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 diseases. We’ve prepared and sent out an openNHS Manifesto to frame our discussions. Please read this document and let us […]
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 natural history studies be OPEN access, meaning the study data be maximized by being made available to other researchers from other academic
Join our call for OPEN Natural History Studies Read More »
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 as well: I have a question and I don’t know if anyone has an answer but I am wondering if anyone
Are normal enzyme levels enough to stabilize MLD? Read More »
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 decline access to therapy for its citizens … not because it does not work – they acknowledge it is an “effective therapy” – rather, they
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 uniform newborn screening panel (RUSP). This recommendation will be sent to the Secretary of Health and Human Services to approve adding Pompe to the RUSP. After
DACHDNC recommends Pompe Disease for Newborn Screening Recommended Panel Read More »
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 Newborns and Children) consists of four primary criteria: An acceptable treatment protocol in place that changes the outcome for patients diagnosed early with the disease An understanding of the condition’s
Newborn Screening – Should a Viable Therapy be a Requirement for a NBS? Read More »
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 is someone we at the MLD Foundation regularly come into contact with as we work on behalf of those with MLD.
Rare Disease Advocacy – Behind the Scenes Read More »
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 unique about MLD with regard to g-tubes so I though I would share a series of photos to help anyone who want to know
Changing a G-Tube (Gastric Feeding Tube) Read More »
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 co-Principal Investigators. We have posted complete details of the trial, including inclusion criteria, here. This trial is based on many years of work in
Intracerebral Gene Therapy Phase I/II Clinical Trial for MLD Read More »
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 traditional screening approaches caused by the MLD pseudo-deficiency. For their work they need samples of blood and urine from 15 affected MLD individuals. All samples
MLD Newborn Screening – We need your blood & urine! Read More »
