- PMLiVE

FDA approves Soleno’s Vykat XR as first treatment for hyperphagia in Prader-Willi syndrome

The rare genetic disorder affects an estimated one in every 15,000 newborns in the US

- PMLiVE

Novartis’ Fabhalta granted FDA approval to treat ultra-rare kidney disease C3G

Approximately half of C3G patients progress to kidney failure within ten years of diagnosis

- PMLiVE

Alnylam’s Amvuttra granted FDA approval for rare heart disease ATTR-CM

Approximately 150,000 people in the US are affected by transthyretin amyloid cardiomyopathy

- PMLiVE

Novartis shares positive phase 3 results for spinal muscular atrophy gene therapy

The company said it is planning to file regulatory applications for OAV101 IT this year

- PMLiVE

NICE recommends Pharming’s Joenja as first treatment for ultra-rare immune disease APDS

Approximately 40 to 50 people in the UK are known to be living with the inherited disorder

- PMLiVE

Amgen’s Uplizna shows promise in phase 3 generalised myasthenia gravis study

Regulatory submissions are expected to be complete in the first half of this year

- PMLiVE

AstraZeneca/Ionis’ Wainzua granted EC approval to treat rare disease ATTRv-PN

ATTRv with polyneuropathy affects up to 40,000 people worldwide

- PMLiVE

Vertex’s triple combination cystic fibrosis therapy Alyftrek approved by MHRA

Over 11,000 people in the UK are affected by the rare genetic disease

- PMLiVE

Takeda/Protagonist share positive phase 3 results for rusfertide in rare blood cancer

Up to 160,000 people in the US are affected by polycythaemia vera

- PMLiVE

Rare diseases: Novartis’ Fabhalta recommended by CHMP for C3 glomerulopathy

Approximately one to two people per million worldwide are diagnosed with the ultra-rare kidney disease every year

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Rare diseases: CHMP recommends Krystal’s Vyjuvek for dystrophic epidermolysis bullosa

There is currently only one treatment authorised for the ultra-rare genetic blistering disease

- PMLiVE

Rare Disease Day 2025 – highlighting recent approvals in the rare disease space

There are more than 7,000 known rare diseases that impact 300 million people globally

- PMLiVE

Researchers discover previously unidentified genes linked to rare diseases

Up to 80% of rare disease patients remain undiagnosed after genomic sequencing

- PMLiVE

Defying the odds: speeding patient access to life-changing treatments in rare disease

To deliver treatments for rare diseases more quickly, companies share how they are adapting their launch strategies and engaging more deeply with physicians and experts

- PMLiVE

FDA approves Mirum’s Ctexli as first treatment for rare lipid storage disease CTX

The progressive genetic disorder affects up to 2,000 people in the US