Getting an early diagnosis could potentially improve quality of life and alleviate “healthcare burdens” for people in Taiwan who are living with porphyria, according to a 20-year nationwide study that showed higher mortality rates and a younger age at death for patients compared with the general population. The retrospective, two-decade…
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A treatment approved for adults, called Scenesse (afamelanotide), successfully treated a 9-year-old girl with erythropoietic protoporphyria (EPP) and extreme light sensitivity that required her family to live in darkness. According to a case study from Switzerland, the medication safely restored her light tolerance within days, quickly returning her…
In rare cases, epilepsy and posterior reversible encephalopathy syndrome (PRES), a condition marked by brain swelling that leads to seizures, headaches, and confusion, may be the first signs of acute intermittent porphyria (AIP), according to a case report. “This case highlights the heterogeneous [varied] neurological manifestations of AIP,…
Supplements of bacteria-derived lipoteichoic acid and alpha-lipoic acid — an insulin sensitizing compound — may help improve blood sugar control and the body’s response to insulin during a high-carbohydrate diet for acute intermittent porphyria (AIP), according to a study in mice. The study, “Oral lipoteichoic and lipoic acids…
A liver biopsy helped doctors diagnose a 75-year-old man who arrived at the hospital with abdominal pain and jaundice (yellowing of the skin and eyes) with protoporphyria, a type of porphyria. He recovered without treatment as his liver function improved spontaneously, according to a case report. “This report highlights…
Testing umbilical cord blood can help identify newborns with undiagnosed erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), two inherited forms of porphyria marked by extreme sensitivity to light, according to a small study from the U.K. While symptoms of these diseases generally emerge at 1 year of age, extremely…
Disc Medicine has received a Commissioner’s National Priority Voucher from the U.S. Food and Drug Administration (FDA) following its submission of a new drug application seeking accelerated approval of bitopertin, an investigational oral small molecule being developed for the treatment of erythropoietic protoporphyria (EPP) in patients ages…
PORT-77, an oral small molecule therapy being developed to treat erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), by Gondolabio through its affiliate Portal Therapeutics, has been granted both orphan drug and fast track status by the U.S. Food and Drug Administration (FDA). Orphan drug designation supports therapies for rare…
Skin damage in variegate porphyria (VP) is worsened by impaired formation of the protective outer skin layers, according to a study using skin cells. The study, “Reduced PPOX expression causes intrinsic pathogenicity in keratinocytes, contributing to the cutaneous Variegate Porphyria phenotype,” was published in the Journal…
A man with genetically confirmed porphyria was treated for blocked heart arteries using stents — thin, mesh-like tubes — that slowly release medication inside the coronary arteries supplying the heart to keep the blood vessels open, according to a report. The stents, coated with everolimus or sirolimus, two drugs…
Recent Posts
- The porphyria attacks that stomp on my ‘cute inner mitten’
- Early diagnosis in porphyria key to better quality of life: 20-year study
- My father’s legacy is the embodiment of hope in action
- Scenesse quickly calms burning light pain for 9-year-old with EPP
- Epilepsy, brain swelling may be first symptoms of AIP: Case report
- Mouse study points to new way to ease high-carb effects in AIP
- Liver biopsy shows protoporphyria, solving diagnostic mystery
- Testing umbilical cord blood can help ID porphyria in newborns
- FDA grants priority voucher for investigational EPP drug bitopertin