Pharmafile Logo
  • - PMLiVE
  • - PMLiVE
  • Diversity, Equity and Inclusion
  • Communiqué 53 Cover Image

CRL

- 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

- 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

FDA approves SpringWorks Therapeutics’ Gomekli to treat neurofibromatosis type 1

The rare genetic disorder affects approximately 100,000 people in the US

- PMLiVE

Novo Nordisk invests $1.2bn to establish rare disease production facility in Denmark

The site will be designed to accommodate multiple product types within rare diseases

- PMLiVE

FDA advisory committee recommends Stealth’s elamipretide for Barth syndrome

The ultra-rare genetic disease affects approximately 150 people in the US

- PMLiVE

NHS England begins newborn screening programme to identify rare genetic conditions

The Generation Study is aiming to screen 100,000 newborns for more than 200 diseases

- PMLiVE

FDA approves IntraBio’s Aqneursa to treat Niemann-Pick disease type C patients

The rare lysosomal storage disorder affects approximately one in every 100,000 to 120,000 births

- PMLiVE

MHRA approves Pharming’s Joenja as first drug for rare immune disease APDS

Up to 40 people in the UK are affected by activated phosphoinositide 3-kinase delta syndrome

- PMLiVE

FDA grants rare paediatric disease designation to Enterprise’s cystic fibrosis candidate

The genetic disease is estimated to affect more than 100,000 people globally

- PMLiVE

Championing people-powered communications in rare diseases: AMICULUM’s feature in The Guardian Rare Diseases Campaign 2024

By Ellie Thomas

Amiculum

- PMLiVE

Novo Nordisk and NanoVation to develop genetic medicines in partnership worth $600m

The companies will collaborate on up to seven programmes for cardiometabolic and rare diseases

Subscribe to our email news alerts

Latest content

Latest intelligence

Quick links