Rare Disease

A data analysis of real-world data found that the rise of orphan drugs (ODs) in the Republic of Korea has not solved all patient accessibility issues as budget concerns can make it difficult to justify reimbursements.

The incidence of rare cancers is higher in the United States than in Europe, but so is the survival rate, according to a study published in Cancer Medicine.

Researchers created a test to determine which children with Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase (CAD) gene deficiency will benefit from receiving a nutritional supplement previously deemed effective in children with the condition, according to a study published in Genetics in Medicine.

Discontinuation of ruxolitinib was associated with increased morbidity burden and worse outcomes among patients with myelofibrosis.

Trastuzumab deruxtecan, an antibody–drug conjugate (ADC) marketed as Enhertu, has been granted Orphan Drug Designation (ODD) for the treatment of gastric cancer, including gastroesophageal junction cancer.

Ruxolitinib was found to be more cost-effective than the best available therapy (BAT) when the willingness-to-pay threshold for payers was at $150,000 and applied to patients with hydroxyurea resistant/intolerant polycythemia vera (PV) without splenomegaly, according to a new study.

Glucocorticoid-refractory acute graft-versus-host disease (GVHD) develops in approximately 50% of allogeneic stem-cell recipients and is a major cause of death.

A new report on 3 rare cases of patients with myeloproliferative neoplasms who developed T-cell malignancies sheds light on red flags clinicians should look for.

A new large-scale study of patients with myeloproliferative neoplasm finds they are at twice the risk of mortality from respiratory disease.

Although the results have to be confirmed in a larger clinical trial, the researchers hope that the biomarker could be a noninvasive marker of a rare pediatric liver disease.

The FDA Friday approved pemigatinib for adults with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with a fibroblast growth factor receptor 2 (FGFR2) fusion or other rearrangement.

Researchers found that the factors most associated with health related quality of life (HRQOL) in patients with facial palsy are age, bilateral facial palsy, severity of facial palsy, anxiety, and key personality traits, including extraversion and emotional stability.

The FDA released guidance on what sponsors should take into account when trying to demonstrate clinical effectiveness of new treatments in patients with slowly progressive, low-prevalence rare diseases with substrate deposition that result from single enzyme defects.

Prakash Bhuyan, MD, PhD, vice president of clinical development at Inovio, discusses the company's vaccine trial for coronavirus disease 2019 (COVID-19) as well as its DNA medicine platform for rare genital cancers.

Cushing syndrome, a rare endocrine disorder caused by abnormally excessive amounts of the hormone cortisol, has a new pharmaceutical treatment to treat cortisol overproduction.

Disparities in funding exist between sickle cell disease (SCD) and cystic fibrosis, according to a study published in JAMA Network Open. For SCD, the disparities may be associated with decreased research productivity and novel drug development.

Yoga may be used as a safe intervention for pulmonary rehabilitation in patients with lymphangioleiomyomatosis (LAM), according to a study published in the Orphanet Journal of Rare Diseases. The exercise could also potentially improve patients’ exercise capacity.

The severity of oro-dental anomalies in patients with Loeys-Dietz syndrome segregates by gene mutations, according to a study published in the Journal of Medical Genetics.

Researchers aimed to describe the management and outcomes of calcific uremic arteriolopathy, or calciphylaxis, in patients with chronic kidney disease (CKD), according to a study published in BMC Nephrology.

Federal incentives fail to spur development of new drugs to treat rare diseases; alcohol-related deaths have risen steadily over the past several years; will CMS stop auto-enrolling low-income individuals in exchange health plans?

Researchers determined that patients with Wolfram syndrome have impaired smell identification abilities and blunted perceptions of certain taste stimuli, according to a study published in the Orphanet Journal of Rare Diseases.

The Rare Genomics Institute, a nonprofit patient advocacy group, announced it will launch its new RareWear program, marking 2020’s International Rare Disease Day. The program works with patients who have rare diseases to connect them with medical device providers specializing in technology for monitoring and managing conditions. Once matched, patients will receive a device for free from medical device technology providers Bodimetrics, Biotricity, or Strados Labs.

When we looked at the pre-treatment creatinine data, we found that African Americans were more likely to have abnormal results and white patients were more likely to have normal results–these differences were statistically significant, said Abby Statler, PhD, MPH, MA, research associate at Cleveland Clinic.

Our outcomes suggest that eligibility criteria for patients with MDS relevant to liver function, renal function, and comorbidities may be relaxed, especially for those who have minor renal function abnormalities who have shown to have similar clinical outcomes to those without such abnormalities, said Abby Statler, PhD, MPH, MA, research associate at Cleveland Clinic.

Investigators say that inconsistencies in the way rare diseases are defined contribute to misdiagnoses, delayed treatment, and other ills that could be addressed with global standards.