RDR Alert®

A draft report released from the Institute for Clinical and Economic Review (ICER) compared the benefits of etranacogene dezaparvovec (EtranaDez) and valoctocogene roxaparvovec (val-rox) to current treatments.

Cases and hospitalizations due to EV-D68, a rare form of enterovirus associated with acute flaccid myelitis (AFM), have been increasing among children across the country.

Acadia Pharmaceuticals announced that the FDA granted a priority review for trofinetide and set March 12, 2023 as the PDUFA date.

The FDA accepted the Biologics License Application (BLA) and granted priority review for velmanase alfa, an investigational enzyme replacement therapy intended to treat the ultra rare disease.

Novel insights into the risk-benefit profile of nintedanib in children and adolescents with fibrosing interstitial lung disease (ILD) were provided by late-breaking data presented at ERS 2022 regarding the InPedILD clinical trial.

In the second portion of the Rare Disease Report: CDKL5 podcast, Elia Pestana Knight, MD, a pediatric epileptologist shares her clinical expertise on CDKL5 deficiency disorder (CDD).

A novel biomarker was identified for posterior uveitis that postulates previously undetected sources of green and red emission fluorescent components (GEFC/REFC).

According to new research, stroke occurrence trends coinciding with tuberculous meningitis (TBM) are suggested to have regional characteristics.

Olipudase alfa (Xenpozyme) was developed by Sanofi to treat symptoms unrelated to the central nervous system in pediatric and adult patients with the life-threatening condition.

The FDA granted priority review for the Bioloigics License Application (BLA) Sanofi submitted for efanesoctocog alfa indicated for individuals with hemophilia A with a decision date set for February 28, 2023.

In the first episode of a 2-part Rare Disease Report, Whitney Mitchell, mother and caregiver to her 5 year old daughter Havilah, shared her experience leading up to, and now living with, Havilah’s CDKL5 deficiency disorder diagnosis.

Pemigatinib (Pemazyre) becomes the first and only targeted treatment for adults with extremely rare and aggressive blood cancer.

Severity of disease in patients with PAH coincided with cfDNA concentrations according to an NIH study with data from 2 independent cohorts.

New research supports the inclusion of sleep disturbance in clinical evaluation and management in the treatment of Phelan-McDermid Syndrome (PMS) due to the drastic impact it can have on the quality of life for patients and their families.

Whole genome sequencing suggests both common and rare variants contribute to early onset drusen maculopathy.

The investigational treatment SYNB1353 received FDA Fast Track Designation for homocystinuria (HCU), a rare metabolic disorder.

“The approval of ZYNTEGLO marks a watershed moment for the field of gene therapy," Andrew Obenshain, CEO of Bluebird Bio says.

Data from this phase 2 study revealed that the efficacy and safety results support the continued investigation of mitapivat as treatment for adults with either α- or β-thalassemia who are not dependent on transfusions.

A high calorie, high fat diet is needed for patients with cystic fibrosis (CF) to maintain a normal weight resulting in an emphasized focus on their nutrition and weight management.

The implementation of 13-valent pneumococcal conjugate vaccine (PCV13) was associated with an important reduction in the incidence of acute chest syndrome in children with sickle cell disease.

Latest monkeypox updates from CDC and WHO.

In October, a new ICD-10-CM diagnosis code will be activated for APDS, a rare primary immunodeficiency disease, which will enable physicians and payers to add the diagnosis to patient charts for the first time in the US.

Prior to the launch of FSR's webinar on pulmonary sarcoidosis, Mary McGowan, CEO, discusses the private listening session held with the FDA that addressed the critical needs in the field.

There’s still much to be understood about gene therapy and its application to rare diseases like sickle cell, but at the progressive pace it’s moving at, gene therapy is likely to be integrated further into standard practice.

The American College of Physicians (ACP) aimed to inform on the ethical decision making regarding the integration of precision medicine and genetic testing into clinical care.