Rare Disease News and Research

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BeiGene collaborates with SpringWorks to evaluate new combinational therapy for solid tumors

BeiGene, Ltd., a commercial-stage biopharmaceutical company focused on developing and commercializing innovative molecularly-targeted and immuno-oncology drugs for the treatment of cancer, and SpringWorks Therapeutics, a clinical-stage rare disease and oncology company focused on sourcing and developing innovative treatments for underserved patient populations, announced today that the companies have entered into a global clinical collaboration agreement to evaluate the safety, tolerability and preliminary efficacy of combining BeiGene's investigational RAF dimer inhibitor, lifirafenib and SpringWorks Therapeutics' investigational MEK inhibitor, PD-0325901, in patients with advanced solid tumors.

6 Sep 2018

Pfizer terminates clinical studies evaluating domagrozumab for treatment of Duchenne muscular dystrophy

Pfizer Inc. announced today that it is terminating two ongoing clinical studies evaluating domagrozumab (PF-06252616) for the treatment of Duchenne muscular dystrophy (DMD): a Phase 2 safety and efficacy study (B5161002) and an open-label extension study (B5161004).

30 Aug 2018

Eagle Pharmaceuticals completes enrollment of second clinical study to evaluate safety, efficacy of RYANODEX

Eagle Pharmaceuticals, Inc. today announced completion of enrollment of the Company's second clinical study to further evaluate the safety and efficacy of RYANODEX® (dantrolene sodium for injectable suspension) for the treatment of exertional heat stroke, an investigational new indication for the product.

30 Aug 2018

FDA approves first drug for treatment of rare disease affecting the cornea

The U.S. Food and Drug Administration today approved the first drug, Oxervate (cenegermin), for the treatment of neurotrophic keratitis, a rare disease affecting the cornea (the clear layer that covers the colored portion of the front of the eye).

23 Aug 2018

RDMD raises $3 million in seed funding to accelerate rare disease research, drug development

RDMD, a healthcare technology company dedicated to accelerating research for patients with rare diseases, today announced that it has raised $3 million in seed financing.

20 Aug 2018

Insight into endocrine cancers and treatment options

Aretha Franklin died of a neuroendocrine pancreatic tumor, a rare disease where patients often exhibit few symptoms at first.

19 Aug 2018

Scientists pinpoint the cause of a rare childhood seizure disorder

Scientists have developed a set of computational tools that pinpoint the cause of Early Infantile Epileptic Encephalopathy (EIEE), a rare childhood disorder.

13 Aug 2018

Researchers discover genetic mutation underlying debilitating childhood brain disorder

Ashleigh Schaffer, PhD, assistant professor of genetics at Case Western Reserve University School of Medicine, and a team of global genetics experts have discovered a genetic mutation and the faulty development process it triggers, causing a debilitating brain-based disorder in children.

9 Aug 2018

EMA grants orphan designation to selumetinib for treatment of neurofibromatosis type 1

AstraZeneca and Merck, known as MSD outside the U.S. and Canada, today announced that the European Medicines Agency (EMA) has granted orphan designation to selumetinib, a MEK 1/2 inhibitor, for the treatment of neurofibromatosis type 1 (NF1).

3 Aug 2018

CHOP experts identify new autoimmune disorder along with personalized treatment for young patient

Elijah Patino is a happy, healthy seven-year-old now, but it took a while to get there. For much of his life, he had a mysterious disease that made it painful to eat and painful to play.

2 Aug 2018

Regenacy Pharmaceuticals partners with CMTA to advance ricolinostat for treating hereditary neuropathy

Regenacy Pharmaceuticals, LLC, a clinical-stage biopharmaceutical company developing breakthrough treatments for diabetic and other peripheral neuropathies, today announced a collaboration with the Charcot-Marie-Tooth Association, a registered non-profit organization serving the hereditary neuropathy patient community, to validate the role of HDAC6 in multiple forms of Charcot-Marie-Tooth disease and evaluate the efficacy of ricolinostat, a selective HDAC6 inhibitor, in animal models.

2 Aug 2018

Researchers reveal molecular mechanisms that make people with EV prone to ß-HPVs

Keratinocyte skin cells are common targets of the beta subtype of human papilloma virus. This usually harmless infection causes skin disease in people with rare gene mutations.

2 Aug 2018

Harnessing Pediatric Cancer Genomic Data in the Cloud

Dr. Jinghui Zhang, an esteemed computational biologist at St. Jude Children's Research Hospital discusses her latest study and how technology such as cloud computing is changing the way that scientists carry out research.

21 Jun 2018

UT Southwestern scientists identify gene mutation linked with perplexing brain condition

Scientists conducting one of the largest full DNA analyses of a rare disease have identified a gene mutation associated with a perplexing brain condition that blinds and paralyzes patients.

20 Jun 2018

Coconut oil diet increases vitality, lifespan of fruit flies with peroxisomal disorder

"Lorenzo's Oil" was to help a seriously ill boy suffering from a peroxisomal disorder (adrenoleukodystrophy/ALD). The true story was turned into a film which made the rare disease well known. Scientists from the University of Bonn, the German Center for Neurodegenerative Diseases and the German Cancer Research Center investigated such peroxisomal diseases on fruit flies.

20 Jun 2018

Scientists identify novel genes linked with infantile forms of schizophrenia

Scientists at the Montreal Neurological Institute and Hospital and McGill University have identified novel genes associated with a specific form of schizophrenia.

19 Jun 2018

Diabetes diagnosis may come with increased risk of pancreatic cancer for African-Americans, Latinos

Each year, more than one million Americans are diagnosed with adult-onset diabetes mellitus, also known as type 2 diabetes. The new diagnosis comes with a long list of potential complications: high blood pressure, nerve damage, kidney disease, stroke, glaucoma and more.

18 Jun 2018

Study provides insights into genetics underlying debilitating pediatric kidney disease

New research provides insights into the genetics underlying a debilitating kidney disease in children. The findings, which appear in an upcoming issue of the Journal of the American Society of Nephrology, could lead to new diagnostics and, ultimately, treatments.

14 Jun 2018

Study finds factors that help or hinder patient involvement in clinical trials of mitochondrial disease

As clinical trials gear up with the aim of attaining the first FDA-approved treatments for mitochondrial disease, a new study reports for the first time what patients and families say would motivate them for or against participating in such research trials.

7 Jun 2018

New cell-based technologies could help improve understanding of muscle-wasting disease

Researchers from Queen Mary University of London have developed new cell-based technologies which could help improve understanding of the muscle-wasting disease Duchenne muscular dystrophy (DMD) and test potential drugs for the disease.

6 Jun 2018

Rare Disease News and Research

BeiGene collaborates with SpringWorks to evaluate new combinational therapy for solid tumors

Pfizer terminates clinical studies evaluating domagrozumab for treatment of Duchenne muscular dystrophy

Eagle Pharmaceuticals completes enrollment of second clinical study to evaluate safety, efficacy of RYANODEX

FDA approves first drug for treatment of rare disease affecting the cornea

RDMD raises $3 million in seed funding to accelerate rare disease research, drug development

Insight into endocrine cancers and treatment options

Scientists pinpoint the cause of a rare childhood seizure disorder

Researchers discover genetic mutation underlying debilitating childhood brain disorder

EMA grants orphan designation to selumetinib for treatment of neurofibromatosis type 1

CHOP experts identify new autoimmune disorder along with personalized treatment for young patient

Regenacy Pharmaceuticals partners with CMTA to advance ricolinostat for treating hereditary neuropathy

Researchers reveal molecular mechanisms that make people with EV prone to ß-HPVs

Harnessing Pediatric Cancer Genomic Data in the Cloud

UT Southwestern scientists identify gene mutation linked with perplexing brain condition

Coconut oil diet increases vitality, lifespan of fruit flies with peroxisomal disorder

Scientists identify novel genes linked with infantile forms of schizophrenia

Diabetes diagnosis may come with increased risk of pancreatic cancer for African-Americans, Latinos

Study provides insights into genetics underlying debilitating pediatric kidney disease

Study finds factors that help or hinder patient involvement in clinical trials of mitochondrial disease

New cell-based technologies could help improve understanding of muscle-wasting disease

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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