Fiscal Cliff & Sequestration
Backgrounder … What is this & why do or should I care? Fiscal cliff – the effect of a series of enacted legislation which, if unchanged, will result in tax increases, spending cuts, and a...
View ArticleChanged our blog subscription widget
You may be receiving two notifications about this blog post. We changed our blog subscription tool a few minutes ago. I’ve manually copied all of the current followers to the new tool but I cannot...
View ArticleI’m Thankful …
Today in the United States we celebrate Thanksgiving. Canada celebrated a few weeks ago and according to Wikipedia at least 7 other countries celebrate a similar holiday at various other times of the...
View ArticleUS Announces BRAIN initiative with $100m of 2014 funding
President Obama today announced the Brain Research through Advancing Innovative Neurotechnologies (BRAIN) initiative and an anticipated $100M of US government funding in the next fiscal year. That is...
View ArticleMLD Newborn Screening – We need your blood & urine!
The MLD Foundation is collaborating with researchers at the University of Washington who are working on developing a newborn screen for MLD that would hopefully address the problems encountered with...
View ArticleIntracerebral Gene Therapy Phase I/II Clinical Trial for MLD
We are pleased to share that a Phase I/II Intracerebral Gene Therapy clinical trial for MLD is now recruiting late infantile MLD patients. Dr. Patrick Aubourg and Dr. Caroline Sevin are the...
View ArticleChanging a G-Tube (Gastric Feeding Tube)
Changing a gastric feeding tube also known as a g-tube (sometimes gastrostomy tube), is an area of uncertainty that always seems to generate questions among the MLD Family. Since there is nothing...
View ArticleRare Disease Advocacy – Behind the Scenes
I ran across this article a few minutes ago. It’s a great insight into the challenges those of us working in rare disease advocacy working encounter. Every person and agency mentioned in this article...
View ArticleNewborn Screening – Should a Viable Therapy be a Requirement for a NBS?
The requirements for adding a Newborn Screen (NBS) to the RUSP (Recommended Uniform Screening Panel by the SACHDNC/DACHDNC (Secretary’s Discretionary Advisory Committee on Heritable Disorders in...
View ArticleDACHDNC recommends Pompe Disease for Newborn Screening Recommended Panel
The Secretary’s Discretionary Advisory Committee for Heritable Disorders in Newborns and Children (DACHDNC/SACHDNC), in a vote of 11 – 2, recommended the addition of Pompe Disease to the recommended...
View ArticleSay it’s not true … New Zealand proposes NO access to an “effective therapy”...
Has my Sunday morning coffee not kicked in? Am I reading this wrong? Tell me it’s not true … Alexion has an “effective therapy” for paroxysmal nocturnal haemoglobinuria New Zealand is proposing to...
View ArticleAre normal enzyme levels enough to stabilize MLD?
A very interesting question came up today on the MLD Family Discussion List™ (a private list we run for MLD primary caregivers). I thought it might inspire some thinking so I am sharing my answer here...
View ArticleJoin our call for OPEN Natural History Studies
A new Natural History Study (NHS) for MLD was launched a few weeks ago. We have taken the bold step of recommending that families NOT participate in this study … for now: It is our belief that all...
View ArticleopenNHS Manifesto
On the 24th of this month we are convening a meeting of MLD researchers, industry, and academia in Washington DC to discuss openNHS, a project we hope starts with MLD but quickly expands to all rare...
View ArticleReport from FDA PFFD IEM meeting
Great Patient Focused Drug Development (PFDD) meeting at the FDA Tuesday discussing patients perspective on the neurological inborn errors of metabolism (IEM). Dean Suhr, president of the MLD...
View ArticleERT Phase I/II Clinical Trial Recruiting Completed
The Enzyme Replacement Therapy HGT-1110 Phase I/II clinical trial has been fully recruited. Patients are participating from three continents; Europe, South America, and Australia. The primary purpose...
View ArticleopenNHS Manifesto – Meeting Report
A meeting of researchers, clinicians, industry and academia was convened by the MLD Foundation on June 24th in Washington, DC to discuss the openNHS Manifesto we wrote about in this blog post. Since a...
View ArticleReflections on Rare Disease Week 2015
Today, February 28th, is Rare Disease Day (actually RDD is the 29th – but we don’t have one of those this year!). Today we celebrate and recognize the 1 in 10 of us that have one of the 7,000+ rare …...
View ArticleCenters of Excellence for Leukodystrophies and Lysosomal Disease
Earlier last month we had the opportunity to see several presentations about the Leukodystrophy Center of Excellence (CoE) at Children’s Hospital of Philadelphia (CHOP), which opened today, May 1st....
View ArticleMld Family Conference™ – Register Now!
Registration for our 2105 MLD Family Conference in Newark Delaware is underway and closes in just a couple of weeks. If you are a MLD Family we’re anxious to have you register. Many of your MLD Family...
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