Rare Disease

Recent study results reveal the importance of the role of astrocytes in the brain due to the exchange between astrocytes and neurons that is disturbed during Huntington disease, a fatal neurodegenerative disease characterized by loss of voluntary motor control, psychiatric disturbances, and cognitive decline.

Homozygous familial hypercholesterolemia is a rare genetic condition that is often characterized by an increased risk of premature cardiovascular (CV) events and cardiac death. Lomitapide decreases low-density lipoprotein cholesterol (LDL-C) levels, but there is little research of the effects on LDL-C goals and CV events.

Results of a Phase 1/2a gene therapy clinical trial in children with Duchenne muscular dystrophy (DMD) revealed a significant decrease in levels of serum creatine kinase, an enzyme biomarker associated with muscle damage caused by DMD.

The FDA's approval of Epidiolex, to treat seizures associated with 2 rare forms of epilepsy, represents the first approval for a drug containing a purified drug substance from marijuana.

Mixed methods research incorporating interviews found a high concordance between patient-reported qualitative data and assessed tumor response in patients with Merkel cell carcinoma.

In an interview with Rare Disease Report®, Nicholas J. Robert, MD, of McKesson Specialty Health, discussed the challenges and advances involving treating with treating Merkel cell carcinoma.

During the European Hematology Association’s 23rd Congress, held from June 14 to 17 in Stockholm, Sweden, researchers announced that the ELOQUENT-3 phase 2 study, evaluating elotuzumab with pomalidomide and low-dose dexamethasone in patients with relapsed/refractory multiple myeloma, met its primary endpoint in showing a statistically significant, clinically meaningful improvement in progression-free survival.

Patients with rare diseases often face a difficult and long diagnosis and treatment process. Express Scripts recently announced a new Rare Conditions Care Value program that includes the introduction of a support service known as Second Opinion, which offers guidance and expert case review for patients on an individual basis, with PinnacleCare.

Akcea Therapeutics has announced the publication of results from the Re-FOCUS study that sought to assess the burden of familial chylomicronemia syndrome (FCS) on patients and the impact of Akcea's proposed drug, volanesorsen, on disease burden.

A recent study investigated the effectiveness of the augmented binary method for investigating rare diseases in a small sample size.

GBC0905, a small-molecule drug, suppresses DUX4 function and protects skeletal muscle cells from muscle fiber death. Amanda Rickard, lead scientist of Genea Biocells’ FSHD program, said in a statement that the company expects the drug to be curative.

Pulmonary hemosiderosis (PH) is a rare, chronic lung disease characterized by hemoptysis, iron deficiency anemia, and alveolar and/or interstitial opacities on lung imaging. Little about the etiology and pathophysiology of the disease is known, but PH typically involves periods of remission and relapse. New research that investigated the relationships between PH and Down syndrome (DS), and found that patients with DS have a higher risk of developing PH.

The FDA has granted a Breakthrough Therapy designation to bluebird bio, Inc’s Lenti-D, a gene therapy for patients with cerebral adrenoleukodystrophy, an X-linked genetic disorder caused by a defect in the gene ABCD1.

Patients with cystic fibrosis (CF) who were treated with ivacaftor have demonstrated favorable results for clinically important outcomes, including a lower prevalence of CF-related complications and improved lung function, according to a new study.

The FDA has approved BioMarin’s pegvaliase-pqpz (Palynziq), a drug for the treatment of phenylketonuria (PKU) in adults. PKU is a rare autosomal recessive disorder, affecting approximately 1 in every 10,000 to 15,000 people in the United States, that increases the levels of phenylalanine (an amino acid obtained through all dietary proteins and some artificial sweeteners) in the blood.

Legislation, advancing science, and more sophisticated patient advocacy has led to a proliferation of new therapies to treat rare diseases, and society has begun to indicate a willingness to pay for these more expensive therapies, said Clifford Goodman, PhD, senior vice president and director, Center for Comparative Effectiveness Research, The Lewin Group.

Trial results show that patients with hemophilia A with or without factor VIII inhibitors treated with emicizumab-kxwh every 4 weeks can have clinically meaningful control of bleeding.

Massachusetts General Hospital has received a $750,000 human clinical trial grant to explore the use of positron emission tomography imaging of inflammation to serve as a biomarker for amyotrophic lateral sclerosis diagnosis and clinical trials.

While the number of drugs approved for rare diseases has increased significantly since the passage of the Orphan Drug Act of 1983, questions linger about whether is connected with innovation in treatments for rare diseases, especially given the fact that patent protection for new products often extends well beyond the 7 years granted to orphan drugs.

Since the Orphan Drug Designation program was passed in 1983, there have been over 600 orphan drug approvals, compared to less than 10 the decade before, said Stephen Jung, PharmD, BCPS, manager, drug information, MedImpact Healthcare Systems, during a session at the Academy of Managed Care Pharmacy’s Managed Care & Specialty Pharmacy Annual Meeting.

New research published in JAMA reports that lonafarnib, a farnesyltransferase inhibitor (FTI), extended survival in patients with Hutchinson-Gilford progeria syndrome (HGPS), or progeria.

Aimee Tharaldson, PharmD, a senior clinical consultant in Emerging Therapeutics for Express Scripts, discusses specialty drugs that have recently been approved, and which we will likely see approved in the remainder of the year.

Huntington disease (HD) is an incurable, inherited neurological disorder caused by the mutant Huntingtin gene, which produces a mutant form of Huntingtin protein (mHTT). In addition to creating the profound neurological impacts of HD, the mHTT protein also impairs other organ systems, and new research, published in Cell Reports, suggests that the protein may play a role in cardiac-related mortality in patients with HD.

Rare disease can significantly reduce patients’ quality of life, and the use of patient-reported outcome measures (PROMs) can be key to helping researchers understand how diseases and treatments impact quality of life and symptoms, according to a review newly published in the Orphanet Journal of Rare Diseases.

Drug company bluebird bio, Inc, has announced the publication of positive interim data for its gene therapy to eliminate or reduce chronic blood transfusions in patients with transfusion-dependent β-thalassemia.