Category Archives: current events

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Informal update on MLD gene therapy clinical trial

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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)

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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

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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

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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

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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

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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 →

Team Jazzy pedals across the UK

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What

Dave Heap, Tom Appleby & Richard Bartley are childhood friends – they are getting together on 4th May 2012 to cycle from Lands End to John O’Groats – a whooping 980 miles, in order to raise much needed funds for Acorns Childrens Hospice and Alderhey Childrens Hospital, Liverpool.

They will be pedalling with Jasmin May Heap’s angel spirit alongside them.

Acorns Hospice supported Jasmin and her family throughout her life with respite, emergency and tragically her end of life care. Alder Hey hospital cared for Toms daughter Erin during her early years when she was unwell – Erin has recovered thanks to their wonderful care.

When

Pedaling: 4th May, 2012
Giving: online, anytime at JustGiving/TeamJazzy

To give online, register with an account if you are not already registered. Then search for the charities Acorns Hospice and Alder Hey Hospital.

Where

For Team Jazzy: from Lands End to John O’Groats in England
For you: online at JustGiving.com

Inclusion criteria available for MPS 3B Natural History Study

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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 →

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New report says more Hunter syndrome therapies needed

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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 →

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Urgent grassroots lobbying effort needed–from Everylife

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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 →

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Sanfilippo charities join together to fund basic research

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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 →