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 what a g-tube is, what a MIC-KEY™ button looks like, and how easy it is to change (or in an emergency replace) a g-tube.
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 the lab, and on some parallel work with ALD that showed good results.
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 would be anonymous/de-identified to the researchers.
Criteria for participating is:
- A confirmed diagnosis of MLD (No age restriction)
- No treatment (no transplant)
- Living within the US (due to need for quick return once samples are drawn)
- Willingness to prick the skin to obtain blood
- Willingness to follow instructions to obtain samples
- Agree to mail samples within 24 hours of obtaining them
- Agree to release the MLD Foundation and the University of Washington from any liability
If you would like to participate, please send an email to research@MLDfoundation.org
We will respond with the release and send you the packet to obtain the samples.
We hope to have the sample collections completed in the next two weeks.
Thank you for considering to help develop a Newborn screen for MLD.
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 part of several hundred million more committed by private partners and foundations to this project to better understand how the brain works.
NIH Director Francis Collins – “It aims to bring together nanoscience, engineering, and neurology to make sense of how the brain works—how those circuits in the brain allow us to do all the complicated things that we currently don’t understand.”
There is a lot to understand and while we love the focus on the basic science of the brain – we anxiously await, and hope to contribute to, the goals of this project. And we can’t forget the European Commission’s €1bn award to their Human Brain Project.
What do you think? How would you like to see all of this support work together?
Not everyone is pleased: http://www.guardian.co.uk/commentisfree/2013/apr/02/president-obama-brain-mapping-project-not-ideal