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 Foundation, spoke on the second panel of the day and was able to both share and stir the pot a bit with regard to some of the patient perspectives on […]
Report from FDA PFFD IEM meeting Read More »
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 »
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 »
I was pleased to be the organizer and host for the RARE Project | Global Genes RARE Patient Advocacy Summit on September 29th, 2012. The day-long event with 140 in attendance and over 120 viewing via a live webcast. Videos of the event are available below for viewing.
RARE Patient Advocacy Summit – 2012 Read More »
This list was prepared using data supplied by the NIH’s Office of Rare Disease Research in late 2011. Please note that your medical providers and insurance payors probably have their own lists of diseases they think are rare – this list is for quick reference only. Quick Jump: A B C D E F G
List of Rare Diseases Read More »
Welcome to the MLD Foundation’s new blog! We’re excited to share about topics of interest to the MLD, lysosomal disease, leukodystrophy, and frankly, the entire rare disease community. Many of you in the general public and the MLD Family know us from the family support we provide to families affected by MLD … MLD Family
