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QLT's oral synthetic retinoid granted orphan drug designation for treatment of Leber Congenital Amaurosis

QLT Inc. today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation for QLT091001, its oral synthetic retinoid, for the treatment of Leber Congenital Amaurosis (LCA). LCA is an inherited progressive retinal degenerative disease that leads to retinal dysfunction and visual impairment beginning at birth. QLT091001 is an orally administered synthetic retinoid replacement for 11-cis-retinal, which is a key biochemical component of the visual retinoid cycle.

8 Dec 2010

FDA grants QLT's QLT091001 orphan drug designation for treatment of Retinitis Pigmentosa

QLT Inc. today announced that QLT091001, the Company's oral synthetic retinoid, has been granted orphan drug designation for the treatment of Retinitis Pigmentosa (RP) from the U.S. Food and Drug Administration (FDA). This follows the FDA grant of orphan drug designation for QLT091001 for the treatment of Leber Congenital Amaurosis (LCA) also on December 7, 2010.

8 Dec 2010

Expansion of newborn screening throws some families on a journey of great uncertainty

Mandatory genetic screening of newborns for rare diseases is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.

7 Dec 2010

First patient dosed with rFVIIIFc in A-LONG trial

Biogen Idec and Swedish Orphan Biovitrum today announced that the first patient has been dosed with the companies' long-lasting recombinant Factor VIII Fc fusion protein (rFVIIIFc) in a global registrational clinical trial. The study, called A-LONG, is an open-label, multicenter, Phase 2/3 study designed to evaluate the safety, pharmacokinetics and efficacy of rFVIIIFc in previously-treated hemophilia A patients.

6 Dec 2010

Researchers identify blip in gene that causes JMP syndrome

UT Southwestern Medical Center researchers have identified a gene responsible for a rare disease that results in severe joint stiffness, muscle loss, anemia and panniculitis-induced lipodystrophy, or JMP syndrome.

2 Dec 2010

Aegerion third quarter net loss increases to $6.2 million

Aegerion Pharmaceuticals, Inc., an emerging biopharmaceutical company focused on the development and commercialization of novel therapeutics to treat severe lipid disorders, announced its financial results and business highlights for the third quarter ended September 30, 2010.

30 Nov 2010

Centenary Institute launches new BD LSR-9 Flow Cytometer with nine lasers for studies of rare cells

A world-first research system to be launched today at the Centenary Institute will give medical researchers in Australia a new weapon in the fight against cancer and other life-threatening diseases. The new BD LSR-9 Flow Cytometer with its nine lasers will be the first user-operated flow cytometer with unprecedented ability to detect and analyse rare cells.

24 Nov 2010

NC family hopes to win Pepsi Refresh Project grant to fund research for Alternating Hemiplegia of Childhood

A Rolesville, NC family is hoping to win the Pepsi Refresh Project that could help to find a cure for a rare neurological disorder for which there is no current cure. Matthew Wuchich, age 3, was diagnosed with Alternating Hemiplegia of Childhood or AHC when he was 18 months old. Winning the grant is important to the family and to others with the disease since rare diseases often are overlooked by more common ailments.

23 Nov 2010

Alexion's Soliris Phase 2 clinical study for aHUS meets primary, secondary endpoints

Alexion Pharmaceuticals, Inc. announced today that a Phase 2 clinical study investigating Soliris (eculizumab) as a treatment for patients with atypical Hemolytic Uremic Syndrome (aHUS) who are resistant to plasma therapy met primary and key secondary endpoints with high levels of statistical and clinical significance, according to results presented today at the American Society of Nephrology (ASN) annual meeting in Denver.

21 Nov 2010

ENERCA network organizes European Symposium on rare anemias

It is estimated that rare diseases -those whose frequency is under 5 cases / 10,000 people- affect about 6% of the European population. In the field of anemia, 1% of couples are at risk of having a newborn with a severe syndrome of hemoglobin. More than 330,000 children are born worldwide each year affected by one of these diseases, being the most common disorders sickle cell anemia and thalassemia syndromes.

19 Nov 2010

International businessman donates $50,000 for SCCO cancer study

International businessman and philanthropist Foster Friess has donated $50,000 to help launch a study of small cell carcinoma of the ovary (SCCO) by the Translational Genomics Research Institute (TGen) and the Van Andel Research Institute (VARI).

19 Nov 2010

Advanced Life Sciences submits application to FDA for ALS-886 to treat ARDS

Advanced Life Sciences Holdings, Inc., a biopharmaceutical company engaged in the discovery, development and commercialization of novel drugs in the therapeutic areas of infection, oncology and respiratory diseases, today announced that the Company has applied to the U.S. Food and Drug Administration for orphan drug designation for ALS-886, a novel therapy to reduce and prevent tissue damage, for the treatment of Acute Respiratory Distress Syndrome (ARDS).

19 Nov 2010

Sekisui enters asset purchase agreement to acquire Genzyme's Diagnostic products

Genzyme Corporation today announced that it has entered into an asset purchase agreement under which Sekisui Chemical Co., Ltd. will acquire Genzyme's Diagnostic products business for $265 million in cash.

19 Nov 2010

Sangart's MP4CO receives orphan drug designation for acute pain in sickle cell disease

Sangart, Inc., a global biopharmaceutical company dedicated to developing life-saving medicines specifically designed to enhance the perfusion and oxygenation of ischemic (oxygen deprived) tissues through targeted oxygen and other gas delivery, today announced that its investigational biopharmaceutical product, MP4CO, has been awarded orphan drug designation by the U.S. Food and Drug Administration (FDA) for use in treating acute painful sickling crises in patients with sickle cell disease.

15 Nov 2010

Dyax to present data of KALBITOR inhibitor for Angioedema at ACAAI Meeting

Dyax Corp. today announced that an abstract featuring KALBITOR (ecallantide) data was accepted for oral presentation at the American College of Allergy, Asthma and Immunology (ACAAI) Annual Meeting held November 11-16, at the Phoenix Convention Center in Phoenix, AZ. Two additional abstracts were selected as poster sessions.

15 Nov 2010

Women taking HPV vaccine need only two HPV screening tests for rest of their lives: Research

Women who have had the human papillomavirus vaccine could need only two HPV screening tests for the rest of their lives according to new calculations being presented at the NCRI Cancer Conference in Liverpool.

10 Nov 2010

Synageva's SBC-102 enzyme replacement therapy for LAL deficiency granted European orphan product designation

Synageva BioPharma Corp., a privately held biopharmaceutical company, announced that the European Medicines Agency (EMA) granted orphan product designation for SBC-102 (Recombinant Human Lysosomal Acid Lipase), the Company's enzyme replacement therapy in development to treat Lysosomal Acid Lipase (LAL) Deficiency.

10 Nov 2010

Synageva receives $2.3 million under QTDP program

Synageva BioPharma Corp., a privately held biopharmaceutical company developing novel treatments for rare diseases, today announced that the US Treasury Department awarded approximately $2.3 million to Synageva BioPharma as part of the Qualifying Therapeutic Discovery Project Program.

4 Nov 2010

New simple blood test may help diagnose Niemann-Pick type C disease

A fatal genetic disorder that frequently takes years to diagnose may soon be detectable with a simple blood test, researchers at Washington University School of Medicine in St. Louis and the National Institutes of Health (NIH) report this week in Simple blood test may diagnose deadly Niemann-Pick type C disease.

4 Nov 2010

FDA approves cancer drug Afinitor for treatment of rare genetic disorder

The U.S. Food and Drug Administration approved the cancer drug Afinitor (everolimus) on Friday to treat patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis (TS), a rare genetic disorder. This approval was for treatments of SEGA that can not be treated with surgery.

1 Nov 2010

Rare Disease News and Research

QLT's oral synthetic retinoid granted orphan drug designation for treatment of Leber Congenital Amaurosis

FDA grants QLT's QLT091001 orphan drug designation for treatment of Retinitis Pigmentosa

Expansion of newborn screening throws some families on a journey of great uncertainty

First patient dosed with rFVIIIFc in A-LONG trial

Researchers identify blip in gene that causes JMP syndrome

Aegerion third quarter net loss increases to $6.2 million

Centenary Institute launches new BD LSR-9 Flow Cytometer with nine lasers for studies of rare cells

NC family hopes to win Pepsi Refresh Project grant to fund research for Alternating Hemiplegia of Childhood

Alexion's Soliris Phase 2 clinical study for aHUS meets primary, secondary endpoints

ENERCA network organizes European Symposium on rare anemias

International businessman donates $50,000 for SCCO cancer study

Advanced Life Sciences submits application to FDA for ALS-886 to treat ARDS

Sekisui enters asset purchase agreement to acquire Genzyme's Diagnostic products

Sangart's MP4CO receives orphan drug designation for acute pain in sickle cell disease

Dyax to present data of KALBITOR inhibitor for Angioedema at ACAAI Meeting

Women taking HPV vaccine need only two HPV screening tests for rest of their lives: Research

Synageva's SBC-102 enzyme replacement therapy for LAL deficiency granted European orphan product designation

Synageva receives $2.3 million under QTDP program

New simple blood test may help diagnose Niemann-Pick type C disease

FDA approves cancer drug Afinitor for treatment of rare genetic disorder

Event guide: 4th Extra-Hepatic Lipid-Based Nanoparticles Delivery Summit eBook

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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