Lysosomal Storage Disorders News and Research

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URMC researchers identify potential new means of treating severe genetic diseases in children

University of Rochester Medical Center researchers believe they have identified a potential new means of treating some of the most severe genetic diseases of childhood, according to a study in PLOS Biology.

16 Dec 2016

Novel drug delivery system may offer new hope for patients with rare fatal genetic disorder

Researchers at Oregon State University and other institutions have discovered a type of drug delivery system that may offer new hope for patients with a rare, ultimately fatal genetic disorder - and make what might become a terrible choice a little easier.

30 Aug 2016

Newborn screen for Niemann-Pick disease type C ready for piloting

Researchers have developed a bile acid-based test that they believe could help screen for Niemann-Pick disease type C in newborns.

6 May 2016

CHOP researchers delay symptoms, extend lifespan in animal model of Batten disease

Researchers have taken a significant step forward in developing gene therapy against a fatal neurodegenerative disease that strikes children. By delivering a working version of a gene to produce a key enzyme that is lacking in Batten disease, the scientists delayed symptoms and extended lifespan in dogs with a comparable disease.

12 Nov 2015

Sangamo BioSciences to present data on ZFP Therapeutic platform at ASGCT meeting

Sangamo BioSciences, Inc. announced that data from clinical, preclinical and research-stage programs focused on the development of ZFP Therapeutics will be presented at the 18th Annual Meeting of the American Society of Gene and Cell Therapy

29 Apr 2015

State highlights: Calif.'s Prop. 45 fight; new benefits for same sex couples in N.C.; Aetna sheds jobs after Medicaid drop

A selection of health policy stories from California, North Carolina, Delaware, New York, Georgia, Pennsylvania, New Jersey, Florida and Kansas.

17 Oct 2014

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

Expert in gene therapy joins The Children's Hospital of Philadelphia

Beverly L. Davidson, Ph.D., a nationally prominent expert in gene therapy, is joining The Children's Hospital of Philadelphia (CHOP) today.

2 Apr 2014

Levels of certain fats in cerebral spinal fluid can predict patients with HIV, say scientists

Johns Hopkins scientists have found that levels of certain fats found in cerebral spinal fluid can predict which patients with HIV are more likely to become intellectually impaired.

12 Sep 2013

Genzyme marks 2013 International Rare Disease Day

Genzyme, a Sanofi company, today announced its support of International Rare Disease Day with a series of initiatives meant to call attention to rare diseases as an important public health issue and to improve rare disease education, research, and treatment.

28 Feb 2013

Researchers discover key interaction at heart of promising new treatment for Fabry disease

A research team led by biochemist Scott Garman at the University of Massachusetts Amherst has discovered a key interaction at the heart of a promising new treatment for a rare childhood metabolic disorder known as Fabry disease.

23 Dec 2011

Elan, Proteostasis create innovative drug discovery initiative for neurodegenerative disorders

Proteostasis Therapeutics and Elan Corporation today announced a strategic business relationship to advance Proteostasis' platform for the discovery and development of disease-modifying, small molecule drugs and diagnostics for the treatment of neurodegenerative disorders such as Parkinson's, Huntington's, multiple sclerosis and amyotrophic lateral sclerosis, and a broad array of dementia-related diseases including Alzheimer's.

25 May 2011

Zacharon, Pfizer enter research collaboration to develop drugs for orphan diseases

Zacharon Pharmaceuticals, Inc. today announced that the company has entered into a strategic research collaboration with Pfizer Inc. to develop drugs for orphan diseases, including lysosomal storage disorders. The potential value of the collaboration to Zacharon is approximately USD $210 million. The collaboration includes the potential development of compounds that may be discovered using Zacharon's innovative platform for developing small molecule drugs targeting specific carbohydrate polymers or glycans.

7 Apr 2011

Synageva BioPharma closes $25 million private equity financing

Synageva BioPharma Corp., a privately held biopharmaceutical company developing therapeutic products for rare disorders, announced today the closing of a $25 million private equity financing.

21 Mar 2011

Genzyme introduces new global grant program to support LSD patient community

Genzyme Corporation today recognized International Rare Disease Day with the launch of a new program, the Genzyme Patient Advocacy Leadership Awards.

28 Feb 2011

Synageva supports Fourth International Rare Disease Day

Synageva BioPharma Corp., a privately held biopharmaceutical company that is developing therapeutic products for rare disorders, announced today that the company is supporting the Fourth International Rare Disease Day observance on February 28, 2011.

28 Feb 2011

Genzyme reports 3-year follow-up data from eliglustat tartrate Phase 2 trial for Gaucher disease

Genzyme Corporation today announced three-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 bone disease, at the three-year timepoint.

19 Feb 2011

Health Canada approves VPRIV enzyme replacement therapy for type 1 Gaucher disease

Shire plc, the global specialty biopharmaceutical company, announces that Health Canada has approved VPRIV (velaglucerase alfa), an enzyme replacement therapy (ERT) for long-term use in pediatric and adult type 1 Gaucher disease.

1 Dec 2010

New simple blood test may help diagnose Niemann-Pick type C disease

A fatal genetic disorder that frequently takes years to diagnose may soon be detectable with a simple blood test, researchers at Washington University School of Medicine in St. Louis and the National Institutes of Health (NIH) report this week in Simple blood test may diagnose deadly Niemann-Pick type C disease.

4 Nov 2010

Neuraltus achieves last patient out for NP001, NP002 studies

Neuraltus Pharmaceuticals, a privately held biopharmaceutical company dedicated to developing and commercializing high-impact therapeutics that address critical unmet needs, primarily in the treatment of neurodegenerative diseases, announced today the Company has achieved last patient out in two studies: a Phase 1 clinical study of NP001 in patients with Amyotrophic Lateral Sclerosis (ALS, or Lou Gehrig's disease) and a Phase 1/2 clinical study of NP002 in patients with L-dopa-induced dyskinesias (muscle movement disorders).

5 Oct 2010