Patricia Inácio, PhD, science writer —

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

Patients with acute intermittent porphyria (AIP) who take hemin as preventive therapy use fewer healthcare resources than those who take the medicine for acute attacks, according to a study based on U.S. real-world data. The study, “Real-world annualized healthcare utilization and expenditures among insured US…

A tissue-specific mechanism was found to take part in the regulation of iron levels in the body, a discovery that may have implications for new therapies for diseases such as porphyria, a study in fruit flies suggests. The study, “Glycogen branching enzyme controls cellular iron homeostasis via Iron…

Most acute hepatic porphyria (AHP) patients with recurrent attacks also experience significant chronic symptoms between attacks, with more than 75% of them needing to be hospitalized or treated with hemin, a study drawn from an ongoing trial into this disease’s natural history reports. EXPLORE, as this trial to characterize AHP in…

Toxic accumulation of protoporphyrin IX in the skin and liver of people with erythropoietic protoporphyria (EPP) — the most common porphyria of childhood — occurs through the action of the protein transporter ABCG2, a recent mouse study shows. The findings suggest that blocking ABCG2 might be a way of treating EPP.

The U.S. Food and Drug Administration (FDA) has accepted and granted priority review status to Alnylam Pharmaceutical’s new drug application (NDA) seeking approval of givosiran for treating acute hepatic porphyria (AHP). Priority review means the FDA’s decision on whether to approve the therapy is expected within six months instead of the 10…

Researchers identified two previously unknown mutations in the coproporphyrinogen oxidase (CPOX) gene as the underlying cause of a rare form of hereditary coproporphyria, called harderoporphyria, in a 78-year old man. The study, “Harderoporphyria: Case of lifelong photosensitivity associated with T compound heterozygous coproporphyrinogen oxidase (CPOX) mutations“ was published in the…

Alnylam Pharmaceuticals has announced that its investigational therapy givosiran achieved the primary efficacy and the majority of secondary endpoints in the ENVISION Phase 3 trial with acute hepatic porphyria patients. Treatment with givosiran significantly reduced the annualized rate of porphyria attacks requiring hospitalization, urgent healthcare visits, or hemin administration at home…

The antiviral combo therapy of ribavirin and sofosbuvir successfully cleared a patient’s hepatitis C virus and led to remission of his porphyria cutanea tarda (PCT), a case study reports. The study, “Improvement of porphyria cutanea tarda following treatment of hepatitis C virus by direct-acting antivirals: A case…

Nonconvulsive status epilepticus, a condition characterized by confusion, inability to speak, and diminished awareness, has been reported for the first time in a patient with variegate porphyria, according to a case study. The study, “Nonconvulsive status epilepticus secondary to acute Porphyria crisis,” was published in the journal,…