Rare Disease News and Research

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Global Genes Project launches new campaign to create awareness about rare diseases

The Global Genes Project, a non-profit advocacy organization that aims to raise awareness about the prevalence of rare diseases worldwide, today launched the 7,000 Bracelets for Hope campaign. The 7,000 Bracelets for Hope campaign is designed to draw attention to an estimated 7,000 different chronic, life-threatening and fatal rare diseases and disorders affecting approximately 30 million Americans and millions more globally.

1 Nov 2010

GSK and Amicus announce Amigal development and commercialization agreement

GlaxoSmithKline PLC (GSK) and Amicus Therapeutics today announced a definitive agreement to develop and commercialize Amigal™ (migalastat HCl), currently in Phase 3 for the treatment of Fabry disease, a rare inherited disorder. Under the terms of the agreement, GSK will receive an exclusive worldwide license to develop, manufacture and commercialize migalastat HCl.

29 Oct 2010

1000 Genomes Project publishes comprehensive map of genetic variations in Nature journal

Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. Today in the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic variation of any person on Earth.

28 Oct 2010

Strativa enters amended agreement with Sobi for Nascobal Vitamin B12 Nasal Spray

Strativa Pharmaceuticals today announced that it has entered into an amended and restated license and supply agreement with Swedish Orphan Biovitrum (Sobi) covering the European development and commercialization rights of Strativa's Nascobal (cyanocobalamin) Vitamin B12 Nasal Spray. Strativa acquired the worldwide rights to Nascobal from QOL Medical, LLC in March 2009, which included a pre-existing agreement with Sobi.

26 Oct 2010

Alexion announces results of eculizumab two open-label Phase 2 studies for aHUS treatment

Alexion Pharmaceuticals, Inc. today announced that its two open-label Phase 2 studies investigating eculizumab (Soliris) as a treatment for patients with atypical Hemolytic Uremic Syndrome (aHUS) have met the primary and key secondary endpoints with high clinical and statistical significance, in interim analyses.

21 Oct 2010

FDG positron emission tomography allows early diagnosis of gall bladder cancer

Researchers at the University of Granada and the Department of Nuclear Medicine, Hospital Virgen de las Nieves at Granada found that the metabolic imaging diagnosis technique based on the analysis of a structural analog of glucose labeled with a positron-emitting compound (18F) allows early diagnosis of gall bladder cancer, a relatively rare disease with high mortality rates among most patients suffering from it.

15 Oct 2010

Workshop to focus on FDA process that grants orphan drug designation

The U.S. Food and Drug Administration has scheduled the third in a series of workshops on orphan drug designation for academics, biotechnology companies, and those unfamiliar with the process for Nov. 4-5, 2010, in Lansdowne, Va.

14 Oct 2010

Prosensa receives £7.5M milestone payment in GSK2402968 Phase IIa trial for DMD

Prosensa, the Dutch biopharmaceutical company focusing on RNA modulating therapeutics, has announced that it received a £7.5m milestone payment from GlaxoSmithKline (GSK) as a result of achieving a data milestone in its Phase IIa open label extension trial of GSK2402968 (PRO051), being developed to treat Duchenne Muscular Dystrophy (DMD) under its agreement with GSK. The milestone payment was based upon achievement of a successful safety review, with no serious safety signals observed.

13 Oct 2010

HSV1716 clinical trial for childhood cancer receives FDA grant

A clinical trial testing a genetically reprogrammed herpes simplex virus as treatment for deadly forms of childhood cancer has received a U.S. Food and Drug Administration grant to support the research.

13 Oct 2010

Loyola treats rare lung disease LAM in women

Lentz was diagnosed with a rare lung disease known as lymphangioleiomyomatosis (LAM).

12 Oct 2010

Survey shows obstetricians, gynecologists unfamiliar with Chagas' disease

According to recent survey results published in the October issue of The American Journal of Tropical Medicine and Hygiene, obstetricians and gynecologists in the United States are unfamiliar with Chagas' disease, a condition that affects an estimated 300,000 people in the United States and can cause serious cardiovascular and digestive complications.

8 Oct 2010

Knome announces winners of KnomeDISCOVERY Awards

Knome, Inc. today announced the winners of its inaugural KnomeDISCOVERY Awards, a program designed to spur new genetic insights into health.

6 Oct 2010

NIH to award $64M under Transformative Research Projects program

The National Institutes of Health will award up to $64 million over five years to encourage exploration of exceptionally innovative and original research ideas that have the potential for extraordinary impact.

4 Oct 2010

Sanofi-aventis commences tender offer for Genzyme acquisition

Sanofi-aventis announced today it has commenced a tender offer for all outstanding shares of common stock of Genzyme Corporation for $69 per share, net to the seller in cash, without interest and less any required withholding taxes. The transaction is valued at approximately $18.5 billion.

4 Oct 2010

Dyax, CMIC enter agreement to develop and commercialize DX-88 for HAE treatment

Dyax Corp. and CMIC Co., Ltd, announced today an agreement to develop and commercialize subcutaneous DX-88 (ecallantide) for the treatment of hereditary angioedema (HAE) and other angioedema indications in Japan.

30 Sep 2010

SCT transplantation benefits in Hodgkin's lymphoma is unclear

It remains an unresolved question whether adult patients with Hodgkin's lymphoma, a certain type of lymph node cancer, benefit from allogeneic stem cell transplantation (SCT) with an unrelated donor. This is due to the fact that studies are lacking that compare this therapy with autologous transplantation or conventional chemotherapy without SCT.

30 Sep 2010

Health law includes help for young women with breast cancer

Kaiser Health News: "A little-noticed section in the health-care overhaul aims to raise awareness among young women and their doctors about the risk of breast cancer between the ages of 15 and 44. The law directs the Centers for Disease Control and Prevention to create education campaigns that will focus on breast cancer and young women, and encourage healthful habits that promote prevention and early detection of the disease.

29 Sep 2010

Legislation to help speed research for cystic fibrosis and other rare diseases

Today the U.S. House of Representatives passed the "Improving Access to Clinical Trials Act" (I-ACT), in a victory for the Cystic Fibrosis Foundation, its advocates and 120 other health advocacy organizations.

24 Sep 2010

FDA grants clearance for HPβCD treatment for Niemann Pick Type C disease

Children's Hospital & Research Center Oakland announced today that the US Food and Drug Administration (FDA) has granted clearance of an Investigational New Drug (IND) application to introduce Trappsol Cyclo (Hydroxypropyl Beta Cyclodextrin or HPβCD) into the brains of six year old identical twin girls dying of a rare brain-destroying cholesterol disease called Niemann Pick Type C (NPC).

24 Sep 2010

Elsevier's new online surgical journal publishes case reports

Elsevier, the world-leading publisher of scientific, technical and medical information products and services together with Surgical Associates Ltd the Owner of the International Journal of Surgery, announced today the launch of the International Journal of Surgery Case Reports (IJSCR) a new author-pays online general surgical journal dedicated to publishing case reports only.

23 Sep 2010