Rare Disease News and Research

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FDA grants accelerated approval for Tagrisso to treat patients with advanced NSCLC

Today, the U.S. Food and Drug Administration granted accelerated approval for an oral medication to treat patients with advanced non-small cell lung cancer (NSCLC). Tagrisso (osimertinib) is now approved for patients whose tumors have a specific epidermal growth factor receptor (EGFR) mutation (T790M) and whose disease has gotten worse after treatment with other EGFR-blocking therapy.

14 Nov 2015

Cotellic (cobimetinib) approved to be used in combination with vemurafenib for melanoma treatment

The U.S. Food and Drug Administration today approved Cotellic (cobimetinib) to be used in combination with vemurafenib to treat advanced melanoma that has spread to other parts of the body or can't be removed by surgery, and that has a certain type of abnormal gene (BRAF V600E or V600K mutation).

10 Nov 2015

Idera begins enrollment in IMO-8400 Phase 2 clinical trial for treatment of dermatomyositis

Idera Pharmaceuticals, Inc., a clinical-stage biopharmaceutical company developing Toll-like receptor (TLR) and RNA therapeutics for patients with cancer and rare diseases, today announced that the company has commenced enrollment in a Phase 2 clinical trial of IMO-8400, an investigational TLR 7, 8 and 9 antagonist, in patients with dermatomyositis. Dermatomyositis is a rare and debilitating inflammatory muscle and skin disease associated with significant morbidity, decreased quality of life and an increased risk of premature death.

10 Nov 2015

Alnylam presents positive ongoing phase 2 open-label extension data for Patisiran and Revusiran

Alnylam Pharmaceuticals, Inc. has announced new results from its ongoing Phase 2 open-label extension (OLE) studies with patisiran and revusiran, investigational RNAi therapeutics targeting transthyretin (TTR) for the treatment of TTR-mediated amyloidosis (ATTR amyloidosis).

3 Nov 2015

Mallinckrodt announces approval of INOmax for cardiovascular surgery in Australia and Japan

Mallinckrodt plc, a leading specialty biopharmaceutical company, today announced that INOmax (nitric oxide) for inhalation has received regulatory approval in Australia and Japan for pulmonary hypertension in conjunction with heart surgery.

30 Oct 2015

Ultragenyx, Arcturus sign agreement to develop mRNA therapeutics to certain rare diseases

Ultragenyx Pharmaceutical Inc., a biopharmaceutical company focused on the development of novel products for rare and ultra-rare diseases, and Arcturus Therapeutics, Inc., a leading RNA medicines company, today announced that they have entered into a research collaboration and license agreement to discover and develop messenger RNA (mRNA) therapeutics to certain rare disease targets using Arcturus' UNA Oligomer chemistry and LUNAR nanoparticle delivery platform.

29 Oct 2015

Vasculitis Foundation named winner in Nonprofit Connect 2015 Philly Awards

The Vasculitis Foundation has been chosen as a winner in the Nonprofit Connect 2015 Philly Awards. Nonprofit Connect holds this competition to recognize outstanding achievements in nonprofit marketing and communications.

29 Oct 2015

Scalable production of gene therapy vectors: an interview with Frank Ubags

Gene therapy involves introducing genetic material into cells to replace missing or malfunctioning genes or to add a gene to express a beneficial protein in order to treat certain diseases, such as cancer or inherited disorders.

26 Oct 2015

NORD launches first-ever State Progress Report on rare disease treatment

With patient access to health care becoming increasingly dependent upon state policies, the National Organization for Rare Disorders has developed and released the first-ever State Progress Report to evaluate how states are serving the 30 million Americans with rare diseases.

26 Oct 2015

Strensiq approved for treatment of patients with juvenile-onset HPP

Today, the U.S. Food and Drug Administration approved Strensiq (asfotase alfa) as the first approved treatment for perinatal, infantile and juvenile-onset hypophosphatasia (HPP).

24 Oct 2015

Successful treatment of rare neurodegenerative disease exemplifies potential of precision medicine

A 20-month-old girl suffering from a rare neurodegenerative disease was diagnosed by exome sequencing and successfully treated.

23 Oct 2015

New combination treatment approved by FDA for metastatic pancreatic cancer

The U.S. Food and Drug Administration today approved Onivyde (irinotecan liposome injection), in combination with fluorouracil and leucovorin, to treat patients with advanced (metastatic) pancreatic cancer who have been previously treated with gemcitabine-based chemotherapy.

23 Oct 2015

$Cesarean delivery does not reduce fracture risk in newborns with rare bone disorder$

Cesarean delivery does not reduce fracture risk in newborns with rare bone disorder

Cesarean delivery was not associated with decrease in the at-birth fracture rates in infants with osteogenesis imperfecta, a rare bone disorder, said a consortium of researchers led by Baylor College of Medicine.

23 Oct 2015

Coagadex now approved by FDA for patients with hereditary Factor X deficiency

The U.S. Food and Drug Administration today approved Coagadex, Coagulation Factor X (Human), for hereditary Factor X (10) deficiency. Until today's orphan drug approval, no specific coagulation factor replacement therapy was available for patients with hereditary Factor X deficiency.

21 Oct 2015

Lexicon's telotristat etiprate improves social and physical function, emotional well-being in cancer patients

Lexicon Pharmaceuticals, Inc.'s telotristat etiprate, the first oral therapy in development for the treatment of carcinoid syndrome (CS), was associated with patient-reported improvements in social and physical function and emotional well-being according to new exit interview data from the Phase 3 TELESTAR study presented at the 2015 Neuroendocrine Tumor Society Annual Symposium in Austin, Texas.

19 Oct 2015

Rare disease diagnosis available in days not years: BIA announcement

It currently takes 5 years on average to diagnose a child with a rare genetic disease, so he or she can receive the most appropriate care. This is set to change with an agreement facilitated by Northern Health Science Alliance (NHSA) between Congenica and 5 of its member hospitals, which will see them adopt the company’s world leading Sapientia™ technology.

16 Oct 2015

TxCell reviews its manufacturing strategy to focus on R&D and strategic partnerships - its core, high added value businesses

TxCell SA, a biotechnology company developing innovative, personalized T cell immunotherapies using antigen specific regulatory T-cells (Ag-Tregs) for severe chronic inflammatory and autoimmune diseases, announces today that it is operating a strategic review that should result in the outsourcing of all existing and future clinical and commercial manufacturing operations to contract manufacturing organizations (CMOs).

15 Oct 2015

Study: RNA editing technique shows promise in treating rare, severe form of muscular dystrophy

An RNA editing technique called "exon skipping" has shown preliminary success in treating a rare and severe form of muscular dystrophy that currently has no treatment, based on a new study from Northwestern Medicine and the University of Chicago. Children with the disease lose significant muscle strength early in life.

13 Oct 2015

FDA awards research grants to boost product development for patients with rare diseases

The U.S. Food and Drug Administration today announced it has awarded 18 new research grants totaling more than $19 million to boost the development of products for patients with rare diseases, which affect the lives of nearly 30 million Americans.

11 Oct 2015

Xuriden (uridine triacetate) now approved for patients with hereditary orotic aciduria

Today, the U.S. Food and Drug Administration approved Xuriden (uridine triacetate), the first FDA-approved treatment for patients with hereditary orotic aciduria. Hereditary orotic aciduria is a rare metabolic disorder, which has been reported in approximately 20 patients worldwide.

9 Oct 2015

Rare Disease News and Research

FDA grants accelerated approval for Tagrisso to treat patients with advanced NSCLC

Cotellic (cobimetinib) approved to be used in combination with vemurafenib for melanoma treatment

Idera begins enrollment in IMO-8400 Phase 2 clinical trial for treatment of dermatomyositis

Alnylam presents positive ongoing phase 2 open-label extension data for Patisiran and Revusiran

Mallinckrodt announces approval of INOmax for cardiovascular surgery in Australia and Japan

Ultragenyx, Arcturus sign agreement to develop mRNA therapeutics to certain rare diseases

Vasculitis Foundation named winner in Nonprofit Connect 2015 Philly Awards

Scalable production of gene therapy vectors: an interview with Frank Ubags

NORD launches first-ever State Progress Report on rare disease treatment

Strensiq approved for treatment of patients with juvenile-onset HPP

Successful treatment of rare neurodegenerative disease exemplifies potential of precision medicine

New combination treatment approved by FDA for metastatic pancreatic cancer

Cesarean delivery does not reduce fracture risk in newborns with rare bone disorder

Coagadex now approved by FDA for patients with hereditary Factor X deficiency

Lexicon's telotristat etiprate improves social and physical function, emotional well-being in cancer patients

Rare disease diagnosis available in days not years: BIA announcement

TxCell reviews its manufacturing strategy to focus on R&D and strategic partnerships - its core, high added value businesses

Study: RNA editing technique shows promise in treating rare, severe form of muscular dystrophy

FDA awards research grants to boost product development for patients with rare diseases

Xuriden (uridine triacetate) now approved for patients with hereditary orotic aciduria

Discover how SciY empowers scientists

Why use light scattering to analyze proteins and viral vectors?

Changing the landscape of R&D to build clinical success from the ground up

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