Rare 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.

A systematic review and meta-analysis of 10 studies to evaluate the efficacy and safety of pharmacological treatments for lymphangioleiomyomatosis yielded mixed results, according to the findings published in Respiratory Research.

Biomedical engineers at Duke University constructed an advanced disease model for blood vessels prompting insights into Hutchinson-Gilford progeria syndrome, according to a study published in Stem Cell Reports.

Scientists say they know which isoform of a key protein is most likely to lead to a rare type of muscular dystrophy.

Cancer cells present in skin lesions resulting from mycosis fungoides originate from the blood, disproving previously held hypotheses regarding the disease’s pathogenesis, according to a study published in the American Society of Hematology’s Blood.

The case study involved a 61-year-old obese Caucasian male with a medical history of smoking, hypertension, chronic obstructive pulmonary disease, and sleep apnea who initially presented to the hematology clinic with polycythemia.

Ipsen, a French pharmaceutical company based in Paris, announced it has paused studies conducted on a drug used to treat Fibrodysplasia ossificans progressive (FOP).

Researchers recently discovered a sensitive and specific biomarker that may enable early diagnosis, treatment, and public awareness of spotted fever rickettsial infections, including Mediterranean spotted fever (MSF), according to a study published in the American Journal of Pathology.

Patients with myelofibrosis can see their quality of life impacted in a range of ways with various symptoms, said Ruben Mesa, MD, director of UT Health San Antonio MD Anderson Cancer Center.

A study published in JCI Insight determined miR-543, an RNA gene, plays a significant role in the epigenetic landscape of myelofibrosis, specifically via its targeting of the dioxygenases ten-eleven translocation 1 and 2.

Despite challenges of rare disease drug development, genetic skeletal disorder (GSD) therapies continue to be developed through novel approaches such as drug repurposing and in-utero stem cell transplants, according to a recent review.

A study investigating the clinical phenotype of acute graft-versus-host disease (GVHD) in children reveals that one-third of pediatric patients with the disease are not successfully treated with steroids as a primary GVHD therapy.

This week, the FDA’s Center for Drug Evaluation and Research (CDER) released its annual report, Advancing Health Through Innovation: New Drug Therapy Approvals, outlining new drugs approved or marketed in America for the first time.

In the first clinical trial of its kind, Danish researchers investigated the efficacy of a combination treatment of ruxolitinib and low-dose pegylated interferon-α2 (PEG-INF α2) in patients with polycythemia vera and myelofibrosis, according to a study published in Haematologica.

Quality of life is an important end point in clinical trials, and it is important to discuss that with regulatory agencies, said Ruben Mesa, MD, director of UT Health San Antonio MD Anderson Cancer Center.