Rare Disease Report®

Investigators noted that the epidemiology and disease overlap among eosinophilic diseases are poorly understood.

The president of Make-A-Wish New Jersey speaks about the impact of granting a wish to a child living with a rare disease.

The Rare Disease Report Podcast returns! Our first episode features Karen Kozarsky, PhD, an expert on gene therapy and adrenomyelonueropathy.

Why is Rare Disease Day so important? Hear the answers from some of the most qualified professionals in rare disease fields.

To date, dupilumab is the only biologic medicine to show positive, clinically meaningful phase 3 results in adults and adolescents with EoE.

Data supporting BI 1015550 as a IPF therapy will be presented at the upcoming ATS meeting.

Rare disease pyruvate kinase deficiency received first approved disease-modifying therapy.

Progressive familial intrahepatic cholestasis is a genetic liver disease that doesn't only affect the children who are diagnosed, but also the caregivers responsible for them.

Investigators developed a new method to identify potential treatments for hundreds of diseases by profiling drugs approved by the FDA.

The renowned expert joins to discuss the clinical characteristics, societal burdens, and promising therapy research surrounding the hematologic disease.

The monoclonal antibody is designed to reduce the need for red blood cell transfusions to hemolysis among adults with the rare disease.

Pfizer’s statement does not include a reason for the Complete Response Letter the FDA issued regarding the Biologics License Application for somatrogon for Pediatric Growth Hormone Deficiency.

The Carter Center announces that just 14 cases of Guinea worm disease occurred worldwide in 2021--the lowest case total ever recorded.

A gene therapy for retinal degenerative diseases receives an investigational new drug (IND) clearance from the FDA to move forward with the Phase 2 trial of the multi-characteristic opsin (MCO-010) therapy.

In the midst of a national blood crisis, the FDA is funding a study to examine if different questioning can be used to determine the HIV risk of gay or bisexual men who want to donate blood.

Since an effective treatment for the rare disease metachromatic leukodystrophy had not previously been distinguished, investigators analyzed data on the safety and efficacy of arsa-cel, a gene therapy.

The therapeutic met all secondary endpoints measured at 18 months in patients with hATTR amyloidosis with polyneuropathy, which included statistically significant improvements in neuropathy, and quality of life.

While Omicron cases surge, Valentina, Baez-Sosa, MD, speaks on the national blood shortage and the risk it poses to patients with sickle cell disease in particular.

Maureen Achebe goes into detail about the open label extension of the HOPE trial that evaluated to use of Voxelotor in patients with sickle cell disease and anemia.

As the year begins, Edward Ivy addresses what's currently happening in the field of sickle cell disease from the impact of the blood shortage to exciting new therapies.

Alloimmunization is more prevalent among patients with sickle cell disease than previous literature states. Baez-Sosa discusses her study and treatment practices.

After conducting and extensive literary review on all eligible data regarding COVID-19 in patients with sickle cell disease or trait, experts discuss what is known and what needs to be better understood about the pandemic's effect on this population.

Investigators conducted an extensive literature review on clinical COVID-19 outcomes in patients with SCD or SCT to better navigate treatment during the pandemic.

Regina Hartfield is the new CEO and president of the Sickle Cell Association of America. Listen to our interview with her to find out what's in store for 2022.

Baez-Sosa explains why further investigation of alloimmunization in patients with sickle cell disease is crucial.

Exciting new therapies for sickle cell disease are on the horizon. We explored some of the most promising investigational therapies in recognition of National Blood Donor Month.

Beach shares about Haywood's life, research, and impact on the sickle cell disease community after working alongside him at Johns Hopkins School of Medicine.

Achebe explains the promising results of the open label extension to the HOPE trial for patients with sickle cell disease.

Phase 3 trial examines if adjusting the dose of hydroxyurea reduces the risk of stroke in children with sickle cell anemia.

Accurate results can be obtained rapidly with this intuitive whole blood hemostasis system, allowing for efficient workflow at the point of care.