A rare day for rare diseases: Latest data and findings for Rare Disease Day

It’s not too often one sees Feb. 29 on the calendar, which makes it a perfect time for Rare Disease Day, dedicated to recognizing conditions that, in the words of the European Commission on Public Health, require “special combined efforts.”

These diseases may be uncommon — impacting fewer than 200,000 people in the United States — but that makes it all the more important to increase knowledge and drive awareness of them.

In its annual State Report Card, the National Organization for Rare Disorders reported that in 2023, Rare Disease Advisory Councils were formed in more than half of U.S. states. However, policies and proposals potentially limiting access to care resulted in the organization handing “fail” grades to Idaho, Mississippi, Oklahoma, South Dakota, South Carolina and Texas.

There are about 7,000 rare diseases, and 95% of them have no known treatment. To help raise awareness, Healio has put together its latest coverage on rare diseases in the rheumatological world, including myositis, giant cell arteritis, systemic sclerosis and more.

Hispanic patients with systemic sclerosis have higher mortality rate, risk for lupus

Hispanic patients with systemic sclerosis are more likely to have concurrent systemic lupus erythematosus and U1-RNP positivity, and face greater mortality rates vs. non-Hispanic white patients, according to data.

“Reports suggest ethnical disparities among SSc patients, with potential influence on disease outcomes and survival rates,” Bochra Jandali, MD, of the McGovern Medical School at the University of Texas Health Science Center, and colleagues wrote in Arthritis Care & Research. Read more.

‘Access should not be based on skin color’: The need for race-agnostic GCA care

Dismantling the popular misconception that giant cell arteritis only occurs in white individuals is critical to providing timely diagnosis and care to all patients who may have the disease, regardless of race or ethnicity.

In a letter published in The Lancet Rheumatology, Tiara Gill, MD, a consultant rheumatologist at London North West University Hospitals NHS Trust, and colleagues, challenged the myth that GCA does not occur in people of color. They aimed to understand and describe the myriad reasons for this fallacy and supported their argument with a comprehensive literature review. The results disproved the myth. Read more.

More than 40% of patients with systemic sclerosis show signs of myopathy

As many as 43% of patients with systemic sclerosis demonstrate evidence of myopathy, while those with proximal weakness and higher creatine kinase exhibit worse function and survival, according to data.

“We know that a lot of people living with systemic sclerosis, or scleroderma, have muscle problems,” Jessica L. Fairley, MBBS, of the University of Melbourne, in Australia, told Healio. “However, because muscle disease in SSc is heterogeneous, it has been difficult to estimate how often it occurs and the impact on individuals.” Read more.

FDA grants fast track designation for novel myasthenia gravis therapeutic

The FDA has granted fast track designation for KYV-101, an autologous, fully human CD19 chimeric antigen receptor T-cell product candidate, to treat myasthenia gravis.

According to a release from Kyverna Therapeutics Inc., CAR T-cell therapy modifies T cells to recognize and remove B cells in a patient’s body. KYV-101 specifically targets CD19, a protein expressed on the surface of B cells, which is involved in various types of autoimmune diseases. Read more.

‘A great step forward’: The next wave of rheum therapies offers ‘tantalizing’ approaches

In rheumatology, the next generation of new therapies always seems to be just out of reach, or perpetually “only a few years” away. However, several novel, and not-so-novel, approaches are giving hope that the future may finally soon arrive.

Such approaches include the Janus kinase-signal transducer and activator of transcription (JAK/STAT) pathway, as well as agents that target the neonatal fragment crystallizable receptor or blood dendritic cell antigen 2, or stimulate the human programmed cell death protein 1. Read more.

Updated ACR/EULAR APS criteria require positive antiphospholipid antibody test

Updated classification criteria for antiphospholipid syndrome require patients display at least one positive antiphospholipid antibody test within 3 years of a linked disease manifestation, according to new guidance from the ACR and EULAR.

“Since the introduction of the Sapporo criteria, advancements in our understanding of APS include better characterization of aPL-associated nonthrombotic clinical manifestations, identification of the role of traditional thrombosis risk factors in aPL-positive individuals, and risk stratification by aPL profile,” Medha Barbhaiya, MD, of the Hospital for Special Surgery, and colleagues wrote in the Annals of the Rheumatic Diseases. Read more.

Imaging, functional tests can help ‘tease out’ fast vs slow myositis progressors

Imaging and symptom rating scales offer physicians ample opportunity to follow patients with suspected myositis and “tease out” fast vs. slow progressors, noted a speaker at the 2023 Congress of Clinical Rheumatology West.

According to Lisa Christopher-Stine, MD, MPH, director of the Johns Hopkins Myositis Center, the accessibility of ultrasound testing makes the technique a reliable surveillance method for surrogate markers of muscular inflammation. Read more.

‘A plethora of emerging treatments’ coming for idiopathic inflammatory myopathies

Clinical trials exploring intravenous immunoglobulin and Janus kinase inhibition headline a robust pipeline for idiopathic inflammatory myopathies, according to a speaker at the 2023 Congress of Clinical Rheumatology West.

“For the first time, we have a plethora of emerging treatments,” Lisa Christopher-Stine, MD, director of the Johns Hopkins Myositis Center, told attendees. “Boy, have treatments come a long way.” Read more.

References:

Rare Disease Day: Frequently asked questions. https://rarediseases.org/wp-content/uploads/2019/01/RDD-FAQ-2019.pdf. Accessed Feb. 15, 2024.

National Organization for Rare Disorders releases annual State Report Card, revealing trends in rare disease health care coverage. https://rarediseases.org/state-report-card-2024/. Published Feb. 2, 2024. Accessed Feb. 15, 2024.