People with acute intermittent porphyria (AIP) have structural changes in the brain, namely an enlargement of the brain’s ventricles — a set of four communicating cavities — associated with a reduction in the brain’s blood flow, a study suggests. A liver-targeted gene therapy designed to restore the levels of…
A long-term study seeking to deepen the understanding of the natural history of porphyrias — both acute, typically affecting the nervous system, and cutaneous, which causes skin symptoms — is recruiting participants. The Longitudinal Study aims to assess the prevalence of specific indicators of disease severity, and to…
Real-world data support the effectiveness of Scenesse (afamelanotide) in extending tolerance to sunlight among adults with erythropoietic protoporphyria (EPP), a Swiss study found. Treatment with Scenesse increased damage-free light exposure from a median of 10 minutes to three hours. The study, “Increased phototoxic burn tolerance time and…
People with acute intermittent porphyria (AIP) who were treated with Alnylam Pharmaceuticals’ RNA-based therapy Givlaari (givosiran) experienced a rapid and lasting reduction in porphyria attacks — and most remained attack-free for the first six months of the ENVISION trial’s extension study. In addition, no new…
Alnylam Pharmaceuticals has awarded a total of $270,000 to seven patient advocacy groups, including the American Porphyria Foundation (APF), in the company’s Advocacy for Impact grants program. The second annual program, designed to help advocacy groups address unmet needs in rare diseases, will be funding projects that look to promote…
A Phase 3 clinical trial of Mitsubishi Tanabe’s investigational therapy MT-7117 (dersimelagon) for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) has been launched. The study (NCT04402489) will take place at 12 clinical sites in the U.S. and will test the therapy in adults and adolescents.
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…
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