RDR Alert®

Bruce Wang, MD, a porphyrias specialist and assistant professor in the gastroenterology division in the department of medicine at University of California San Francisco (UCSF) and UCSF Porphyria Center and the Porphyrias Consortium, explains acute hepatic porphyrias (AHPs).

In an interview with Rare Disease Report, Mathew Maurer, MD, Arnold and Arlene Professor of Cardiology at Columbia University, explained the standard of care and current management tactics for individuals with hATTR Amyloidosis.

Abhimanyu Garg, MD, discusses the cofactors and concerns in FCS treatments.

Abhimanyu Garg, MD, indicates the importance of neonatal screening for familial chylomicronemia syndrome (FCS).

This morning, it was announced that Invitae Corporation and Sarepta Therapeutics will be expanding its partnership to continue assisting clinicians in identifying patients with Duchenne muscular dystrophy (DMD).

The U.S. FDA has granted Fast Track designation to PaxVax for development of its vaccine for prevention of the chkungunya virus.

FDA approves dual drug treatment, dabrafenib (Tafinlar) and trametinib (Mekinist), for Anaplastic Thyroid Cancer (ATC).

Rare Disease Report sat down with Brian Wamhoff, PhD, Head of Innovation at HemoShear Therapeutics, to discuss what the company is doing throughout the rare disease community and why it could have such an incredible impact in the near future.

Alan S. Brown, MD, FNLA, FACC, FAHA is a Cardiologist at Advocate Lutheran General Hospital and the President-Elect of the National Lipid Association (NLA). While at the NLA’s 2018 Scientific Sessions in Las Vegas, Nevada, he explained the connection between hypertriglyceridemia and FCS.

According to new researche, a widely-used cholesterol-lowering drug increased a precursor of high-density lipoprotein (HDL) in models that mimicked liver cells of patients with Friedrich’s ataxia (FA).

Alan S. Brown, MD, FNLA, FACC, FAHA, reviews emerging treatments and research for familial chylomicronemia syndrome (FCS).

The U.S. FDA has approved coagulation factor Xa (recombinant), inactivated-zhzo (Andexxa) for patients treated with rivaoxaban and apixaban, when reversal of anticoagulation is necessary due to fatal or uncontrolled bleeding.

James J. Maciejko, MS, PhD, FACC, stresses the importance of rare disease awareness among physicians for proper diagnosis and treatment.

Dosing of the first patient in the Phase 2 clinical trial of AG10 in patients with ATTR cardiomyopathy, Eidos Therapeutics, Inc. has announced.

This past year, James A. Underberg, MD, MS, FACPM, FACP, FASPC, FNLA, President of the National Lipid Association (NLA), outlines familial chylomicronemia syndrome (FCS) and the need for treatments, which may not be far.

On Monday, the FDA approved tisagenlecleucel (Kymriah) for the treatment of adult patients with relapsed or refractory diffuse large B-cell lymphoma who have relapsed or are ineligible for an autologous stem cell transplant (ASCT).

Orchard Therapeutics announced that its gene therapy candidate, OTL-200, has been granted Rare Pediatric Disease designation for the treatment of metachromatic leukodystrophy.

At the National Lipid Association's (NLA) 2018 Scientific Sessions in LAs Vegas, NV, Wahida Karmally, MS, RD, CDE, explains the importance of nutrition and support in patients with familial chylomicronemia syndrome (FCS) and the emotional stress a strict, regimented diet can have on patients.

Akcea Therapeutics announced that it has expanded its global early access program to the US for its drug volanesorsen, which is in development for treatment of the rare lipid disorder FCS.

REGENXBIO Inc. announced that the U.S. FDA has granted Fast Track designation to RGX-131, a novel, one-time investigational treatment for mucopolysaccharidosis type II (MPS II).

A Rare Pediatric Disease designation was granted by the U.S. FDA this morning to Cellectar Biosciences for CLR 131, intended for the treatment of neuroblastoma.

Cytokinetics, Incorporated and The ALS Association continue their partnership in an effort to fight ALS.

Lyso-Gb1 Identified as most efefctive biomarker for Gaucher disease monitoring.

As stated in article published in the clinical journal Neurobiology of Aging, a team of researchers has discovered that elevated levels of certain types of lipids in the brain could be an early presentation of Parkinson’s disease.

This morning, Acceleron Pharma announced that the US FDA has granted Fast Track designation to ACE-083 for the treatment of patients with facioscapulohumeral muscular dystrophy (FSHD).

This morning, it was announced that the U.S. FDA has approved dabrafenib (Tafinlar) in combination with trametinib (Mekinist) for the adjuvant treatment of patients with melanoma with BRAF V600E or V600K mutation.

Clinical and biochemical assessments of LPL FCS and non-LPL FCS genes.

Positive results from the Fostamatinib in Thrombocytopenia (FIT) Phase 3 clinical program of fostamatinib disodium hexahydrate (Tavalisse) were published in the American Journal of Hematology this week.

FCS community highlights clinical presentation and lifestyle.

At the Clinical immunology Society Annual Meeting in Toronto on April 27-28, Prometic presented data from its pivotal Intravenous Immunoglobin (IVIG) Phase 3 clinical trial.