Pompe Disease: How This Rare Genetic Disorder Causes Progressive Muscle Weakness and Respiratory Failure

On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

U.S. FDA has granted accelerated approval of Loargys(R) (pegzilarginase-nbln) for the treatment of hyperargininemia in patients 2 years and older with Arginase 1 Deficiency ...

LOARGYS is the first and only therapy proven to lower arginine in patients 2 years of age and older living with ARG1-D -- ARG1-D is an ultra-rare, debilitating, and progressive metabolic disease ...

U.S. FDA has granted accelerated approval of Loargys® (pegzilarginase-nbln) for the treatment of hyperargininemia in patients 2 years and older with Arginase 1 Deficiency (ARG1-D)

Immedica Pharma today announced that the U.S. Food and Drug Administration (FDA) has granted accelerated approval of Loargys® (pegzilarginase-nbln), an arginine specific enzyme indicated for the ...
Endocrinology Advisor

FDA Grants Accelerated Approval to Loargys for Arginase 1 Deficiency

Phase 3 PEACE trial data support the accelerated approval of Loargys for the treatment of arginase 1 deficiency in pediatric and adult patients.
Fierce Pharma

Immedica overcomes prior FDA rebuke for ultrarare disease med to score new approval

Four years after the FDA issued its most heavy-handed form of a rejection to the prior company behind pegzilarginase, the U.S. regulator has now given the treatment a thumbs-up. | Four years after the ...
BioSpace

Rare Disease Groups Lobby for Regulatory Expediency as Makary Defends ‘Rigorous’ Approach

This week’s Capitol Hill meetings come on the heels of rejections of ultra-rare disease drugs developed by Biohaven and Saol Therapeutics. Physicians and patient groups implored the FDA to expedite ...

Rare genetic variant protects against malaria-causing parasite by making red blood cells bigger

Scientists have found that a special component in some people's blood provides them with natural protection against malaria. A recent study has demonstrated that a genetic variant named rs112233623-T ...

FDA moves to facilitate personalized therapies for rare diseases

The Food and Drug Administration is making it possible for pharmaceutical companies to produce bespoke medicines for individual patients, an effort to revolutionize the standard of care for rare ...

BioMarin Pharmaceutical Inc. Q4 2025 Earnings Call Summary

Moby Strategic Performance and Operational Transformation. Achieved record 2025 revenue of $3.22 billion, a 13% increa ...

New policy on rare diseases brings hope to patients, carers

The National Policy for Rare Diseases is a reform initiative aimed at strengthening the country's healthcare ecosystem in addressing rare diseases in a more structured and sustainable manner.

Brain supplements have become a social media wellness trend - but are they safe to take?

On social media, boosting brain health has become a wellness trend - and influencers point to taking fish oil and other ...
The Manila Times

Avenue Therapeutics Enters into Exclusive Worldwide License Agreement for ATX-04 for the Treatment of Pompe Disease

ATX-04 is a selective β2-adrenergic agonist with human proof-of-concept data demonstrating improved muscle function and enhanced response to enzyme replacement therapy ...