RDR Alert®

William A Gahl, MD, PhD, discusses challenges associated with diagnosing rare diseases and how health care providers might overcome them.

Investigators in the United Kingdom have found that a simple blood test reveals the earliest signs of Huntington’s disease, and may help scientists working on developing new therapeutics for the genetic disease.

Palynziq is specifically intended for use by patients with PKU over the age of 18 who have blood Phe levels at or above 600 μmol/L while following their current therapies.

Novartis files new indication for ranibizumab (Lucentis) for the treatment of retinopathy of prematurity.

The central aims of the study are to better prepare for clinical trials by defining the best outcome measures for assessing how effective prospective therapies in dysferlinopathy are and to gain a stronger understanding of disease progression.

A new paper details a newly identified and yet-unnamed skeletal disorder with radiographic similarities to—but also unique distinctions from—an extremely rare condition called Jansen metaphyseal chondrodysplasia.

New study serves as a reminder of how little is known about the clinical and biological manifestations of this form of Huntington's disease.

The FDA has approved inotersen (TEGSEDI) for the treatment of adults with the polyneuropathy of hereditary transthyretin-mediated amyloidosis.

The FDA has approved elapegademase-lvlr injection (Revcovi) for the treatment of adenosine deaminase severe combined immune deficiency (ADA-SCID) in pediatric and adult patients.

The FDA has granted an orphan drug designation to MediciNova Inc.’s MN-166, an adjunctive therapy to temozolomide treatment for patients with glioblastoma.

The FDA has granted an orphan drug designation to Eidos Therapeutics, Inc.’s investigational treatment, AG10, for the treatment of transthyretin amyloidosis.

The FDA has approved emicizumab (Hemilbra) for the treatment of hemophilia A without factor VIII inhibitors.

Positive interim clinical data from Genentech’s 2-part pivotal FIREFISH and SUNFISH trials evaluating risdiplam (RG7916), a potential spinal muscular atrophy (SMA) treatment, have been released.

Results from the interim analysis of the ENVISION phase 3 trial shows that givosiran treatment was associated with a statistically significant reduction in urinarly ALA levels in patients with acute intermittent porphyria.

The FDA has approved amikacin liposome inhalation suspension (Arikayce) for the treatment of lung disease caused by Mycobacterium avium complex (MAC) in a limited population of patients with the disease who do not respond to conventional treatment (refractory disease).

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

In a recent interview with Rare Disease Report®, Hartmann Wellhoefer, MD, discussed the biggest challenges faced and advances being made in the fight against MPS.

Robert J. Kreitman, MD, discusses the FDA’s recent approval of moxetumomab pasudotox (Lumoxiti) for the treatment of hairy cell leukemia (HCL).

The FDA has granted an orphan drug designation to Q Therapeutics Inc.’s Q-Cell for the treatment of transverse myelitis.

The FDA has granted an orphan drug designation to Portola Pharmaceuticals’ investigational oral Syk/JAK inhibitor, cerdulatinib, for the treatment of peripheral T cell lymphoma.

The US FDA has granted an orphan drug designation to Cellectar Biosciences, Inc.’s CLR 131 for the treatment of pediatric osteosarcoma.

The FDA has granted an orphan drug designation to Myelo Therapeutics GmbH’s Myelo001 for the treatment of acute radiation syndrome.

The FDA has approved duvelisib for the treatment of adult patients with relapsed or refractory chronic lymphocytic leukemia or small lymphocytic lymphoma after at least 2 prior therapies and adult patients with relapsed or refractory follicular lymphoma after at least 2 prior systemic therapies.

Investigators have found that the higher the symptom burden, the greater the detrimental impact on work productivity and daily activity for patients with myeloproliferative neoplasms.

Tumor regressions were observed in 2 of the first 4 evaluable patients in the ongoing phase 2 trial evaluating DPX-Survivac in combination with low dose cyclophosphamide and pembrolizumab.