Rare Disease

The only thing that should matter in these patients is their genetic code, but often it’s your zip code that really restrains your ability to access the healthcare you deserve, explained Ahmar Zaidi, MD, pediatric hematologist-oncologist, Comprehensive Sickle Cell Center, Children's Hospital of Michigan, when discussing the possibility of a gene therapy for sickle cell.

As orphan drugs account for an increasing share of drugs approved, they are driving up the cost of drug launches and drug prices. In a new paper, America's Health Insurance Plans analyzes these rising costs and the use of orphan drugs and asserts that policy makers need to revisit the Orphan Drug Act.

The agency has approved nintedanib (Ofev) to slow the rate of pulmonary function decline in adult patients with interstitial lung disease associated with systemic sclerosis or scleroderma.

Neil Minkoff, MD, chief medical officer and vice president, EmpiraMed, discusses his hopes if the first gene therapy for sickle cell disease is approved and if he has any concerns with payer reactions.

An Expanded Treatment Protocol study that provided expanded access of the FDA-approved ruxolitinib, which treats polycythemia vera (PV) in patients who are intolerant or resistant to hydoxyurea, affirmed the safety and efficacy findings of the trials used for approval.

Ahmar Zaidi, MD, pediatric hematologist-oncologist, Comprehensive Sickle Cell Center, Children's Hospital of Michigan, discusses the need for more efforts from both the medical community and regulators to address the psychosocial complications of sickle cell disease.

Other than surgery and medications, including opioids, there are few options for treating pain symptoms, which affect more than half of all patients with neurofibromatosis type 1.

Regeneron released positive phase 3 results for evinacumab, a drug for a rare form of deadly high cholesterol, and said it expects to seek FDA approval in 2020.

In a highly anticipated decision, the FDA on Monday rejected accelerated approval for Sarepta Therapeutics’ second Duchenne drug, handing the drug maker a surprising blow that has some questioning the motivation behind the decision.

Blood clots, or venous thromboembolism, remains a leading causes of death and healthcare spending in patients with cancer.

FDA's approval of entrectinib for neurotrophic tyrosine receptor kinase (NTRK) fusion-positive tumors represents a new paradigm in cancer treatment; It treats a cancer based on a common biomarker seen across different tumors rather than based on the location in the body where the cancer originated. The FDA also gave approval to entrectinib for the treatment of adults with metastatic non–small cell lung cancer whose tumors are ROS1 positive.

The study found that 24% of those who contacted a center specializing in rare kidney diseases would have gone undiagnosed if they had not reached out directly via the center's website.

Daiichi Sankyo has received approval for its treatment for the rare joint tumor.

The National Comprehensive Cancer Network (NCCN) has published a set of recommendations for the treatment of small bowel adenocarcinoma, representing the first treatment guidelines in the United States for the rare type of cancer.

A study of patients with polycythemia vera (PV) showed that the severity of individual symptoms was not affected by blood count control, with the exception of pruritus and night sweats.

President Trump is preparing an executive order that would slash prices on nearly all drugs sold to Medicare; Allergan has recalled certain breast implants following 573 cases of implant-associated anaplastic large cell lymphoma; a study has found 1 in 4 people intend to use antibiotics without a prescription.

Spearheaded by Senate Finance Committee Chairman Chuck Grassley, R-Iowa, and Ranking Member Ron Wyden, D-Oregon, the bipartisan bill would lower out-of-pocket (OOP) costs for Medicare and Medicaid beneficiaries and save the government billions.

The authors said their case highlights how t(15; 17) by itself is never sufficient to diagnose acute promyelocytic leukemia (APL) without confirmation by other methods.

Patients who had end-stage renal disease secondary to amyloidosis had poorer survival rates compared with patients with kidney disease secondary to other causes.

Data from a phase 3 trial are supporting the use of tezacaftor in combination with ivacaftor for the treatment of cystic fibrosis (CF) in children aged 6 to 11 years, finding that the treatment combination was generally safe and well tolerated.

A study comparing the efficacy of burosumab with conventional treatment—oral phosphate and active vitamin D—found that burosumab, which blocks FGF23, was significantly more effective in alleviating symptoms.

A recent study examined the association between patients with secondary myelofibrosis (SMF) and later development of nonhematological second primary malignancies (SPM).

Coverage of our peer-reviewed research and news reporting in the healthcare and mainstream press.

The FDA approved a fourth indication for Alexion Pharmaceuticals’ brand-name eculizumab (Soliris) for the treatment of neuromyelitis optica spectrum disorder (NMOSD) in adult patients who are anti-aquaporin-4 (AQP4) antibody positive.

Paul Melmeyer, director of Federal Policy, National Organization for Rare Disorders, discusses factors that have historically been underrepresented in value assessment frameworks for rare disease therapies.