Category Archives: Genetic Therapy

NOVATO, Calif., March 28, 2012 /PRNewswire/ --Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the European Medicines Agency (EMA) has granted orphan drug designations for sialic acid for the treatment of hereditary inclusion body myopathy (HIBM) and recombinant human beta-glucuronidase for the treatment of mucopolysaccharidosis type 7 (MPS 7). Orphan designation in the European Union provides several benefits including 10 years of market exclusivity post-authorization, fee reductions, scientific assistance for marketing authorization and access to community marketing authorization.

UX001 is an extended release formulation of sialic acid (SA-ER) intended as a substrate replacement therapy for HIBM, a severe, neuromuscular disease caused by sialic acid deficiency. UX003 is a recombinant human beta-glucuronidase intended as an enzyme replacement therapy for the treatment of MPS 7, an extremely rare autosomal recessive lysosomal storage disorder characterized by a deficiency of the lysosomal enzyme beta-glucuronidase.

"Ultragenyx continues to make significant progress in advancing our pipeline of potential treatments for patients affected by ultra-rare diseases," said Emil D. Kakkis, MD, PhD, Chief Executive Officer of Ultragenyx. "I am pleased that our regulatory team was able to obtain orphan designations in both the US and the EU so promptly for both of our lead programs. We will continue to work collaboratively with regulatory authorities as our clinical development programs move forward."

A Phase 2 study for UX001 SA-ER in patients with HIBM is planned to begin enrollment in the second quarter of this year. A Phase 1 study for UX003 is anticipated to begin in the first quarter of 2013. Both UX001 and UX003 have been granted orphan designations by the FDA.

About HIBM

HIBM is also known as GNE myopathy, distal myopathy with rimmed vacuoles (DMRV) and Nonaka disease. HIBM is a severe, adult-onset, progressive, genetic neuromuscular disease caused by a deficiency of an enzyme in the first step of sialic acid biosynthesis needed for the modification of proteins and fats. Patients with HIBM typically begin to have weakness and abnormal walking at 18 to 30 years of age. Over the ensuing 10 to 20 years, many patients progressively lose significant functional ability and become wheelchair-bound. There are no current treatments for this disease.

About MPS 7

Mucopolysaccharidosis type 7 (MPS 7), also known as Sly syndrome, is a rare genetic, metabolic disorder. MPS 7 is caused by the deficiency of beta-glucuronidase, an enzyme required for the breakdown of the glycosaminoglycans (GAGs) dermatan sulfate and heparan sulfate. These complex GAG carbohydrates are a critical component of many tissues. The inability to properly breakdown GAGs leads to a progressive accumulation in many tissues and multi-system disease. There are a wide variety of clinical symptoms including enlarged organs, stiff joints, respiratory disease and cardiac complications. There are no approved therapies for MPS 7 today.

About Ultragenyx

Ultragenyx is a privately held, developmental stage biotechnology company committed to bringing life-enhancing therapeutics for patients with rare and ultra-rare genetic diseases, also known as orphan and ultra-orphan diseases, to market. The company focuses on rare metabolic diseases that affect small numbers of patients, but for which the unmet medical need is high and there are no effective treatments. Ultragenyx intends to build a sustainable pipeline of safe and effective therapies to address these underserved diseases. Ultragenyx' lead program, UX001, is being evaluated as a potential treatment for hereditary inclusion body myopathy (HIBM), also known as GNE myopathy. The UX001 program has been granted orphan drug designation in the US and the EU.

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Ultragenyx Granted Orphan Designations in Europe for Two Lead Product Candidates, UX001 for HIBM and UX003 for MPS 7

Indian Express

Hazare wants FIRs against 14 Cabinet ministers by August Indian Express Raking up a new issue, Anna Hazare today demanded that FIRs be registered against 14 'corrupt' Cabinet ministers of the UPA by August failing which a 'jail bharo' agitation will be launched even as he pushed back the deadline for a strong Lokpal law to ... Hazare revives Lokpal agitation, attacks govtThe Hindu Team Anna eyes Delhi assembly pollsEconomic Times Bring Lokpal Bill or go, Anna Hazare tells governmentNDTV Hindustan Times -IBNLive.com -Zee News all 289 news articles »

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India Today

Freed Italian says they were victims of Maoists-govt tussle IBNLive.com PTI | 08:03 PM,Mar 25,2012 Bhubaneswar, Mar 25 (PTI) Italian tourist Claudio Colangelo, who was released today after being in Maoist captivity for 11 days, said he became victim of an ongoing tussle between the ultras and the government. Odisha government ready to resume negotiation with Maoists: Naveen PatnaikEconomic Times Maoists release one of the two Italians, CM urges mediators to resume talksHindustan Times One Italian hostage released by Indian MaoistsAFP Newstrack India -The Hindu all 844 news articles »

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Daily News & Analysis

John Wright told me I could get hundred 100s: Tendulkar Daily News & Analysis Place: Mumbai | Agency: PTI Senior batsman Sachin Tendulkar on Sunday revealed that it was India's former coach John Wright, who had first inspired him to score 100 international centuries. "I remember a long time ago, in the 2003 World Cup (in South ... Don't want to compare between 800 wickets and 100 tons: Sachin TendulkarTimes of India Tendulkar does not rule out playing in 2015 World CupReuters India I don`t need to prove anyone wrong: TendulkarZee News Indian Express -Rediff -Cricket Country all 275 news articles »

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NORTH RIDGEVILLE, Ohio - Echo spent most of his life chained up with a collar cutting tightly into his neck. He also has genetic problems that eventually caused him to go blind.

"We take on dogs with special needs. We thought Echo would make a good therapy dog," said Charles Stella, of Elite K-911 training center.

He was given the name Echo because of his use of echo location. When hemakes a sound, it bounces off of solid objects. Echo can than better judge what is around him.

"Within six months I would like to have him certified and going into schools and hospitals. I'd like to have him working with blind children and teach them that life still goes on - even without sight," said Stella

Numerous pit bulls have had training as therapy dogs through Elite K-911. The dogs, along with their handlers, routinely visit local schools and patients at University Hospital in Cleveland. Once Echo's training has been completed, he will join them.

"The hope is that the kids will create a bond with the dogs. They'll go home and tell their parents and friends that they met an awesome pit bull. I spent time with her. I played with her," said Chris Hughes of the Thera-Pits program.

You can follow Echo's progress as he trains to become a therapy dog at thera-pits.com

For more information you can also contact the Elite K-911 Training Center . They also have some pit bull puppies up for adoption.

Copyright 2012 Scripps Media, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.

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Abused, blind pit bull to be therapy dog

Marker identifies tumors unable to repair DNA damage by platinum agents

Newswise BOSTONScientists from Brigham and Women's Hospital and Dana-Farber Cancer Institute and their colleagues have found a genetic marker that predicts which aggressive "triple negative" breast cancers and certain ovarian cancers will likely respond to platinum-based chemotherapies.

The marker, found on chromosomes within the cancer cells, could lead to a test for identifying patients whose cancers could be effectively treated by a single platinum-based drug, "and avoid the toxicities of other chemotherapy combinations," says Andrea Richardson, MD, PhD, co senior author of the study and a surgical pathologist at Brigham and Women's and Dana-Farber.

The report is being published in the April issue of Cancer Discovery, a journal of the American Association for Cancer Research.

Many cancer treatments work by damaging DNA within tumor cells, rendering the cells unable to grow and divide. While some cancer cells can readily repair broken DNA molecules, allowing them to survive drug or radiation therapy, others have lost this repair capacity, making them vulnerable to DNA-damaging agents.

The new marker, Richardson says, flags breast and ovarian cancer cells that can't repair the type of DNA damage caused by treatment with platinum drugs, including cisplatin and carboplatin. A clinical test for the marker could be particularly valuable in treating triple-negative breast cancers, which are resistant to anti-hormonal therapies or targeted drugs like Herceptin.

"We currently do not have any targeted therapies for patients with triple-negative breast cancer, so if these laboratory findings are confirmed and an assay is created to predict sensitivity to drugs that target defective DNA repair, it would be a major step forward," says Richardson, the primary pathologist for the study. However, she adds, such an assay isn't likely to be developed soon.

The new genetic marker was discovered when Richardson and others studied tumor tissue collected from triple negative breast cancer patients who participated in two clinical trials of platinum drug therapy. Triple-negative tumors develop in about 80 percent of women who carry mutated breast cancer genes BRCA1 and BRCA2. These tumors are characterized by a lack of estrogen, progesterone, and HER2 receptors, which makes them unresponsive to targeted treatments that block those receptors.

The two clinical trials, led by Judy Garber, MD, MPH, of Dana-Farber, were investigating whether platinum drugs would also be effective in so-called "sporadic" triple negative tumors -- those that develop in the absence of BRCA1 and BRCA2 genetic mutations. Overall, about 20 percent of breast cancers are triple negative. Some of these cancers respond to standard chemotherapy drugs, while others don't. The patients whose triple negative tumors do not go away after chemotherapy have a particularly poor prognosis.

A total of 79 patients in the two trials received cisplatin alone or in combination with bevacizumab (Avastin) to shrink their tumors prior to removing them surgically. In both trials, approximately 40 percent of patients had a complete or near-complete disappearance of the cancer after the cisplatin therapy.

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DNA Marker Predicts Platinum Drug Response in Breast, Ovarian Cancer