RDR Alert®

A recent study provides the first large-scale evidence that the cost of care for some rare pediatric skin conditions can potentially be reduced while achieving the same outcomes.

Stay up-to-date on the latest rare disease news by reading the top 5 articles of the week.

The FDA has approved the first drug indicated for the treatment of smallpox.

The phase 3 trial evaluating ZX008 as a treatment for Dravet syndrome met its primary endpoint.

AbbVie has submitted a supplemental new drug application to the FDA for venetoclax to be used in combination with HMA or LDAC for the treatment of AML patients who are ineligible for intensive chemotherapy.

The FDA has granted orphan drug designation to Acceleron Pharma Inc for its product, ACE-083, for the treatment of facioscapulohumeral muscular dystrophy (FSHD).

Results from a phase 3 clinical trial evaluating an ibrutnib combination with a chemotherapy regimen for the treatment of diffuse large B-cell lymphoma fails to meet primary endpoint.

The FDA has accepted and granted priority review for a new supplemental Biologics License Application (sBLA) for pembrolizumab (KEYTRUDA) for the treatment of advanced hepatocellular carcinoma (HCC).

FDA Commissioner, Scott Gottlieb, MD, announced the FDA’s efforts to advance the development of gene therapies through the addition of 6 scientific guidance documents.

The FDA’s approval of Brineura in April 2017 was a landmark moment for patients with the CLN2 form of the disease, but those with the other 13 forms of Batten are still waiting.

Friedreich’s ataxia treatment, omaveloxolone, received orphan drug designation from the European Commission.

Owen A. O’Connor, MD, PhD, outlines the importance of clinical trials and reviewed strides made in lymphoma treatments.

An isotopic-reinforced polyunsaturated fatty acids shows a reduction in cognitive deficits in a preclinical in vivo model of Huntington disease.

Several promising new treatment developments are offering a ray of hope to Huntington’s patients, their at-risk children, and the clinicians who treat them.

Similar to the phase 2 MoveDMD trial, the phase 3 POLARIS trial will share the same patient population and functional endpoints.

Data from the Alcyone MEMS Cannula (AMC), which can intratumorally administer the oncolytic adenovirus, may be an effective diffuse intrinsic pontine glioma (DIPG) treatment, according to recently presented data.

Skyhawk Therapeutics and Celgene Corporation have entered into a 5-year partnership to discover, develop, and commercialize small molecule treatment options for patients with neurological diseases.

CLR 131 was granted an orphan drug designation by the US Food and Drug Administration (FDA) for the treatment of Ewing’s sarcoma, a rare pediatric cancer.

Stay up-to-date on the latest rare disease news by reading the top 5 articles of the week.

Morie Gertz, MD, discusses a new treatment for hATTR amyloidosis patients, inotersen, as it makes its way towards FDA approval.

Researchers at Penn Medicine have found patients with more severe forms of neurodegenerative diseases possess more co-pathologies.

Dr Meletios A. Dimopoulos, discusses the use of ibrutinib combined with rituximab for the treatment of patients with Waldenström macroglobulinemia.

Updated phase 1 data assessing indoximod plus front-line radiation and maintenance chemotherapy for the treatment of pediatric patients with DIPG proves promising.

Researchers from UT Southwestern Medical Center have identified 29 genes thought to contribute to rhabdomyosarcoma using the iExCN algorithm, a novel hybrid technology.

If approved, the therapeutic will be the first in a new class of medicines.

A new drug under development for the treatment of paroxysmal nocturnal hemoglobinuria has been shown to be beneficial in participants enrolled 2 ongoing phase 1b trials.

Two phase 3 studies will examine the potential for 2 compounds to be used as part of a triple combination modulator therapy for cystic fibrosis.

A recent phase 1 study evaluating ARO-AAT for the treatment of a rare genetic liver disease associated with alpha-1 antitrypsin (AAT) deficiency boasts positive initial clinical data.

Fanconi anemia has inspired Stanford researchers to develop a new test capable of detecting aldehyde in blood samples.

New study finds that half of all young children with PFIC will need a liver transplant before age 10.