Rare Disease News and Research

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Ultragenyx completes UX001 Phase 1 study on hereditary inclusion body myopathy

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the Phase 1 study of UX001 for hereditary inclusion body myopathy (HIBM) has been completed.

9 Mar 2012

Avedro submits VibeX/KXL System NDA with FDA to treat keratoconus, corneal ectasia

Avedro, Inc. announced today that the Company submitted a New Drug Application (NDA) to the United States Food and Drug Administration (FDA) for its VibeX (riboflavin ophthalmic solution) /KXL System for the treatment of keratoconus and corneal ectasia following refractive surgery.

9 Mar 2012

Repligen seeks EMA marketing approval for SecreFlo for pancreatic imaging

Repligen Corporation announced today that it has submitted a marketing authorization application (MAA) to the European Medicines Agency (EMA) for SecreFlo to improve detection of pancreatic duct abnormalities in patients with pancreatitis.

5 Mar 2012

WUSTL scientists to decode DNA of 99 patients with rare diseases

Rare genetic diseases, long overlooked because they affect relatively few people, are getting new attention. Scientists at Washington University School of Medicine in St. Louis are reaching out to patient advocacy groups and offering to decode the DNA of 99 patients with rare diseases to help find the genetic alterations responsible for their illnesses.

3 Mar 2012

CSL Behring to receive 2012 EURORDIS Award for pioneering work

CSL Behring is the recipient of a 2012 EURORDIS Award for its pioneering work in developing and manufacturing therapies used to treat rare and serious medical conditions.

2 Mar 2012

Shire, arGEN-X partner to create novel antibodies against rare diseases

arGEN-X, a biopharmaceutical company focused on the discovery and development of human monoclonal antibodies from its proprietary SIMPLE Antibody platform, announces today that it has entered into an alliance with Shire to create novel therapeutic antibody products against multiple targets submitted by Shire.

29 Feb 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

GSK, Angiochem to develop and commercialize LSD treatments

Angiochem announced today a global collaboration with GlaxoSmithKline (GSK) to discover, develop and commercialize treatments for lysosomal storage diseases.

27 Feb 2012

Montefiore director to host Twitter chat about neuroendocrine tumors on Feb. 29

On February 29, which is Rare Disease Day, Steven Libutti, MD, Vice Chairman of Surgery and Director of the Montefiore Einstein Center for Cancer Care will host a Twitter chat about the signs and symptoms, diagnosis and treatment of neuroendocrine tumors, or NETs, a rare form of cancer.

27 Feb 2012

FDA grants Priority Review for Repligen's SecreFlo NDA

Repligen Corporation announced today that the U.S. Food and Drug Administration (FDA) has accepted for filing and granted Priority Review to the Company's new drug application (NDA) for SecreFlo for the improved detection of pancreatic duct abnormalities in patients with pancreatitis.

21 Feb 2012

Patient Services to join National Organization for Rare Disorders

Patient Services, Inc. will join the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day on February 29. The purpose is to focus attention on the needs of patients and families affected by rare diseases.

18 Feb 2012

RAD51 gene behind the cause of congenital mirror movements

Further work carried out on mice suggests that this gene plays a part in motor network cross-over. Cross-over is a key factor in the transmission of brain signals, because it allows the right side of the brain to control the left side of the body and vice versa. This research has been published in The American Journal of Human Genetics.

18 Feb 2012

FDA grants orphan drug designation to CSL Behring's rVIIa-FP

CSL Behring announced today that the company has been granted orphan drug designation by the U.S. Food and Drug Administration (FDA) for its novel recombinant fusion protein linking coagulation factor VIIa with albumin.

16 Feb 2012

Oxford Gene Technology develops optimised rare disease sequencing and analysis service

Oxford Gene Technology (OGT), a provider of innovative clinical genetics and diagnostic solutions to advance molecular medicine, has extended its Genefficiency™ Sequencing Service to provide a dedicated service for investigating rare diseases. The specifically optimised version of the service will help investigators and clinicians identify causative mutations quickly, easily and without the need for in-house technical or bioinformatics expertise.

From Oxford Gene Technology 16 Feb 2012

Genzyme announces four-year data from eliglustat tartrate phase 2 trial on Gaucher disease type 1

Genzyme, a Sanofi company, 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.

8 Feb 2012

Ethical framework to guide coverage and reimbursement decisions for expensive orphan drugs

How can insurers justify spending hundreds of thousands of dollars per patient per year on "orphan drugs" - extremely expensive medications for rare conditions that are mostly chronic and life-threatening -- when this money could provide greater overall health benefit if spread out among many other patients?

8 Feb 2012