed, circulating copper must be delivered to the brain, copper must be available to enzymes within cells that require it as a cofactor, and affected infants must be identified and treatment commenced very early in life before irreparable neurodegeneration occurs. Copper histidine, a physiologically suitable preparation, fulfills the first requirement when administered parenterally, and the recent recognition that plasma catechol levels provide a reliable diagnostic marker in asymptomatic Menkes newborns helps significantly with early recognition. The recent cloning of the Menkes gene showed that the gene product is a member of a small family of copper-transporting ATPases. Since this molecule acts to translocate copper across biological membranes, and requires several critical functional domains as well as ATP for this process, copper replacement alone would not be expected to correct the basic defect in cases where the gene product is totally absent or nonfunctional. In the brindled mouse mutant, a model of classical Menkes disease, parenteral copper replacement enhances the activity of copper-dependent enzymes cytochrome c oxidase, lysyl oxidase, and tyrosinase and restores normal viability if provided during the first week of life, suggesting that this specific murine mutation is responsive to early copper treatment. Copper treatment given later (e.g., on day 12) is ineffective. In humans, outcomes after early copper replacement have ranged from poor to favorable, without a unifying explanation. Recent molecular evidence suggests that a subset of Menkes patients with certain types of mutations are likely to derive maximal benefit from early copper replacement. Such mutations reduce but do not completely eliminate production of a functional copper transporter.
Eligibility:
Study Type: Interventional, Treatment, Safety/Efficacy
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Menkes patients who are identified at birth shortly thereafter will be eligible for participation in the protocol.
Total Enrollment: 52
Location and Contact Information:
National Institute of Neurological Disorders and Stroke (NINDS) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 900149; 90-N-0149
Study Start Date: June 6, 1990
Record last reviewed: June 25, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00001262
Other Kinky Hair Syndrome Studies:
1. Copper Histidine Therapy for Menkes Diseases
Related Studies:
Other Kinky Hair Syndrome Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Copper Histidine Therapy for Menkes Diseases
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