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Top 5 Most-Read Rare Disease Articles of 2022
The most-read rare disease articles of the year included the topics of new pediatric central nervous system tumor guidelines, graft versus host disease, the contribution of gene variants to pediatric neuropsychiatric conditions, and hope for patients with blast-phase chronic myeloid leukemia.
The top 5 most-read articles about rare diseases on AJMC.com this year explored new findings such as updated pediatric central nervous system (CNS) tumor guidelines, the role of gene variation in pediatric neuropsychiatric conditions, and the potential for longer survival for those with blast-phase chronic myeloid leukemia (BP-CML).
Here are the most-read rare disease articles of 2022.
5. NCCN Publishes Guidelines for Deadly Pediatric CNS Tumors
The World Health Organization recommended CNS tumor classification to include a treatment protocol for pediatric patients with CNS tumors. The National Comprehensive Cancer Network (NCCN) proposed a structure in which histologic, immunohistochemical, and molecular examination methods will be used because underlying molecular alterations in pediatric cases are different than those in adult cases. In children, these tumors contribute to the largest cancer-related fatality rate.
4. GVHD May Mimic Eosinophilic GI Disorders Following Bone Marrow Transplant
A 12-year-old male patient with graft versus host disease (GVHD) was originally thought to have eosinophilic gastroenteritis after a bone marrow transplant (BMT) at 5 years old. GVHD was discovered to possibly mimic eosinophilic gastrointestinal disorders after BMT. The symptoms the patient experienced were nonspecific, which made the root cause difficult to determine.
3. Risk of Pediatric Neuropsychiatric Conditions Linked to Rare Genomic Variants, Intellectual Disability
Genomic variants connected to intellectual disability can be identified with next-generation sequencing. A national cohort study completed in the United Kingdom demonstrated that children with intellectual disabilities can develop other neurodevelopmental or mental health conditions. Early genetic testing can catch these conditions and provide an earlier treatment intervention.
2. Vitamin D May Affect GVHD Rates in Stem Cell Transplantation, Review Finds
Vitamin D showed some evidence as a low-risk prophylactic for GVHD in patients undergoing allogeneic hematopoietic stem cell transplantation. Patients undergoing stem cell transplantation in particular seemed to be susceptible to vitamin D deficiency, and studies were conducted to see if increasing vitamin D levels ideally affected GVHD rates. Results were mixed, but it is possible for vitamin D to decrease chronic GVHD risk, the researchers concluded.
1. Ponatinib, High-Dose Chemo Combo Likely to Benefit High-risk BP-CML
Usually with a less than 1 year survival rate, there is a demonstrable need for effective treatments for patients with blast-phase chronic myeloid leukemia (BP-CML). A new combination treatment can help these patients go into remission and survive long term. The findings were presented at the 2021 American Society of Hematology Annual Meeting & Exposition. The tyrosine kinase inhibitor ponatinib in combination with high-dose chemotherapy holds the promise of a longer survival rate.
NCCN Guidelines Update Adds Momelotinib Below Ruxolitinib for High-, Low-Risk Myelofibrosis
January 23rd 2024Momelotinib was given category 2A and 2B status for patients with high- and low-risk myelofibrosis (MF) and MF with anemia. However, ruxolitinib retains a higher category of recommendation as a treatment for patients with MF.
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Oncology Onward: A Conversation With Dr Shereef Elnahal, Under Secretary for Health
April 20th 2023Shereef Elnahal, MD, MBA, under secretary for health at the Veterans Health Administration (VHA), sat for a conversation with our hosts Emeline Aviki, MD, MBA, Memorial Sloan Kettering Cancer Center, and Stephen Schleicher, MD, MBA, Tennessee Oncology, that covered the cancer footprint of the VHA.
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Interventions Needed to Increase DMT Uptake in Sickle Cell Disease
December 26th 2023A recent study found that uptake of disease-modifying therapies (DMTs) has been low among patients with sickle cell disease, suggesting that more interventions that consider individual patient characteristics are needed to improve adoption.
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Exploring Payer Coverage Decisions Following FDA Novel Drug Approvals
May 3rd 2022On this episode of Managed Care Cast, Ari D. Panzer, BS, lead author and researcher, then at Tufts Medical Center—now at Duke University—discusses the findings from his team’s investigation into coverage decisions by health plan insurers of the 66 drugs approved by the FDA in 2018.
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Exagamglogene Autotemcel Meets End Points in Severe Sickle Cell Disease, β-Thalassemia
December 7th 2023Two posters set to be presented at the 65th American Society of Hematology Annual Meeting & Exposition met their primary and secondary end points regarding exagamglogene autotemcel therapy for sickle cell disease and β-thalassemia.
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