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Novel drug for patients with inoperable CTEPH shows improvement in international trial

After a year of being treated with a novel drug, patients with inoperable chronic thromboembolic pulmonary hypertension (CTEPH) and those with persistent or recurrent pulmonary hypertension after an operation for the disease showed sustained improvement in a multicenter, international trial presented at the 2014 American Thoracic Society International Conference.

20 May 2014

Genzyme, Isis receive 2014 Partners in Progress Corporate Award for KYNAMRO injection

Genzyme, a Sanofi company, and Isis Pharmaceuticals Inc., today announced that they have received the 2014 Partners in Progress Corporate Award from NORD in recognition of KYNAMRO (mipomersen sodium) injection.

9 May 2014

FDA approves Alexion’s Soliris drug for treatment of atypical hemolytic uremic syndrome

Alexion Pharmaceuticals, Inc. today announced that the U.S. Food and Drug Administration (FDA) has approved the Company's supplemental Biologics License Application (sBLA) providing regular approval for Soliris® (eculizumab) for the treatment of adult and pediatric patients with atypical hemolytic uremic syndrome (aHUS) to inhibit complement-mediated thrombotic microangiopathy (TMA).

6 May 2014

Boehringer announces first results of Phase III INPULSIS trials at 2014 ATS International Conference

Boehringer Ingelheim announced today that the first results of the two confirmatory Phase III INPULSISTM trials, investigating nintedanib* in the treatment of idiopathic pulmonary fibrosis (IPF), will be presented at the 2014 American Thoracic Society (ATS) International Conference taking place 16 - 21 May in San Diego

30 Apr 2014

RDT receives FDA approval for new liquid form of treatment for patients with ALL

Rare Disease Therapeutics, Inc. (RDT), the producer of orphan pharmaceuticals for the treatment of rare diseases, announced today that they have received FDA approval for PURIXAN™ (mercaptopurine) 20 mg/mL oral suspension---a new, easier-to-dose, liquid form of an established treatment for patients with Acute Lymphoblastic Leukemia (ALL).

30 Apr 2014

Vertex: Conditions of PBAC recommendation may limit Australians who could benefit from KALYDECO

The Pharmaceutical Benefits Advisory Committee has again recommended KALYDECO (ivacaftor) for listing on the Pharmaceutical Benefits Scheme (PBS). However, Vertex is deeply disappointed in the conditions the PBAC has attached to the recommendation. These conditions fail to reflect the substantial clinical benefits recognised by the PBAC, and would result in limiting the number of eligible Australians who would be able to receive KALYDECO.

30 Apr 2014

Otsuka's Deltyba gets EC marketing authorization for MDR-TB treatment

Otsuka Pharmaceutical Co., Ltd. today announced that the European Commission has granted a marketing authorization for Deltyba (delamanid) for use as part of an appropriate combination regimen for pulmonary multidrug-resistant tuberculosis (MDR-TB) in adult patients when an effective treatment regimen cannot otherwise be composed for reasons of resistance or tolerability.

30 Apr 2014

Bayer's Ciprofloxacin DPI receives FDA orphan drug designation for NCFB treatment

Bayer HealthCare today announced that the U.S. Food and Drug Administration's Office of Orphan Products Development has granted orphan drug designation for its investigational Ciprofloxacin Dry Powder for Inhalation (Ciprofloxacin DPI) for the treatment of non-cystic fibrosis bronchiectasis (NCFB).

23 Apr 2014

University of Utah software successfully identifies diseases with unknown gene mutations in three separate cases

A computational tool developed at the University of Utah (U of U) has successfully identified diseases with unknown gene mutations in three separate cases, U of U researchers and their colleagues report in a new study in The American Journal of Human Genetics. The software, Phevor (Phenotype Driven Variant Ontological Re-ranking tool), identifies undiagnosed illnesses and unknown gene mutations by analyzing the exomes, or areas of DNA where proteins that code for genes are made, in individual patients and small families.

22 Apr 2014

Synageva announces publication of LAL Deficiency review in Atherosclerosis

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare diseases, today announced the publication of an overview of lysosomal acid lipase deficiency (LAL Deficiency) in the online version and an upcoming print edition of Atherosclerosis, the official journal of the European Atherosclerosis Society.

21 Apr 2014

FDA and EC grant Orphan Drug Designation to Boehringer’s volasertib for acute myeloid leukemia

Boehringer Ingelheim Pharmaceuticals, Inc. announced today that the U.S. Food and Drug Administration (FDA) and European Commission (EC) have granted Orphan Drug Designation to volasertib for acute myeloid leukemia (AML).

21 Apr 2014

Docs who treat patients with severe LAM face agonizing treatment decision

Doctors who treat patients with a severe and progressive respiratory disease called lymphangioleiomyomatosis (LAM) can face an agonizing treatment decision.

18 Apr 2014

Boehringer grants volasertib 'orphan drug designation' for treatment of patients with AML

Boehringer Ingelheim announced today that the US Food and Drug Administration (FDA) and the European Commission have granted volasertib* 'orphan drug designation' for the treatment of patients with acute myeloid leukaemia (AML).

17 Apr 2014

Neurovive presents new breakthrough on energy regulation at cellular level

NeuroVive, a leading mitochondrial medicine company, is presenting a breakthrough in the company's work on energy regulation at the cellular level.

17 Apr 2014

Sanofi Korea launches gut health product, Probi Digestis

Probi has signed a distribution and supply agreement with Sanofi. Following this the Consumer Healthcare division of Sanofi Korea is making a major launch of Probi´s gut health product, Probi Digestis starting in April 2014. Probi has already delivered products and received substantial orders for the coming quarters.

15 Apr 2014

European scientists set up new therapeutic approaches to tackle gene defects

On 15th April is the 1st International Pompe Disease Day, a campaign to raise awareness of this rare but severe gene defect. Pompe Disease is only one of more than 40 metabolic disorders that mainly affect children under the age of 10, often with devastating consequences.

15 Apr 2014

Researchers discover tumor suppressor gene folliculin essential to normal lung function in BHD patients

11 Apr 2014

Researchers discover mechanism that control normal lung function in patients with BHD syndrome

Researchers at Penn Medicine have discovered that the tumor suppressor gene folliculin (FLCN) is essential to normal lung function in patients with the rare disease Birt-Hogg-Dube (BHD) syndrome, a genetic disorder that affects the lungs, skin and kidneys. Folliculin's absence or mutated state has a cascading effect that leads to deteriorated lung integrity and an impairment of lung function, as reported in their findings in the current issue of Cell Reports.

11 Apr 2014

Genome Project offers new leads to improve outcomes for children with high-grade glioma brain tumors

The St. Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project has identified new mutations in pediatric brain tumors known as high-grade gliomas (HGGs), which most often occur in the youngest patients.

8 Apr 2014

Adolescents in Sweden are at increased risk for type 1 diabetes than previously thought

New research published in Diabetologia (the journal of the European Association for the Study of Diabetes) suggests that Sweden-the country already thought to have the second highest prevalence of type 1 diabetes in the world-could have 2-3 times more adolescents and young adults with type 1 diabetes than previously estimated.

7 Apr 2014

Rare Disease News and Research

Novel drug for patients with inoperable CTEPH shows improvement in international trial

Genzyme, Isis receive 2014 Partners in Progress Corporate Award for KYNAMRO injection

FDA approves Alexion’s Soliris drug for treatment of atypical hemolytic uremic syndrome

Boehringer announces first results of Phase III INPULSIS trials at 2014 ATS International Conference

RDT receives FDA approval for new liquid form of treatment for patients with ALL

Vertex: Conditions of PBAC recommendation may limit Australians who could benefit from KALYDECO

Otsuka's Deltyba gets EC marketing authorization for MDR-TB treatment

Bayer's Ciprofloxacin DPI receives FDA orphan drug designation for NCFB treatment

University of Utah software successfully identifies diseases with unknown gene mutations in three separate cases

Synageva announces publication of LAL Deficiency review in Atherosclerosis

FDA and EC grant Orphan Drug Designation to Boehringer’s volasertib for acute myeloid leukemia

Docs who treat patients with severe LAM face agonizing treatment decision

Boehringer grants volasertib 'orphan drug designation' for treatment of patients with AML

Neurovive presents new breakthrough on energy regulation at cellular level

Sanofi Korea launches gut health product, Probi Digestis

European scientists set up new therapeutic approaches to tackle gene defects

Researchers discover tumor suppressor gene folliculin essential to normal lung function in BHD patients

Researchers discover mechanism that control normal lung function in patients with BHD syndrome

Genome Project offers new leads to improve outcomes for children with high-grade glioma brain tumors

Adolescents in Sweden are at increased risk for type 1 diabetes than previously thought

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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