Rare Disease News and Research

RSS

ALN RNAi therapeutic program represents novel approach for treatment of AAT deficiency

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has presented new pre-clinical data with an RNAi therapeutic targeting alpha-1 antitrypsin (AAT) for the treatment of liver disease associated with AAT deficiency. These data were presented at the 63rd Annual Meeting of the American Association for the Study of Liver Diseases (AASLD, "The Liver Meeting") held November 9-13, 2012 in Boston.

15 Nov 2012

Patient recruitment complete for immatics IMA901 Phase 3 trial for renal cell carcinoma

immatics biotechnologies GmbH, a biopharmaceutical company developing rationally designed therapeutic vaccines that are active against cancer, announced today that it has completed patient recruitment into the pivotal phase 3 trial evaluating its lead cancer vaccine IMA901 for renal cell carcinoma (RCC). The trial has completed patient inclusion and it is expected that around 345 patients will be randomized across 10 countries in the US and Europe.

8 Nov 2012

FDA grants Albireo's A4250 orphan-drug designation for treatment of PFIC and PBC

Albireo AB, a biopharmaceutical company specializing in gastroenterology, today announced that A4250 (an inhibitor of the ileal bile acid transporter, IBAT/ASBT) has been granted orphan-drug designation by the U.S Food and Drug Administration for the treatment of Progressive Familial Intrahepatic Cholestasis (PFIC) and Primary Biliary Cirrhosis (PBC).

8 Nov 2012

New video-protocol details steps to generate human iPSCs from peripheral blood cells

Stem cells are a valuable resource for medical and biological research, but are difficult to study due to ethical and societal barriers. However, genetically manipulated cells from adults may provide a path to study stem cells that avoid any ethical concerns. A new video-protocol in JoVE (Journal of Visualized Experiments), details steps to generate human induced pluripotent stem cells (iPSC) from cells in the peripheral blood.

2 Nov 2012

BioRx added to Zemaira distribution network

BioRx, a national specialty pharmacy and infusion services provider, has been added to the limited distribution network for Zemaira [alpha-1 proteinase inhibitor (human)]. Zemaira is indicated for chronic augmentation and maintenance therapy in individuals with alpha1-antitrypsin (AAT) deficiency and clinical evidence of emphysema.

30 Oct 2012

Pfizer receives FDA approval for Synribo to treat chronic myelogenous leukemia

The U.S. Food and Drug Administration today approved Synribo (omacetaxine mepesuccinate) to treat adults with chronic myelogenous leukemia (CML), a blood and bone marrow disease.

29 Oct 2012

The main culprit in the meningitis outbreak

"The Centers for Disease Control have identified the culprits from a handful of fungal meningitis cases, and most often they've found a fungus called Exserohilum. This is a genus of molds. Its 19 species usually cause leaf diseases of grasses, including crops like corn and millet, and are not a danger to people or animals. But a few Exserohilum species can also infect us, though they do so very rarely.

20 Oct 2012

Financial Times features special report on NTDs

The Financial Times has published a special report on neglected tropical diseases (NTDs) featuring 10 articles examining issues including prevention, research, and treatment.

12 Oct 2012

Heart drug could ease rare muscle disorder

The anti-arrhythmic drug mexiletine may improve symptoms in patients with nondystrophic myotonias, shows a small randomized trial published in JAMA.

11 Oct 2012

Researchers identify two new small 'chaperone' molecules that may treat Schindler/Kanzaki disease

University of Massachusetts Amherst researchers, experts in revealing molecular structure by X-ray crystallography, have identified two new small "chaperone" molecules that may be useful in treating the inherited metabolic disorder known as Schindler/Kanzaki disease.

10 Oct 2012

RMND1 gene mutations responsible for severe neurodegenerative disorders

Scientists at the Montreal Neurological Institute and Hospital - The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.

10 Oct 2012

Translational Genomics Research Institute creates new center for rare childhood disorders

The Translational Genomics Research Institute (TGen) today announced the creation of a new center that could have life changing effects on the lives of potentially thousands of children and their families.

6 Oct 2012

Longer looks: The time is now for community health workers; Patients sharing in medical decisions; One doctor's plea for help

By the time Frederick Pegues Jr. was resting in bed at Temple University Hospital, the irony struck him hard. Here, he had just finished a month-long course in being a community health worker, sponsored by Temple University Hospital. He had learned how to help patients navigate a complicated health system. Yet he himself had not been able to get the help he needed.

5 Oct 2012

Mexiletine improves patient-reported stiffness in nondystrophic myotonia

An older medication originally approved to treat heart problems eases the symptoms of a very rare muscle disease that often leaves its sufferers stiff and in a good deal of pain, physicians and researchers report in the Oct. 3 issue of the Journal of the American Medical Association.

4 Oct 2012

New nanodevice lays foundations for future development of novel therapies against aging

A team of Spanish scientists has developed an intelligent nanodevice that lays the foundations for the future development of new therapies against aging. The device consists of nanoparticles that can selectively release drugs in aged human cells.

4 Oct 2012

Mexiletine use improves stiffness in patients with nondystrophic myotonias

Preliminary research finds that for patients with nondystrophic myotonias (NDMs), rare diseases that affect the skeletal muscle and cause functionally limiting stiffness and pain, use of the anti-arrhythmic medication mexiletine resulted in improvement in patient-reported stiffness, according to a preliminary study in the October 3 issue of JAMA.

3 Oct 2012

Alpha-glucosidases can be turned on and off, finds study

A study co-led by Simon Fraser University and Purdue University has found that the intestinal enzymes responsible for processing starchy foods can be turned on and off, helping to better control those processes in people with Type 2 diabetes.

28 Sep 2012

Enrollment complete in Boehringer Ingelheim’s nintedanib phase III studies for IPF

Boehringer Ingelheim Pharmaceuticals, Inc. announced that clinical trial enrollment has completed for two phase III studies evaluating the safety and efficacy of nintedanib (BIBF 1120), an investigational compound, in patients with idiopathic pulmonary fibrosis (IPF), being studied at a twice-daily oral dose.

27 Sep 2012

Positive results from Sobi, Biogen Idec's rFIXFc Phase 3 trial on hemophilia B

Biogen Idec and Swedish Orphan Biovitrum (Sobi) today announced positive results from B-LONG, a clinical study that evaluated a new long-lasting clotting factor candidate in people with hemophilia B. Hemophilia B is a rare inherited disorder that impairs blood coagulation.