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New measurement tool for clinical trials to help children with Charcot-Marie-Tooth disease

An international study led by the University of Sydney and published in the Annals of Neurology has the potential to improve the design of clinical trials for the treatment of Charcot-Marie-Tooth disease, a disorder which affects the peripheral nervous system.

8 May 2012

Ultragenyx reports results from UX001 Phase 1 study on HIBM

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced results from a first-in-human, multi-center, Phase 1 study of UX001 in patients with hereditary inclusion body myopathy (HIBM) showing that UX001 was well-tolerated with an expected extended release profile on absorption after oral administration

2 May 2012

FDA approves Protalix, Pfizer’s ELELYSO for treatment of type 1 Gaucher disease

Pfizer Inc. and Protalix BioTherapeutics, Inc. announced today that the United States (U.S.) Food and Drug Administration (FDA) approved ELELYSO (taliglucerase alfa) for injection, an enzyme replacement therapy (ERT) for the long-term treatment of adults with a confirmed diagnosis of type 1 Gaucher disease.

2 May 2012

Pfizer receives FDA approval for Elelyso to treat Type 1 Gaucher disease

The U.S. Food and Drug Administration today approved Elelyso (taliglucerase alfa) for long-term enzyme replacement therapy to treat a form of Gaucher disease, a rare genetic disorder.

2 May 2012

FDA approves Levaquin for plague

The U.S. Food and Drug Administration today approved Levaquin (levofloxacin) to treat patients with plague, a rare and potentially deadly bacterial infection. The agency also approved the drug to reduce the risk of getting plague after exposure to Yersinia pestis, the bacterium that causes the disease.

30 Apr 2012

Novartis receives FDA approval for Afinitor to treat renal angiomyolipomas caused by TSC

The U.S. Food and Drug Administration approved Afinitor (everolimus), the first drug approved specifically to treat non-cancerous kidney tumors (renal angiomyolipomas) not requiring immediate surgery in patients with tuberous sclerosis complex.

27 Apr 2012

Positive results from Repligen's RG3039 Phase 1 study for spinal muscular atrophy

Repligen Corporation today announced positive results from a Phase 1 study to evaluate the pharmacokinetic (PK) and safety profile of RG3039, a novel small molecule drug candidate for the potential treatment of spinal muscular atrophy (SMA).

25 Apr 2012

SK Biopharmaceuticals receives FDA Orphan Drug status for carisbamate

SK Biopharmaceuticals, a South Korean pharmaceutical company, announced today that it was granted special status by the U.S. Food and Drug Administration (FDA) for carisbamate for the management of patients with infantile spasms (IS), a form of epilepsy associated with increased risk of death or mental retardation.

20 Apr 2012

Inform Genomics completes first phase in oral mucositis risk prediction study

Inform Genomics, Inc., a private company focused on developing novel platforms of personalized medicine products for cancer supportive care and inflammatory diseases, today announced the completion of the first phase of product development to predict a patient's risk of developing oral mucositis after receiving high dose chemotherapy prior to hematopoietic stem cell transplant.

19 Apr 2012

Myomatrix 2012 conference to take place from April 22-24

The nation's leading scientists and clinicians exploring treatment breakthroughs for congenital muscular dystrophy will convene April 22-24 on the campus of the University of Nevada, Reno, where research by Dean Burkin has led to a potential therapy.

19 Apr 2012

Researchers identify new gene variants linked with common childhood obesity

Genetics researchers have identified at least two new gene variants that increase the risk of common childhood obesity.

9 Apr 2012

Positive effect of tafamidis on neurological degeneration

Tafamidis meglumine was approved in November 2011 for the treatment of transthyretin amyloidosis in adults. This rare disorder is caused by a defective gene and is associated with progressive nerve damage (neurological degeneration) that tafamidis is supposed to delay.

6 Apr 2012

Study provides new information on why A-T disease attacks the brain

Rutgers scientists think they have found a way to prevent and possibly reverse the most debilitating symptoms of a rare, progressive childhood degenerative disease that leaves children with slurred speech, unable to walk, and in a wheelchair before they reach adolescence.

2 Apr 2012

Latest updates in clinical practice decision-making in cancer care presented at NCCN 17th conference

The National Comprehensive Cancer Network (NCCN) held the NCCN 17th Annual Conference: Clinical Practice Guidelines & Quality Cancer Care, March 14 - 18 at The Westin Diplomat in Hollywood, Florida. The latest updates in clinical practice decision-making in cancer care were presented, including, but not limited to, the new NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Lung Cancer Screening and updates to the NCCN Guidelines for Melanoma and Non-Hodgkin's Lymphomas.

29 Mar 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

Althea provides Allena exclusive worldwide rights to broad hyperoxaluria portfolio

Allena Pharmaceuticals, Inc., and Althea Technologies today announced a licensing agreement under which Allena has obtained the exclusive worldwide rights to Althea's broad hyperoxaluria portfolio including product patents, regulatory information and development data related to oxalate degrading enzymes.

29 Mar 2012

Sientra receives FDA approval for new silicone gel-filled breast implant

Today, the U.S. Food and Drug Administration approved a silicone gel-filled breast implant manufactured by Sientra Inc. to increase breast size (augmentation) in women at least 22 years old and to rebuild breast tissue (reconstruction) in women of any age.

27 Mar 2012

FDA Advisory Committee to review Repligen's SecreFlo NDA on May 31

Repligen Corporation today announced that the U.S. Food and Drug Administration's Gastrointestinal Drugs Advisory Committee will meet on May 31, 2012 to discuss the Company's New Drug Application (NDA) for SecreFlo for the improved detection of pancreatic duct abnormalities in combination with magnetic resonance imaging (MRI) in patients with pancreatitis.

26 Mar 2012

New method to easily identify cause of rare diseases

Sanford Health Children's Research Center researcher, Kyle Roux, PhD, has revealed a new method of research that will allow the cause of disease—particularly rare diseases—to become more easily identified.

23 Mar 2012

Study identifies function of GlialCAM gene in brain edema

A study of the pathophysiology of this rare disease has uncovered one mechanism that destabilizes the homeostatic balance of brain cells causing edema.

20 Mar 2012