Status:
COMPLETED
Copper Histidine Therapy for Menkes Diseases
Lead Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions:
Kinky Hair Syndrome
Eligibility:
All Genders
Phase:
PHASE1
PHASE2
Brief 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 ...
Detailed Description
Menkes disease is an X-linked recessive neurodegenerative disorder caused by defects in a gene that encodes an evolutionarily conserved copper-transporting ATPase (ATP7A). Several issues must be addre...
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.
Key Trial Info
Start Date :
June 1 1990
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
July 1 2013
Estimated Enrollment :
60 Patients enrolled
Trial Details
Trial ID
NCT00001262
Start Date
June 1 1990
End Date
July 1 2013
Last Update
October 30 2015
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892