Rare Disease Report®

Investigators address the need for understanding surrounding the relationship between poor bone health and patients who are hemophilia carriers and those with von Willebrand disease.

A new study evaluates the prognostic potential of exercise testing for patients with sickle cell disease.

Positive preliminary biomarker data were reported from the first cohort in the phase 1 portion of the trial.

A study highlights methods to define hydroxyurea exposure as means of understanding hematologic benefit derived from the first-line drug for children.

Barriers to sickle cell disease care are identified across multiple levels including individual, family, provider, and socio-environmental levels according to patient perspectives.

In an interview, Karen Kozarsky, CSO of SwanBio discusses the new data being presented at AAN on AAV-based gene therapy candidate SBT101.

At the AAN 2022 Annual Meeting, SwanBio presents new data regarding lead candidate SBT101 for treating adrenomyeloneuropathy, a rare debilitating disease with no approved therapies.

Dupilumab is the only biologic medicine to show positive, clinically meaningful phase 3 results in adults and adolescents 12 years and older with EoE.

The NaV1.8 inhibitor VX-548 shows promising potential as a non-opioid acute pain treatment.

Bristol Myers Squibb has to wait 3 months for FDA decision on Reblozyl for treating non-transfusion-dependent β-thalassemia.

Expert John Sergent shares insight on his best practices treating patients with autoimmune diseases.

In honor of Autoimmune Disease Awareness Month, expert Dr. Joe Ahearn and advocate Michael Linn discuss relapsing polychondritis.

Interstitial lung disease expert explains the importance of educating patients with autoimmune disease.

The Director of Policy and Advocacy for the US Pain Foundation addresses the important changes made to the updated draft of the CDC Clinical Practical Guideline for Prescribing Opioids 2022.

Patients with Fabry disease who received treatment with PRX-102 every 4 weeks displayed a stable condition at the end of the trial.

Rhythm Pharmaceuticals shares data from long-term extension study of setmelanotide in Bardet-Biedl Syndrome.

ACR partners with the Vasculitis Foundation to establish a new guideline that addresses diagnostic issues relating to Kawasaki disease, a rare vasculitis that inflames the blood vessels.

Novartis announces promising results from research evaluating the safety and efficacy of Zolgensma.

More studies need to be done examining the associations of increased weight and outcomes among patients with cystic fibrosis.

The clinical trial of efanesoctocog alfa provided positive top-line results for treating patients with severe Hemophilia

Sarcoidosis expert shares that one of her early patients had the rare disease and it was this young African American woman who inspired her to focus on treating the condition.

Investigators use an indirect approach to estimate the mortality rate of children with sickle cell anemia in sub-Saharan Africa because there's no systematic screening at birth.

In an interview, lead investigator and expert Dr. Martin Kolb discusses his new phase 2b HZN-825 trial and what it's like treating the rare disease.

Dr. Obi speaks of the disparities associated with the disease, the challenges patients face, and how sarcoidosis – the “great mimicker” as some clinicians have described it- can be differentiated from other diseases.

Clinical results show that 98% of patients with relapsed or refractory multiple myeloma responded to cilta-cel after a single treatment.

The FDA granted accelerated approval to the treatment of adults with intermediate or high-risk primary or second myelofibrosis.

Expert Mikkael Sekeres, MD, explains that the COVID-19 pandemic affected all of medicine, but in a rare disease domain that impact was even greater.

Clinical and industry leaders share their perspectives on the importance of collaboration in developing treatments for rare diseases.

Expert John Sergent, MD, goes into detail about myositis and how to differentiate it from other inflammatory diseases.