News

The approved antifungal Ciclopirox is a potential therapy to stabilize and enhance the function of the uroporphyrinogen III synthase, the enzyme whose defective activity causes congenital erythropoietic porphyria (CEP). This is one example of how therapies already approved for one disorder can be repurposed for other diseases. The study, “…

Patients with abdominal pain, seizures and brain imaging indication of posterior reversible encephalopathy syndrome (PRES) could have acute intermittent porphyria (AIP), according to two new case reports and a literature review. The study, “Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and…

Although progress has been made, more research is needed to develop effective therapeutic options for cutaneous porphyria, researchers said in a recent editorial, highlighting the latest advancements in the understanding of the disease, as well as possible pharmacological and non-pharmacological treatments. The editorial, “Shedding light on…

A Phase 3 clinical trial evaluating the effects of givosiran, an investigational therapy for acute hepatic porphyria (AHP), has completed patient enrollment, Alnylam Pharmaceuticals announced. The trial (NCT03338816), called ENVISION, enrolled a total of 94 AHP patients at 36 sites in 18 countries, ahead of schedule and surpassing the…

A new case report illustrates common misdiagnosis given, and lack of awareness among clinicians, that may cause severe complications to patients with acute intermittent porphyria (AIP). The study, “Many pitfalls in diagnosis of acute intermittent porphyria: a case report,” appeared in the journal BMC Research…

Physicians in Canada have reported the case of report of a 4-year-old boy whose delayed — and severe —reaction to sunlight led to a diagnosis of erythropoietic protoporphyria (EPP). The case was described in the study “Delayed photosensitivity in a child with erythropoietic protoporphyria: a case…

Medical researchers in India have reported an unusual case of coexisting acute intermittent porphyria (AIP) and a genetic skin disorder in a 9-year-old boy. The rare clinical case was described in the study, “A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy,”…

Researchers at the University of Alberta in Canada reported a case of porphyria cutanea tarda that presented with rare symptoms, such as skin scarring, loss of pigmentation, and hair loss. The case report, “Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo,” was published in…

Most acute intermittent porphyria patients spoke in a small study of experiencing chronic symptoms in addition to acute attacks, and felt they significantly affected their ability to go about many activities that make up daily life. The study, “Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease…

A newly identified mutation in the HMBS gene was found to be linked to acute intermittent porphyria in a patient in China. The case report,  “Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type…