RDR Alert®

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.

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.

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.

Investigators found that when assessing patients with sickle cell disease and neuropathic pain the TRPV1 receptor is a crucial component in the development of hypersensitivity and potential therapeutic benefit of capsaicin.

A 19 year-old patient presented with an isolated non-traumatic spontaneous epidural hematoma (EDH), an extremely rare consequence of sickle cell disease.

Dr. Patrick Flume encourages clinicians to think a little differently when presented with a patient who has a chronic cough without an identifiable cause.

The phase 3 data presented at the ISTH 2022 Annual Congress show an 86% reduction of treated bleeds in patients with hemophilia A or B with inhibitors.

Bronchiectasis varies in presentation and appears to affect individuals from broad areas of the country. According to Dr. Patrick Flume, the task is to figure out what the best method of management is.

New phase 3 data indicates significant improvements in disease severity in children 1-11 years old with eosinophilic esophagitis.

A significant factor in treating sickle cell disease is the practice of shared decision-making, which gives the provider and patient a collaborative approach to disease management, according to Dr. Titilope Fasipe.

Weekly 300 mg doses of dupilumab were associated with significant, clinically meaningful improvements by week 24 in patients with eosinophilic esophagitis

Travis Vandergriff, MD, discusses the unique collaboration with ophthalmologists and urologists in the rare skin condition.

According to the results, individuals with SCT who previously had COVID-19 also had various preexisting kidney conditions that were associated with poor outcomes.

A dive into the manifestation of the rare skin condition, and the impactful role of dermatologists in diagnosing it early.