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Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal).

20 Jan 2015

Major investment boosts Scotland's gene research

A major investment in gene sequencing technology will secure Scotland's place as a world leader in a genomics revolution that is set to transform healthcare.

14 Jan 2015

Precision NanoSystems, Arcturus Therapeutics partner to develop RNA medicines

Precision NanoSystems, a leader in the development and application of microfluidics for the manufacture of nanomedicines; and, Arcturus Therapeutics, a leading small interfering RNA (siRNA) and messenger RNA (mRNA) drug discovery and development company, today announced a partnership for the manufacture of RNA medicines.

From Precision NanoSystems Inc. 11 Jan 2015

EMA recommends orphan designation to Magnus Growth's novel therapy for placental insufficiency

Magnus Life Science today announces that the European Medicines Agency's Committee for Orphan Medicinal Products has reached a positive decision on recommending orphan designation to Magnus Growth's novel therapy to treat placental insufficiency.

8 Jan 2015

Gamida Cell granted FDA and EMA orphan drug designation for NiCord

Gamida Cell, a leader in cell therapy technologies and products for transplantation and adaptive immune therapy, announced today that orphan drug designation has been granted by The US Department of Health and Human Services, The FDA Office of Orphan Products Development (OOPD) for the investigational medicinal product NiCord for the treatment of acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), Hodgkin lymphoma and myelodysplastic syndrome (MDS).

6 Jan 2015

Neurological testing accessibility and affordability: an interview with Dr Joseph Higgins

Neurological disorders with genetic causes can be very difficult to diagnose without reliable, clinically relevant tests tailored to specific phenotypes.

From Quest Diagnostics 5 Jan 2015

Newron, Zambon announce re-submission of safinamide NDA to FDA

Newron Pharmaceuticals S.p.A., a research and development company focused on novel CNS and pain therapies, and its commercial and development partner Zambon S.p.A., an international pharmaceutical company, announced today that the NDA for safinamide has been re-submitted to the US FDA.

29 Dec 2014

Medical researchers at Saint Louis University bring hope to those in pain and sickness

This year, Saint Louis University medical researchers advanced their fields, contributing to human knowledge and bringing hope to those in pain and sickness.

23 Dec 2014

New nationwide effort seeks to find novel approaches to treat ASD, intellectual disability

Some of the genetic diseases that can cause autism spectrum disorder (ASD) and intellectual disability (ID) are so rare that even physicians who specialize in treating them can't be certain they have seen every possible symptom.

19 Dec 2014

EC grants orphan drug designation to TxCell's Col-Treg for treatment of autoimmune uveitis

TxCell SA, a biotechnology company developing innovative, cost-effective, personalized T cell immunotherapies using antigen specific regulatory T-cells (Ag-Tregs) for severe chronic inflammatory and autoimmune diseases, announces today that the European Commission (EC) has granted orphan drug designation to TxCell's investigational medicinal product Col-Treg, a personalized T cell immunotherapy using collagen-II specific regulatory T-cells, for the treatment of autoimmune uveitis.

18 Dec 2014

Isis Pharmaceuticals begins ISIS-DMPK Rx clinical study in DM1 patients

Isis Pharmaceuticals, Inc. announced today that it has initiated a study for ISIS-DMPK Rx in patients with Myotonic Dystrophy Type 1 (DM1). DM1 is a rare genetic neuromuscular disease caused by the production of toxic dystrophia myotonica-protein kinase (DMPK) RNA in cells. ISIS-DMPKRx is specifically designed to reduce toxic DMPK RNA.

16 Dec 2014

Novartis announces FDA approval of Signifor LAR for treatment of patients with acromegaly

Novartis announced today that the US Food and Drug Administration has approved Signifor long-acting release (LAR) (pasireotide) for injectable suspension, for intramuscular use, for the treatment of patients with acromegaly who have had an inadequate response to surgery and/or for whom surgery is not an option.

16 Dec 2014

Study sheds light on clinical and biological characteristics of male breast cancer

Results of the EORTC10085/TBCRC/BIG/NABCG International Male Breast Cancer Program conducted in both Europe and in the United States and presented at the 2014 San Antonio Breast Cancer Symposium found significant improvement in survival for men with breast cancer, but this improvement was not as good as that observed for women.

14 Dec 2014

Claritas, NextCODE Health partner to bring global leadership in pediatric medicine, sequence analysis

To rapidly expand the use and power of genomic sequencing for diagnosing and treating rare diseases, Claritas Genomics and NextCODE Health today announced a strategic partnership bringing together global leadership in pediatric medicine and sequence analysis. Claritas Genomics, affiliated with Boston Children's Hospital, is a CLIA-certified clinical laboratory serving the DNA-based diagnostic testing needs of children's hospitals that admit hundreds of thousands of patients with genetic disorders every year.

11 Dec 2014

Alizé Pharma completes two Phase I clinical trials of AZP-531 in healthy volunteers, obese subjects

Alizé Pharma SAS, an Alizé Pharma group company specialized in the development of biopharmaceuticals to treat metabolic disorders and rare diseases, announces today the completion of two Phase I clinical trials with its unacylated ghrelin analog AZP-531 in 76 healthy volunteers and overweight or obese subjects.

10 Dec 2014

Spark Therapeutics, Pfizer partner to develop SPK-FIX for potential treatment of hemophilia B

Spark Therapeutics, a late-stage gene therapy company developing treatments for debilitating genetic diseases, announced today that it has entered into a global collaboration with Pfizer Inc. for the development and potential commercialization of SPK-FIX, a development program advancing proprietary, bio-engineered adeno-associated virus (AAV) vectors for the potential treatment of hemophilia B.

8 Dec 2014

Amgen's XGEVA (denosumab) receives FDA approval for treatment of hypercalcemia of malignancy

Amgen today announced that the U.S. Food and Drug Administration has approved a new indication for XGEVA (denosumab) for the treatment of hypercalcemia of malignancy (HCM) refractory to bisphosphonate therapy.

8 Dec 2014

Alizé Pharma obtains exclusive worldwide rights to develop new therapy for bone diseases

Alizé Pharma III SAS, an Alizé Pharma group company specialized in the development of biopharmaceuticals to treat metabolic disorders and rare diseases, today announces that it has acquired exclusive worldwide rights to develop and commercialize a new family of peptides with bone anabolic properties.

4 Dec 2014

Many pediatric chest X-rays unnecessary, offer no clinical benefit

Researchers at Mayo Clinic found that some children are receiving chest X-rays that may be unnecessary and offer no clinical benefit to the patient, according to a study presented today at the annual meeting of the Radiological Society of North America.

3 Dec 2014

Oncolytics Biotech submits Orphan Drug Designation for pancreatic, ovarian cancers

Oncolytics Biotech Inc. ("Oncolytics") (TSX:ONC, NASDAQ: ONCY) today announced that it has submitted applications for Orphan Drug Designation to the U.S. Food and Drug Administration ("FDA") for REOLYSIN® for the treatment of pancreatic and ovarian cancers.

2 Dec 2014