Rare Disease Documentary: Living With Menkes Disease

March 16, 2015

Menkes Disease (MD) is a rare disorder that affects the copper levels in the body. While 2/3 of MD cases are inherited, 1/3 of MD cases are spontaneous genetic mutations. People with the disorder have sparse and kinky hair, fail to thrive, and have deterioration of the nervous system. Children with MD start to develop symptoms in infancy and often may not live past 3 years of age. It is caused by mutations in the ATP7A gene, which provides instructions for making a protein that is important for regulating copper levels in the body. MD occurs in 1/100,000 – 250,000 live births. There is currently no cure for MD, but symptoms can be treated with palliative care.

Daniel DeFabio has created an 11-minute, personal and touching documentary, “Menkes Disease: Finding Help & Hope”, that follows three families dealing with MD. Two of the families have children enrolled in a NIH clinical trial. The documentary also interviews two speakers from NORD.

There are currently two FDA Orphan Drug Designated (ODD) products for Menkes Disease:


Generic Name:	rsATP7A cDNA	Copper Histidine
Trade Name:	N/A	N/A
Date Designated:	01-10-2014	05-14-2012
Orphan Designation:	Menkes Disease	Menkes Disease
Orphan Designation Status:	Designated	Designated
FDA Orphan Approval Status:	Not FDA Approved for Orphan Indication	Not FDA Approved for OrphanIndication
Sponsor:	Stephen G. Kaler, MD Translational Neuroscience, Molecular Med. Program 10 Center Drive, MSC 1853 Bethesda, MD 20892	Stephen G. Kaler