Mucopolysaccharidosis News and Research

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Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. Glycosaminoglycans (formerly called mucopolysaccharides) are also found in the fluid that lubricates our joints.

European scientists set up new therapeutic approaches to tackle gene defects

On 15th April is the 1st International Pompe Disease Day, a campaign to raise awareness of this rare but severe gene defect. Pompe Disease is only one of more than 40 metabolic disorders that mainly affect children under the age of 10, often with devastating consequences.

15 Apr 2014

Medical researchers discover structure of potential drug target for rare genetic disease

Medical researchers at the University of Alberta have discovered the structure of a potential drug target for a rare genetic disease, paving the way for an alternative treatment for the condition.

15 Nov 2013

Researchers to use state-of-the-art brain imaging to study mucopolysaccharidosis

A team of researchers will use state-of-the-art brain imaging to unlock the secrets of a genetic disease, mucopolysaccharidosis, in a landmark study the team hope will lead to new treatments for this devastating disease.

27 Sep 2013

FDA grants orphan drug designation to ARMAGEN's AGT-182 for treatment of Hunter syndrome

ARMAGEN announced today that the U.S. Food and Drug Administration has granted orphan drug designation to its lead product AGT-182 for the treatment of mucopolysaccharidosis type II (also known as Hunter syndrome or MPS II).

19 Jul 2013

Gene therapy developed by UAB cures pediatric Sanfilippo Syndrome A in animal models

A single session of a gene therapy developed by the Universitat Autònoma de Barcelona (UAB) cures Sanfilippo Syndrome A in animal models. This syndrome is a neurodegenerative disease that affects between 1 and 9 out of every 100,000 children, and causes the death of the child on reaching adolescence.

3 Jul 2013

Synageva BioPharma presents data on cholesteryl ester storage disease at NLA annual meeting

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare diseases, announced three poster presentations at the National Lipid Association annual meeting held in Las Vegas, Nevada, May 30- June 2, 2013, as well as a Synageva-sponsored satellite symposium held on Friday, May 31, 2013.

1 Jun 2013

FDA designates Synageva's sebelipase alfa as Breakthrough Therapy for early onset LAL Deficiency

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare diseases, today announced that the U.S. Food and Drug Administration granted Breakthrough Therapy designation to sebelipase alfa for the treatment of early onset lysosomal acid lipase deficiency, also known as Wolman disease.

20 May 2013

Renaissance in drug development for rare diseases

Once famously described as "orphan diseases, too small to be noticed, too small to be funded" in the Hollywood drama Lorenzo's Oil, rare diseases are getting unprecedented attention today among drug manufacturers, who are ramping up research efforts and marketing new medicines that promise fuller lives for children and other patients with these heartbreaking conditions.

14 May 2013

Synageva BioPharma reports study results of sebelipase alfa in adults with late onset LAL Deficiency

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare diseases, today reported 12-month results from an ongoing extension study with sebelipase alfa in adults with late onset Lysosomal Acid Lipase Deficiency.

9 May 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

ArmaGen closes $17M Series A financing

ArmaGen Technologies, Inc. today announced the closing of a $17 million Series A financing to support the development of brain-penetrating recombinant protein therapeutics.

29 Nov 2012

Greenhouse-grown corn seeds could help treat lysosomal storage disease

The seeds of greenhouse-grown corn could hold the key to treating a rare, life-threatening childhood genetic disease, according to researchers from Simon Fraser University.

24 Sep 2012

Researchers discover genetic cause of type VII mucopolysaccharidosis in Brazilian Terriers

The genetics research group led by Professor Hannes Lohi, based at the University of Helsinki and the Folkh-lsan Research Center, has, in collaboration with Adjunct Professor Kirsi Sainio's research group, discovered the cause of a life-threatening skeletal disorder affecting Brazilian Terriers. The disease is caused by a mutation in the GUSB gene.

7 Aug 2012

CHOC Children's research project receives $5.5M CIRM grant

A CHOC Children's research project, under the direction of Philip H. Schwartz, Ph.D., senior scientist at the CHOC Children's Research Institute and managing director of the facility's National Human Neural Stem Cell Resource, has been awarded a $5.5 million grant from the California Institute for Regenerative Medicine.

30 May 2012

EMA grants orphan designations to Ultragenyx UX001, UX003 for treatment of HIBM and MPS 7

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.

29 Mar 2012

FDA grants orphan drug designation to Ultragenyx UX003 for treatment of MPS 7

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the FDA Office of Orphan Products Development has granted orphan drug designation for UX003 for the treatment of MPS 7.

28 Feb 2012

Mucopolysaccharidosis News and Research

Further Reading

European scientists set up new therapeutic approaches to tackle gene defects

Medical researchers discover structure of potential drug target for rare genetic disease

Researchers to use state-of-the-art brain imaging to study mucopolysaccharidosis

FDA grants orphan drug designation to ARMAGEN's AGT-182 for treatment of Hunter syndrome

Gene therapy developed by UAB cures pediatric Sanfilippo Syndrome A in animal models

Synageva BioPharma presents data on cholesteryl ester storage disease at NLA annual meeting

FDA designates Synageva's sebelipase alfa as Breakthrough Therapy for early onset LAL Deficiency

Renaissance in drug development for rare diseases

Synageva BioPharma reports study results of sebelipase alfa in adults with late onset LAL Deficiency

Researchers to develop new diagnostic tools and treatments for people with rare diseases

ArmaGen closes $17M Series A financing

Greenhouse-grown corn seeds could help treat lysosomal storage disease

Researchers discover genetic cause of type VII mucopolysaccharidosis in Brazilian Terriers

CHOC Children's research project receives $5.5M CIRM grant

EMA grants orphan designations to Ultragenyx UX001, UX003 for treatment of HIBM and MPS 7

FDA grants orphan drug designation to Ultragenyx UX003 for treatment of MPS 7

GSK, Angiochem to develop and commercialize LSD treatments

BioMarin to initiate BMN-111 Phase 1 trial in achondroplasia

EMA CHMP recommends approval for BioMarin's Novato manufacturing facility expansion

BioMarin commences GALNS Phase 2 study in mucopolysaccharidosis IVA

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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