Rare Disease Report®

New data demonstrates that onasemnogene abeparvovec is an effective treatment option for symptomatic and presymptomatic patients with spinal muscular atrophy (SMA).

“We have now seen consistently across the program the potential to quite meaningfully reduce Phe levels in patients with PKU," lead investigator Dr. Jerry Vockley says in a statement.

While this population was previously thought to be unaffected, studies within the last few years have shown that women with hemophilia experience joint and bleeding problems.

After a year of treatment with once-weekly antihemophilic factor (recombinant), Fc-VWF-XTEN Fusion Protein-ehtl, results show patient pain was significantly reduced and quality of life significantly increased.

Findings from the study emphasize the importance of disseminating knowledge and education to reduce disease burden after examining healthcare students' knowledge and attitudes towards sickle cell trait (SCT) screening in Ghana.

Treatment with trofinetide (DAYBUE) demonstrated statistically significant improvement in the phase 3 LAVENDER study evaluating the drug's safety and efficacy.

Results of a recent study showed that the risk of pneumocystis jiroveci pneumonia (PJP) is low in patients with giant cell arteritis (GCA) and polymyalgia rheumatica (PMR), therefore discouraging the routine prescribing of PJP prophylaxis for this patient population.

Medicaid enrollees with sickle cell disease have limited access to clinical trials and out-of-state benefits. Barriers to treatment are multifaceted and occur at different levels of care.

Dr. Margaret Ragni discusses the FDA approved, first-in-class, factor VIII replacement therapy, antihemophilic factor (Recombinant), Fc-VWF-XTEN Fusion Protein-ehtl, previously known as efanesoctocog alfa.

Approximately 42% of prodrome-associated DEGs were also associated with hereditary angioedema attacks, indicating that multiple enriched gene networks with common hub genes and upstream regulators are shared between the prodromal and acute attack stages.

The approval for omaveloxolone was supported by open-label data showing benefit of care for up to 3 years.

Nipocalimab, a FcRn blocker, significantly improved symptoms and reduced immunoglobulin autoantibody levels in patients with myasthenia gravis.

There were no differences found in the total thickness of other esophageal regions, dysphagia score, endoscopic appearance, and eosinophil count over time.

Individuals with comorbid asthma, allergic rhinitis, and oral allergy syndrome had higher rates of eosinophilic esophagitis.

In a presentation at the AAAAI 2023 Annual Meeting, new data suggested that treating early symptoms may be a viable strategy for preventing acute attacks in patients with hereditary angioedema (HAE).

Previously known as efanesoctocog alfa, once-weekly ALTUVIIIO™ is indicated for routine prophylaxis and on-demand treatment to control bleeding episodes for adults and children with hemophilia A.

Phase 2 trial shows iron hydroxide adipate tartrate (IHAT) is non-inferior to ferrous sulfate (FeSO4) in correcting iron deficiency and hemoglobin response, with a lower incidence of moderate-severe diarrhea.

Velmanase alfa-tycv (Lamzede) is approved as the first and only enzyme replacement therapy for non-central nervous system manifestations of alpha-mannosidosis, an extremely rare, progressive, lysosomal storage disorder.

Once-weekly efanesoctocog alfa is a safe and effective treatment for patients with severe hemophilia A, providing better outcomes than current treatment options by significantly reducing bleeding rates and improving physical health, pain, and joint health.

New data show the FDA's rationale for approving drugs with unmet efficacy end points in pivotal trials has been inconsistent since at least 2018.

Dr. Matthew Lander explains that the number of cardiac sarcoidosis cases might be lower than other forms of sarcoidosis, but the outcomes are more severe.

According to older literature, most cases of sarcoidosis involve the lungs, but Dr. Matthew Lander explains why there could be more to the rare disease.

PET scanning, in particular, has provided advancement in the diagnosis process, which has offered a new perspective on cardiac sarcoidosis for clinicians.

According to the results, 42.8% of participants failed to agree that relevant legislature is in place for the sickle cell disease population, as it doesn't facilitate optimal access to high-quality healthcare.

The treatment is a novel, investigational anti-C5 recycling monoclonal antibody showing promise for treating patients with paroxysmal nocturnal hemoglobinuria.

The rare condition can lead to life-threatening anemia in the fetus and currently lacks FDA-approved treatments.

The Sickle Cell Trait Awareness Campaign (STAC) offers promising possibilities of expanding sickle cell trait education across the country, Dr. Carolyn Rowley and Pat Corley, RN explain.

The sBLA for lanadelumab permits its use as a prophylaxis in children as young as 2 years old with the rare condition.

Individuals with sickle cell trait not only need to know their status to make informed family planning decisions, but also so they can watch out for the possible symptoms.

The mRNA vaccines BNT162b2 (Pfizer-BioNTech) and mRNA-1273 (Moderna) showed no risk of Guillain-Barré syndrome post-vaccination.