Rare Disease News and Research

RSS

Lonafarnib proves effective for children with progeria

Results of the first-ever clinical drug trial for children with Progeria, a rare, fatal "rapid-aging" disease, demonstrate the efficacy of a farnesyltransferase inhibitor (FTI), a drug originally developed to treat cancer. The clinical trial results, completed only six years after scientists identified the cause of Progeria, included significant improvements in weight gain, bone structure and, most importantly, the cardiovascular system, according to The Progeria Research Foundation (PRF) and Boston Children's Hospital.

25 Sep 2012

Boehringer Ingelheim completes enrollment in nintedanib Phase III trials for IPF

Boehringer Ingelheim is pleased to announce the last patients have been randomised into the Phase III sister trials assessing the efficacy and safety of nintedanib (150 mg twice daily) in patients with idiopathic pulmonary fibrosis (IPF).

24 Sep 2012

New mouse models can help scientists study SECISBP2 syndrome

New mouse models can help scientists study a rare disease, called SECISBP2 syndrome, that causes abnormal thyroid hormone metabolism, delayed bone maturation, as well as other abnormal characteristics that vary by individual, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.

24 Sep 2012

Limited positive effect of Tafamidis in neurological disorders

Tafamidis meglumine was approved in November 2011 for the treatment of transthyretin amyloidosis in adults.

17 Sep 2012

Researchers discover genetic cause of hereditary spastic ataxia

Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU-Sainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in patients originating from Newfoundland: hereditary spastic ataxia (HSA).

7 Sep 2012

Novartis receives FDA approval for Afinitor Disperz to treat subependymal giant cell astrocytoma

The U.S. Food and Drug Administration today approved Afinitor Disperz (everolimus tablets for oral suspension), a new pediatric dosage form of the anti-cancer drug Afinitor (everolimus) used to treat a rare brain tumor called subependymal giant cell astrocytoma.

30 Aug 2012

High doses of vitamin B3 stimulate CEBPE gene, enhance WBCs’ ability to combat staph infections

Cedars-Sinai researchers have found that a common vitamin may have the potential to provide a powerful weapon to fight certain "superbugs," antibiotic-resistant staph infections that health experts see as a threat to public health.

28 Aug 2012

Debiopharm initiates enrollment in triptorelin phase III study for central precocious puberty

Debiopharm Group (Debiopharm), a Swiss-based global biopharmaceutical group of companies with a focus on the development of prescription drugs that target unmet medical needs and companion diagnostics, today announced that the first patient has been enrolled in an open-label phase III study to investigate the efficacy, safety, and pharmacokinetics of the sustained release triptorelin pamoate 22.5 mg 6-month-formulation in children with central precocious puberty (CPP), a rare disease.

27 Aug 2012

Researchers discover new genetic disease related to vitamin B12 deficiency

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, psychosis, stroke and dementia. An international research team recently discovered a new genetic disease related to vitamin B12 deficiency by identifying a gene that is vital to the transport of vitamin into the cells of the body.

27 Aug 2012

MitoTarget Project and neurodegenerative diseases: an interview with Rebecca Pruss, Ph.D., CSO of Trophos

The MitoTarget Project was a project funded by the European Commission, under their FP7 programme. It was funding for a call published in 2007.

21 Aug 2012

Trial to test efficacy of NeuRx Diaphragm Pacing System in people with Lou Gehrig's disease

The Muscular Dystrophy Association (MDA) and The ALS Association today announced a joint commitment to provide funding for a phase 2 clinical trial that will test efficacy of the NeuRx Diaphragm Pacing System (DPS) in people with amyotrophic lateral sclerosis (ALS).

15 Aug 2012

TAIN project aims to optimise treatment for babies with adrenal insufficiency

Groundbreaking research into rare neonatal diseases, conducted by the University of Sheffield, is set to improve the treatment of babies who lack the stress hormone cortisol.

15 Aug 2012

ALS risk markedly lower among alcohol consumers

A population-based case-control study of the rare but devastating neurological disease amyotrophic lateral sclerosis (ALS) has shown that the risk of such disease is increased among smokers, as has been shown previously. However, surprisingly, the risk of ALS was found to be markedly lower among consumers of alcohol than among abstainers.

13 Aug 2012

FDA approved drug to treat Ph- acute lymphoblastic leukemia

The U.S. Food and Drug Administration today approved Marqibo (vincristine sulfate liposome injection) to treat adults with a rare type of leukemia called Philadelphia chromosome negative (Ph-) acute lymphoblastic leukemia (ALL). ALL is a rapidly progressing form of blood and bone marrow cancer that is more commonly diagnosed in children than adults.

10 Aug 2012

Two major classes of brain cells repress neural activity in specific mathematical ways

The brain has billions of neurons, arranged in complex circuits that allow us to perceive the world, control our movements and make decisions. Deciphering those circuits is critical to understanding how the brain works and what goes wrong in neurological disorders.

9 Aug 2012

UI Hospital implants NeuRx Diaphragm Pacing System in a patient with ALS

The University of Illinois Hospital & Health Sciences System is one of only a dozen hospitals nationwide to implant the NeuRx Diaphragm Pacing System in a patient with amyotrophic lateral sclerosis (ALS).

3 Aug 2012

Hint of tafamidis benefit in rare polyneuropathy

The results of a randomized trial suggest that tafamidis treatment may slow the progression of early-stage V30M transthyretin familial amyloid polyneuropathy.

2 Aug 2012

FibroGen receives FDA Orphan Drug Designation for FG-3019 to treat IPF

FibroGen, Inc., today announced that FG-3019, the Company's human monoclonal antibody against connective tissue growth factor (CTGF), has been granted Orphan Drug Designation by the U.S. Food and Drug Administration (FDA) for the treatment of idiopathic pulmonary fibrosis (IPF).

31 Jul 2012

Scientists identify new gene responsible for genetic form of blindness in newborns

One of the mysteries of blindness has been solved. A team of international scientists in collaboration with the Research Institute of the McGill University Health Centre (RI MUHC) identified a new gene responsible for Leber Congenital Amaurosis (LCA), a devastating genetic form of blindness in newborns.

30 Jul 2012

LPL deficiency treatment poised to be first gene therapy in Europe

For the first time, the European Medicines Agency has recommended gene therapy for approval in Europe.

26 Jul 2012