Rare Disease

The authors backed plans for the United Kingdom to establish a national diagnostic program based on whole genome sequencing (WGS) to speed the time to diagnosis.

A new analysis suggests physicians should be on the lookout for cardiovascular disease and other types of cancer, in addition to acute myeloid lymphom, when caring for patients with certain myeloproliferative neoplasms (MPNs).

A new review article highlights some of the newest therapies available to treat graft-versus-host disease (GVHD), but the authors say there is insufficient data to draw broad conclusions.

Angelman syndrome affects roughly 1 in every 20,000 children and it has no approved treatment.

Health care costs are 3 to 5 times greater for people with rare diseases compared with those without, according to a new study.

The product, called Rethymic, is composed of human allogeneic thymus tissue that is processed and cultured and then implanted into children born without a thymus to help reconstitute immunity.

Research presented at EHA2021 shows that the JAK 1/2 inhibitor ruxolitinib produced cost-effective benefits per quality-adjusted life-year and increased the overall survival rate for patients with myelofibrosis.

Despite excellent prognoses in low-risk patients with essential thrombocytopenia (ET) and polycythemia vera (PV), knowledge gaps remain and novel, more tolerable therapies require reevaluation of treatment algorithms.

This new analysis of 5-year data on a novel gene therapy from PTC Therapeutics shows both cognitive and motor function improvement in children with aromatic L-amino acid decarboxylase (AADC) deficiency, a rare central nervous system disorder.

Immune-mediated necrotizing myopathy typically presents with progressive symmetrical proximal muscle weakness and myalgias, although some cases can present with respiratory and esophageal muscle weakness, as seen in this reported case study.

Chronic graft-vs-host disease (GVHD) is a condition that can occur after an allogeneic stem cell transplant in which the donated cells initiate an immune response and attack the transplant recipient’s organs.

The study of 36 patients showed a response rate of 59% at 3 months, which increased to 62% at 6 months.

The data offer novel insights, as comparable data on the drug class is scarce despite 2 JAK inhibitors being approved for use in myelofibrosis and others showing promise.

Complications of note in patients with myeloproliferative neoplasm (MPNs) include ischemic stroke, intracerebral and subarachnoid hemorrhage, microbleeds, posterior reversible encephalopathy syndrome, and dural sinus and cerebral vein thrombosis.

From the decision analysis came an agreement that reimbursement for an orphan drug should be based primarily on its effect on health-related quality of life, its effectiveness, and the availability of other treatment options.

Crigler-Najjar Syndrome Type 1 is an ultra-rare disease where treatment relies on a liver transplant or full-day phototherapy sessions.

Gaucher disease is a rare metabolic condition that causes a fatty substance to build up in the organs and bones. Patients can suffer liver enlargement, anemia, and reduced platelets; they experience fatigue, bone infarctions, and permanent disability or death.

Most studies to date that show efficacy with ruxolitinib in this setting have been in adult patients.

The European-based survey collected information from over 900 patients and caregivers from 25 countries; the responses show a need for both local and national governments to scale up their services for patients with rare metabolic diseases, which also have a positive spillover effects for caregivers.

For pediatric patients with T-cell origin lymphoblastic leukemia (T-LBL) with disease progression following second-line treatment, investigators found that the JAK1/2 pathway may be a new actionable target through treatment with ruxolitinib.

Few cases have documented how myeloproliferative neoplasms, such as polycythemia vera, progress to pure erythroid leukemia, with just 5 such cases reported between 1952 and 1962.

The combination delayed disease progression for a year and a half, suggesting the treatments may be a viable option for patients not eligible for allogeneic stem cell transplantation.

Survey results underscore parents’ frustration with insurers when it comes to caring for their children with rare diseases.

FDA approves avalglucosidase alfa-ngpt (Nexviazyme) for the treatment of patients 1 year and older with late-onset Pompe disease.

According to researchers, the prevalence of progressive supranuclear palsy (PSP) identified by their study is consistent with, but on the lower end, of previously reported estimates.