What is MLD?

1 in 100 people in the general public is a carrier for MLD!

Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a very rare terminal genetic neuromuscular disease that affects the myelin sheath that protects our nerves.  Myelin can be equated to the insulation covering an electric wire … when it degrades and shorts out the nerves can no longer conduct their messages across the brain and out to the rest of the body.

Over 50% of the MLD cases are in infants ages 18-24 months who usually lose all muscular control over the next year or two and often leave us within 5 or 6 years. There are also  juvenile and adult forms of the disease. Adult onset may not come until a person’s 40’s and usually shows as cognitive declines before motor control declines.

There is no generally approved therapy today, but there is extensive research underway including three clinical trials. A gene therapy clinical trial in Milano Italy is showing very promising results.  There are three three drug companies who publicly acknowledge they are working on MLD, and according to the MLD Foundation, there is at least one doing work in their labs.

The MLD Foundation is also actively working to facilitate the development of a newborn screen for MLD so that in the future affected babies will be identified before they are symptomatic and before much myelin damage done so that these patients can be directed to potential therapies as they are approved.  There are technical issues with a “pseudo”-MLD that need to be overcome before the newborn screening assay is viable.

You can learn more about MLD, its genetics, therapies in development, clinical trial, newborn screening and more on the MLD Foundation web site.

MLD Foundation

The MLD Foundation started its work in 1999 and then legally organized in 2001 as a non-proft charity to serve families throughout the world affected by metachromatic leukodystrophy (MLD).  Their slogan, We C.A.R.E.™, reflects their mission of Compassion, Awareness, Research and Education.

The MLD Foundation is a US based charity that actively serves families, influences and funds research/researchers, drives policy, and works with drug companies around the around the globe.  Gifts ll gifts to them are fully deductible on US tax returns.  Provisions have been made with an Australian partner charity for Australians to to make tax deductible deductions in Australian funds.  Those funds will be transferred by the Australian charity to the MLD Foundation. You can learn more about this on the RunOverMLD donation page.

You can learn more about the MLD Foundation history and it’s international Board of Advisors here.

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MLD Foundation links

MLD Awareness Video

MLD 101

Chris with Dean Suhr, the President and Board Chair of the MLD Foundation at a secret planning meeting at the Shanty Cafe in Seattle, Washington.