In years past the CGRF has released similar “Calls for Research”, however the response in 2010 has far surpassed previous interest. This is a testament to the fact that science is accelerating – more is being learned about these brain diseases in children – and more scientific laboratories have an interest in pursuing avenues that may lead to a cure.

These advances in medical science are compelling, and it gives the CGRF further motivation to continue in our quest to raise funds to support this important research. It is your donations that fund this important research – donations can be made online at www.childrensgaucher.org.  We truly appreciate your continued support.

100% of donations received by the Children’s Gaucher Research Fund go directly to Medical Research.

http://www.genengnews.com/news/bnitem.aspx?name=67331403
 
Nov 3 2009, 11:02 AM EST

Genzyme to Evaluate to-BBB’s Technology for Delivering Biologics to the Brain
GEN News Highlights

to-BBB’s lead in-house project is 2B3-101, a G-Technology formulated doxorubicin, currently in preclinical development.  A Phase I/II trial is expected to start during the second half of 2010. Additional preclinical-stage in-house projects are ongoing in diseases including Alzheimer’s and lysosomal storage diseases.

Question is, now how can we capitalize on this and get the Parkinson’s community to start paying attention to our Gaucher kids?

Gaucher disease linked to Parkinson’s – Los Angeles Times
Mutant Gene Raises Risk of Parkinson’s (WebMD)
Glucocerebrosidase Mutations in Parkinson’s Disease  New England Journal of Medicine (subscription)
Study Conclusively Ties Rare Disease Gene To Parkinson’s – Medical News Today

The need and opportunity for Therapeutics for Rare and Neglected Diseases (TRND) are enormous. Of the 7,000 human diseases, fewer than 300 are of interest to the biopharmaceutical industry, due to limited prevalence and/or commercial potential. More than 6,000 of these diseases are rare (defined by the Orphan Drug Act as <200,000 U.S. prevalence), and the remainder are neglected because they affect impoverished or disenfranchised populations. Researchers have now defined the genetic basis of more than 2,000 rare diseases and identified potential drug targets for many rare and neglected diseases (RND).

TRND received $24 million in the National Institutes of Health (NIH) budget for fiscal year 2009. TRND is a collaborative drug discovery and development program with governance and oversight provided by the Office of Rare Diseases Research (ORDR). Program operations will be within the intramural research program adjacent to the NIH Chemical Genomics Center (NCGC) and will be administered by the National Human Genome Research Institute (NHGRI).

Frequently Asked Questions
TRND (PDF – 30)
Rare Diseases (PDF – 21KB)
Neglected Diseases (PDF – 36KB)

News
TRND Press Release (PDF – 80KB)

I’m going to work to contact this company and see if I can get more details if this applies to GD2 or GD3!

MENLO PARK, CA–(Marketwire – March 26, 2009) – Neuraltus Pharmaceuticals, Inc., a privately held pharmaceutical company developing proprietary small molecule drugs for neurodegenerative diseases, today announced the completion of $17 million in Series A financing.

Co-investing in the Series A funding are Latterell Venture Partners of San Francisco, CA, VantagePoint Venture Partners of San Bruno, CA and Adams Street Partners of Chicago, IL. Dr. James Woody of Latterell, Annette Bianchi of VantagePoint and Terry Gould of Adams Street will join the Neuraltus Board of Directors.

Neuraltus was founded in 2005 by Michael McGrath, MD, PhD, Professor of Laboratory Medicine at the University of California, San Francisco, Edgar Engleman MD, Professor of Medicine and Pathology at Stanford University School of Medicine and Ari Azhir, PhD.

“Neuraltus offers a strong pipeline of compounds for the treatment of serious neurological diseases for which there are few if any clinical options,” said Dr. James Woody of Latterell Venture Partners.

“It is a great vote of confidence when investors with so much experience in biotechnology have chosen to devote their resources to Neuraltus,” said Ari Azhir, CEO and co-founder.

Neuraltus has a number of compounds in the pipeline, including a drug to treat ALS (Amyotropic Lateral Sclerosis, also known as Lou Gehrig’s Disease), a drug that will reduce dyskinesia (jerky involuntary movement) in patients suffering from Parkinson’s Disease, and a drug for the treatment of Gaucher’s Disease (a Lysosomal Storage Disorder). The Series A funding will enable Neuraltus to conduct and complete phase I and phase II clinical trials for each of these disorders.

“We believe Neuraltus has the potential to develop innovative drugs for these intractable diseases,” said Annette Bianchi of VantagePoint.

…

Gaucher’s Disease is the most prevalent Lysosomal Storage Disorder and results from a specific enzyme deficiency in the body, caused by a genetic mutation received from both parents. The disease is progressive, incurable and causes severe disability and death.

Genzyme (NASDAQ:GENZ) said this afternoon that its next-generation, oral drug for Gaucher disease passed a mid-stage clinical trial, providing a degree of assurance that the Cambridge, MA-based biotech powerhouse can sustain its franchise for treating the rare genetic disease.

The study, which included 26 patients, showed the oral drug was safe and effective. And the trial showed that the drug met its main goal in 91 percent of patients who took the drug over a year’s time. The results were presented today at the Lysosomal Disease Network World meeting in San Diego.

The trial represents an important test for the drug, although it will still have to clear another late-stage clinical trial expected to begin in mid-2009 before it can win FDA approval for sale in the U.S. This drug is strategically important to Genzyme. Imiglucerase (Cerezyme), the company’s current treatment for Gaucher, is its top-selling product that raked in $1.24 billion in 2008 sales, or more than a quarter of the firm’s total revenue of $4.6 billion. But two critical patents for the treatment expire in August 2010 and August 2013, according to regulatory filings.

“Given Cerezyme’s unique safety and efficacy profile, we set a high threshold for success, and the results were better than anticipated, indicating a potent, highly-specific and well-tolerated molecule,” said Geoff McDonough, a senior vice president with Genzyme, in a statement.

The oral Gaucher drug, tentatively called Genz-112638, would come with a longer patent life, and is also intended to be a more convenient option for people with Gaucher. About 10,000 patients worldwide have the disorder, and the current imiglucerase treatment is only available through intravenous injection.

The study of Genzymes’s oral Gaucher drug showed that the treatment decreased spleen and liver growth that is common among patients with the disease. The drug also proved effective in raising levels of hemoglobin, a protein that carries oxygen in the blood, and platelet cells, which help form clots, according to Genzyme. The study also showed lower levels of an antibody released in fatty tissues in patients who took the drug.

The company says that the there was a small number of patients who had mild adverse reactions to the drug early in the trial, but those adverse events did not require medical treatment. Of the 26 patients who enrolled in the trial, 22 completed the full year of treatment, and 20 chose to stick with the drug after the study ended, Genzyme says.

Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely limited to tumor cell lines or transformed derivatives of native tissues. Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance; these diseases include adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome. Such disease-specific stem cells offer an unprecedented opportunity to recapitulate both normal and pathologic human tissue formation invitro, thereby enabling disease investigation and drug development.

The original definition of “rare disease or condition” in the Orphan Drug Act was amended in October 1984 by P.L. 98-551 to add a numeric prevalence threshold to the definition:

“…the term rare disease or condition means any disease or condition which (a) affects less than 200,000 persons in the U.S. or (b) affects more than 200,000 persons in the U.S. but for which there is no reasonable expectation that the cost of developing and making available in the U.S. a drug for such disease or condition will be recovered from sales in the U.S. of such drug.”

The Orphan Drug Act (P.L. 97-414, as amended) includes various incentives that have stimulated a considerable amount of interest in the development of orphan drug and biological products. These incentives include tax credits for clinical research undertaken by a sponsor to generate required data for marketing approval, and seven years of marketing exclusivity for a designated drug or biological product approved by the FDA.

The FDA, through OOPD, funds the development of orphan products through its grants program for clinical studies.

• First Patient Enrolled In Open-Label, Switchover Trial Of PrGCD For The Treatment Of Gaucher Disease
• Group Charged With ‘Playing God’ Over Genetic Testing
• Amicus Therapeutics Announces Positive Progress of Three Lead Clinical Programs
• New treatment has Plymouth boy with rare genetic disorder beating the odds
• Protalix BioTherapeutics – Gaucher disease case study” will be the keynote presentation
• Genetic Diseases and Dysmorphic Syndromes Gaucher’s Disease