Search / Trial NCT00001262

Copper Histidine Therapy for Menkes Diseases

Launched by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT (NICHD) · Nov 3, 1999

Trial Information

Current as of December 06, 2024

Completed

Keywords

Menkes Copper X Linked Neurodegeneration Atp7 A

ClinConnect Summary

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 addressed in configuring therapeutic strategies for this disorder: (a) affected infants must be identified and treatment commenced very early in life before irreparable neurodegeneration occurs, (b) the block in intestinal absorption of copper must be bypassed, (c) circulating copper must be delivered to the brain, and (d) copper must be available to enzymes within cells that require it as a cofacto...

Gender

ALL

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.

Trial Officials

Stephen G Kaler, M.D.

Principal Investigator

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

About Eunice Kennedy Shriver National Institute Of Child Health And Human Development (Nichd)

The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is a prominent research agency within the National Institutes of Health (NIH), dedicated to advancing the health and well-being of children, families, and individuals across the lifespan. NICHD supports a wide range of clinical trials and research initiatives aimed at understanding the complex biological, behavioral, and environmental factors that influence human development and health. By fostering innovative research and facilitating collaboration among scientists, healthcare professionals, and communities, NICHD plays a vital role in translating scientific discoveries into effective interventions and policies that enhance child health, reproductive health, and the prevention of diseases.

Locations

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0

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