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Bayer receives FDA approval for Stivarga to treat advanced gastrointestinal stromal tumors

The U.S. Food and Drug Administration today expanded the approved use of Stivarga (regorafenib) to treat patients with advanced gastrointestinal stromal tumors (GIST) that cannot be surgically removed and no longer respond to other FDA-approved treatments for this disease.

26 Feb 2013

Orphan, CU to develop enzyme replacement therapy for CBS-deficient homocystinuria

The University of Colorado (CU) has signed exclusive, worldwide licensing and collaboration agreements with rare-disease research-and-development firm Orphan Technologies Ltd to develop an enzyme replacement therapy for Cystathionine Beta-Synthase (CBS) -deficient homocystinuria, a rare, inherited metabolic disease that is often fatal at a young age.

25 Feb 2013

Osteopontin plays a role in X-linked hypophosphatemia

Diagnosed in toddlers, X-linked hypophosphatemia (XLH) is the most common form of heritable rickets, in which soft bones bend and deform, and tooth abscesses develop because infections penetrate soft teeth that are not properly calcified. Researchers at McGill University and the Federal University of Sao Paulo have identified that osteopontin, a major bone and tooth substrate protein, plays a role in XLH. Their discovery may pave the way to effectively treating this rare disease.

21 Feb 2013

Allergan receives FDA approval for Natrelle 410 breast implant

The U.S. Food and Drug Administration today approved the Natrelle 410 Highly Cohesive Anatomically Shaped Silicone-Gel Filled Breast Implant to increase breast size (augmentation) in women at least 22 years old and to rebuild breast tissue (reconstruction) in women of any age. Natrelle 410 implants are manufactured by Allergan, Inc.

20 Feb 2013

Experts identify new gene responsible for spinal meningioma

Genetic medicine experts from Manchester Biomedical Research Centre at Saint Mary's Hospital and The University of Manchester have identified a new gene responsible for causing an inherited form of tumour, known as spinal meningioma.

From The University of Manchester 19 Feb 2013

rEVO Biologics announces results from Atryn phase 3 studies on pregnant AT-deficient women

rEVO Biologics announced today the results of a major retrospective study analysis of its pivotal phase 3 studies which demonstrate that pregnant patients with hereditary antithrombin deficiency (HD) benefit from ATryn Antithrombin (Recombinant) therapy to prevent venous thromboembolic events (VTE).

16 Feb 2013

Positive new data from Genzyme’s eliglustat tartrate Phase 3 studies on Gaucher disease type 1

Genzyme, a Sanofi company, today announced positive new data from the Phase 3 ENGAGE and ENCORE studies of eliglustat tartrate, its investigational oral therapy for Gaucher disease type 1.

15 Feb 2013

Link between Jagged-1 protein and bone formation

Researchers from the University of Pennsylvania School of Veterinary Medicine have discovered that a protein called Jagged-1 stimulates human stem cells to differentiate into bone-producing cells.

14 Feb 2013

New medication could help patients with renal tumours triggered by tuberous sclerosis

In collaboration with the Berlin TSC Centre, Charité - Universitätsmedizin Berlin has developed a new therapy for patients suffering from renal tumours associated with the rare genetic disease tuberous sclerosis (TSC).

13 Feb 2013

Biogen Idec, Sobi release data from rFVIIIFc and rFIXFc phase 3 trials on hemophilia

Biogen Idec and Swedish Orphan Biovitrum (Sobi) released data that confirmed the ability of investigational recombinant factors VIII Fc fusion protein (rFVIIIFc) and IX Fc fusion protein (rFIXFc) to provide long-lasting protection from bleeding with fewer injections than are required with the current standard of care for people with hemophilia.

10 Feb 2013

Celgene's Pomalyst receives FDA approval for treatment of multiple myeloma

The U.S. Food and Drug Administration today approved Pomalyst (pomalidomide) to treat patients with multiple myeloma whose disease progressed after being treated with other cancer drugs.

10 Feb 2013

Researchers design guideline for physicians and patients on Androgen Insensitivity Syndrome

University of Granada researchers have designed a guideline for physicians and patients on the Androgen Insensitivity Syndrome (AIS), a rare disease that makes the subject develop reverse sex, which occurs when a subject looks like a woman but has male genes.

7 Feb 2013

Orphan, St George's sign licensing agreement to develop new therapies for metabolic disorders

St George's, University of London has signed an exclusive worldwide licensing agreement with rare-disease research-and-development firm Orphan Technologies Ltd to develop new therapies for deadly metabolic disorders.

5 Feb 2013

Synageva announces 12-week data from sebelipase alfa Phase I/II study on LAL Deficiency

Synageva BioPharma Corp. (Synageva), a clinical stage biopharmaceutical company developing therapeutic products for rare diseases, today announced publication of the 12-week Phase I/II extension study data of sebelipase alfa in adults with lysosomal acid lipase deficiency (LAL Deficiency) in the online version and an upcoming print edition of Hepatology

5 Feb 2013

Hyperion Therapeutics receives FDA approval for Ravicti to treat urea cycle disorders

The U.S. Food and Drug Administration today approved Ravicti (glycerol phenylbutyrate) for the chronic management of some urea cycle disorders (UCDs) in patients ages 2 years and older.

1 Feb 2013

FDA approves Genzyme’s KYNAMRO to treat homozygous familial hypercholesterolemia

Genzyme, a Sanofi company, and Isis Pharmaceuticals Inc., today announced that the U.S. Food and Drug Administration (FDA) has approved its New Drug Application (NDA) for KYNAMROTM (mipomersen sodium) injection.

30 Jan 2013

One-step, off-the-shelf tool can help evaluate genetic cause of mitochondrial diseases

More powerful gene-sequencing tools have increasingly been uncovering disease secrets in DNA within the cell nucleus. Now a research team is expanding those rapid next-generation sequencing tests to analyze a separate source of DNA—within the genes inside mitochondria, cellular power plants that, when abnormal, contribute to complex, multisystem diseases.

29 Jan 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

Children's Oakland recruits patients for deferiprone clinical trial to treat PKAN

A groundbreaking, international clinical trial of an iron chelation drug, deferiprone, to treat the rare and devastating neurodegenerative disease, pantothenate kinase-associated neurodegeneration (PKAN), began last month at the trial's only North American site, Children's Hospital & Research Center Oakland.

17 Jan 2013

Patients with COPD more likely to develop serious bacterial infections

It is well known that COPD patients run a higher risk of contracting respiratory infections. However, a new thesis from Lund University in Sweden shows that they are also at higher risk of other bacterial infections, such as tuberculosis (TB) and pneumococcal and staphylococcal infections that can cause serious illness.

16 Jan 2013