Rare Disease News and Research

RSS

Alexion second quarter net product sales increase to $274.7 million

Alexion Pharmaceuticals, Inc. today announced financial results for the three and six months ended June 30, 2012.

25 Jul 2012

EMA COMP issues positive opinion to Albireo for A4250

Albireo AB, a biopharmaceutical company specializing in gastroenterology, today announced that the European Medicines Agency Committee for Orphan Medicinal Products (COMP) has issued a positive opinion on an application for orphan medicinal product status for the company's lead hepatology candidate, A4250.

25 Jul 2012

uniQure receives positive recommendation from EMA CHMP for Glybera

uniQure announced today that the European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion that recommends marketing authorization of Glybera (alipogene tiparvovec) as a treatment for lipoprotein lipase deficiency (LPLD) under exceptional circumstances.

21 Jul 2012

Medunik Canada signs exclusive distribution agreement with Orphan Europe

Medunik Canada, is an orphan drug company dedicated to helping Canadians with rare diseases access therapies currently unavailable in Canada. Medunik Canada is proud to announce that it has signed an exclusive distribution agreement with Orphan Europe Recordati Group.

5 Jul 2012

Researchers discover new gene mutations associated with megalencephaly

A research team led by Seattle Children's Research Institute has discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly.

30 Jun 2012

Scientists use patient cells to generate human model of Huntington's

Scientists at the Gladstone Institutes and an international team of researchers have generated a human model of Huntington's disease-directly from the skin cells of patients with the disease.

29 Jun 2012

FDA approves Baxter's GAMMAGARD LIQUID for multifocal motor neuropathy

Baxter International Inc. today announced that the U.S. Food and Drug Administration (FDA) has approved GAMMAGARD LIQUID 10% [Immune Globulin Infusion (Human)] as a treatment for multifocal motor neuropathy (MMN). This is the first immunoglobulin treatment approved for MMN patients in the United States, and it was approved for use with MMN patients in Europe in 2011.

From Baxter International Inc. 25 Jun 2012

Study reveals decline in number of babies born with birth defects across Europe

The number of babies born with birth defects (major congenital anomalies) across Europe has fallen over the decade (2000-2009), University of Ulster research has revealed.

23 Jun 2012

FDA issues CRL to Repligen's RG1068 NDA for treatment of pancreatitis

Repligen Corporation today announced that it has received a Complete Response Letter (CRL) from the U.S. Food & Drug Administration (FDA) regarding the Company's New Drug Application (NDA) for RG1068.

23 Jun 2012

NewYork-Presbyterian/WCMC join new MDS Clinical Research Consortium

NewYork-Presbyterian/Weill Cornell Medical Center is one of six institutions selected to join the newly-founded MDS Clinical Research Consortium.

20 Jun 2012

Next-generation sequencing technologies for the 1,000 Rare Diseases Project

BGI, the world's largest genomics organization, and The Children's Hospital of Philadelphia (CHOP) today announced that they have jointly initiated the 1,000 Rare Diseases Project with the aim of accelerating the discovery of genetic variants underlying rare diseases.

19 Jun 2012

RGS proteins play an essential role in night blindness

In a pair of related studies, scientists from the Florida campus of The Scripps Research Institute have identified several proteins that help regulate cells' response to light-and the development of night blindness, a rare disease that abolishes the ability to see in dim light.

12 Jun 2012

CSL Behring rIX-FP granted Orphan Drug Designation to treat hemophilia B

CSL Behring announced today that the company has been granted Orphan Drug Designation by the United States Food and Drug Administration for its novel recombinant fusion protein linking coagulation factor IX with recombinant albumin (rIX-FP).

8 Jun 2012

Decision Resources forecasts the launch of four new agents to treat DMD by 2021

Decision Resources, one of the world's leading research and advisory firms focusing on pharmaceutical and healthcare issues, finds that interviewed experts unanimously identify a disease-modifying therapy as the highest unmet need in the treatment of Duchenne muscular dystrophy (DMD).

8 Jun 2012

CDI introduces MyCell Services

Cellular Dynamics International, Inc. (CDI), the world's largest commercial producer of human induced pluripotent stem (iPS) cell lines and tissue cells, today announced the launch of its MyCell Services.

7 Jun 2012

Insurers make patients pay hundreds more for cancer, arthritis drugs

Thousands of patients taking costly drugs for ailments such as cancer and rheumatoid arthritis are being asked to shoulder a greater share of the expense. In other news, consumers are demanding access to their medical device data. Others are harnessing the internet to jumpstart medical research and share important experiences, including serious illnesses, with family and friends.

30 May 2012

Scientists identify 20 distinct gene mutations in patients with FGD

A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found.

30 May 2012

Gene therapy restores movement in children bedridden with AADC

Using gene transfer techniques pioneered by University of Florida faculty, Taiwanese doctors have restored some movement in four children bedridden with a rare, life-threatening neurological disease.

17 May 2012

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