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July 12, 2019July 12, 2019

AIP Patients Need Support, Education to Avoid Recurrence, Study Says

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Continued support, counseling, and education are important for patients with acute intermittent porphyria so that they can use that knowledge to avoid disease recurrence, a study says. The findings ... Read more

July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although ... Read more

June 27, 2019June 27, 2019

New Genetic Test More Sensitive than Standard Technique, May Help Diagnose Acute Hepatic Porphyrias, Study Finds

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A new technique that analyzes a group of genes associated with acute hepatic porphyrias (AHPs) is more sensitive and requires less DNA samples, a process that may speed diagnosis, ... Read more

June 26, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials ... Read more

June 21, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, ... Read more

June 19, 2019June 19, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most ... Read more

June 14, 2019June 14, 2019

Bioenergetic Tests May be Useful Biomarkers of Porphyria Activity, Study Says

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Non-invasive bioenergetic tests may be useful biomarkers to assess disease activity in patients with different types of porphyria, a study says. The study, “Feasibility of cellular bioenergetics as a ... Read more

June 7, 2019June 7, 2019

Alnylam Submits New Drug Application to FDA Seeking Approval of Givosiran for Acute Hepatic Porphyria

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Alnylam Pharmaceuticals has completed its submission of a new drug application (NDA) to the U.S. Food and Drug Administration (FDA), seeking the approval of givosiran for the treatment of ... Read more

May 31, 2019May 31, 2019

AHP Patients Experience Chronic Symptoms Between Attacks, Study Says

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Patients with acute hepatic porphyria (AHP) who suffer from recurrent attacks also experience significant chronic symptoms between attacks, according to results of a new study. The study, “Disease Manifestations ... Read more

May 24, 2019May 24, 2019

Acute Hepatic Porphyria Patients Have Defects in Cellular Energy Production, Pilot Study Suggests

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People with acute hepatic porphyria (AHP), with moderate to severe symptoms, have a deficiency in mitochondrial function — meaning that their cells’ “power plants” don’t work properly, according to ... Read more

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