- Vertical Smart Slide 1
- Lucas and Juno–the story of Lu…
- Posted 211 days ago
I said my prayers and left the rest up to the Man upstairs. A few months later I came across Juno on a Belgian Malinois Rescue Group's web page. She was about 2 hours away from us at a kill…
- Making a weighted blanket
- Posted 30 days ago
Weighted blankets and vests are in widespread use as therapeutic devices for children and adults with sensory conditions, most commonly ADD and autism. Several parents of children with MPS disorders report that their children benefit from the use of a…
- Amelia Rice, 6, Tucson, Az
- Posted 205 days ago
A Note from Amelia's Mom
Amelia is 6 years old and was diagnosed with Mucopolysaccharidosis(MPS) in March 2011. She was born a typical child and for the first year nothing strange was noticed about her development.
When she was two, we felt that…
- Lucas and Juno hit the big tim…
- Posted 24 days ago
Our special friends Lucas Hembree and Juno just hit the big time once again. Here they were yesterday on the front page of the Today show and msnbc website. The wonderful photo of Lucas and Juno has become the signature…
- Intra-cerebral gene therapy fo…
- Posted 83 days ago
A gene therapy human clinical trial for Sanfilippo B is scheduled to begin in January of 2012 at Pasteur Institute in Paris, France.
- The Hope for Nikita concert-De…
- Posted 79 days ago
Hope for Nikita Concert, 4th December 2011
04-Dec-11: An amazing array of talent performed at the Hope for Nikita concert which was held in the Bracken Court Hotel in Balbriggan, Ireland, on Sunday, 4th December, 2011.Nikita, who is 11 years…
- Creating a safe room for a neu…
- Posted 173 days ago
You have to find some way to rest knowing your child is safe. Tomorrow is another long and exhausting day. The answer for many parents is to create a 'safe room' for their child or children. Just be absolutely certain…
- Juno and Jester-special dogs
- Posted 203 days ago
We know two Sanfilippo children who have service dogs that are a big part of their lives. Besides being a wonderful companion and protector, these dogs can assist children in walking and standing, and sometimes can give advance warning if…
- Emily,3,Waterford,California
- Posted 208 days ago
You can learn more about Emily at her Facebook page Saving Emily.
Emily Sawyer is just 3, but is already in the fight of her life. She was diagnosed in January of 2011 with Sanfilippo Syndrome Type A. Emily lives in…
- Korean Pharma Company gets app…
- Posted 26 days ago
The Korean pharmaceutical company Green Cross has developed and received approval from the Korean FDA for an alternative, licensed therapeutic enzyme to treat Hunter Syndrome, a rare disease that until now had only one treatment option available.
Gallery
Informal update on MLD gene therapy clinical trial
The site of the MLD Foundation has recently updated their news with an informal report on the gene therapy clinical trial of MLD patients being conducted by the San Raffaele Telethon Institut for Gene Therapy. The trial is part of a strategic alliance between GlaxoSmithKline PLC (GSK), Fondazione Telethon and Fondazione San Raffaele to research … Continue reading
Participating in the U.S. Rare Disease Registry (CoRDS)
The Coordination of Rare Diseases at Sanford (CoRDS) registry is a United States disease registry that includes all rare diseases. The CoRDS registry is headquartered at Sanford Research in Sioux Falls, South Dakota and is supervised by Dr. David Pearce and Dr. Chun-Hung Chan and managed by Liz Donohue and Lauren Beaumont. If you want to enroll your child in the registry, this post contains the information and links to tell you what you need to know. Continue reading
Genzyme announces 4-year results of oral therapy for Gaucher disease
CAMBRIDGE, Mass.–(BUSINESS WIRE)–Genzyme, a Sanofi company (EURONEXT: SAN and NYSE: SNY), announced today four-year follow-up data from patients enrolled in the phase 2 clinical trial for its investigational oral therapy for Gaucher disease type 1 known as eliglustat tartrate. Sustained or further improvements were observed across all endpoints, including markers of bone disease, at the … Continue reading
Gene therapy for Lysosomal Storage Diseases
Over the years many cell and gene therapy approaches have been tested in animal models of lysosomal storage diseases, and two main approaches have emerged as the most promising for translation into human clinical trials: In vivo gene transfer by direct infusion of viral vectors (AAV and lentivirus vectors) encoding normal enzymes; or modification of bone marrow stem cells in culture with viral vectors encoding normal enzymes (retrovirus and lentivirus vectors) followed by transplantation (this latter approach is often referred to as ex vivo gene therapy). Continue reading
Drug reverses Huntington’s motor skills damage in animals
A drug called GM1, being tested to treat Parkinson’s disease and related neurodegenerative maladies, has successfully restored motor skills in an animal model of Huntington disease during laboratory preclinical testing, at least for a few weeks after the dosing stopped. GM1, a molecule produced in the body, is a type of lipid and is part … Continue reading
Intrathecal enzyme replacement to treat MPS VI
What is MPS VI? MPS VI (mucopolysaccharidosis VI), also known as Maroteaux-Lamy Syndrome, is an inherited lysosomal storage disorder caused by the deficiency of arylsulfatase B, an enzyme normally required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs). If the enzyme is not present in large enough amounts, the normal breakdown of … Continue reading
Inclusion criteria available for MPS 3B Natural History Study
The website clinicaltrials.gov has the complete description of the Natural History Study for MPS 3B. Study Dates The study start date is scheduled to be February, 2012. Study Completion for data collection will be August, 2014, with final completion in September of 2014. Study Description As nearly everyone knows, the study involves no treatment. The … Continue reading
Purple Stands for Courage. The Purple Lemonade Crusade
Purple Stands for Courage: Caroline in Fort Lauderdale is hosting a Purple Lemonade Stand for their friend Blair (who has Sanfilippo syndrome), during the Rio Vista Golf Cart Brigade this Saturday, February 11 from 3-6pm at the Rio Vista Park. They will be selling purple lemonade and baked goods all in a purple theme.
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U.S. MPS Society issues call for MPS III research idea letters
MPS Society issues request for Letter of Intent for MPS III Grand Challenge Grant The U.S. MPS Society has issued an RFI in the form of Letters of Intent for MPS III research. The following information is taken from the MPS society website. Deadline for submissions is March 15. Grants are also available for MPS … Continue reading
Gallery
New report says more Hunter syndrome therapies needed
If you have a spare $4000 laying around, you can get the full copy of this business intelligence report. If not, we have to be content with this press release. I’m assuming that a variety of pharma companies are buying it. I also don’t think some of the statements (in this summary, at least) take … Continue reading
Gallery
Urgent grassroots lobbying effort needed–from Everylife
From the EveryLife staff, posted Feb. 1, 2012 Please call Representative Waxman’s Office at 202-225-3976 and tell his office that, as a parent with a child with a rare disease, you support HR 3737, the ULTRA Act. This morning, Representative Henry Waxman (D-CA), Ranking Member of the Energy and Commerce Committee voiced concerns about efforts … Continue reading
Gallery
Sanfilippo charities join together to fund basic research
To see the full press release: Charities unite worldwide to fund Sanfilippo research Led by the Team Sanfilippo Foundation, a group of worldwide charities has announced a $145,000 (AUD) grant to Dr Kim Hemsley and Professor John Hopwood in Adelaide, Australia to study the fundamental disease processes involved in the pathology of MPS III, also … Continue reading