by CheckRare Staff | Jan 9, 2024
« Prev1 / 1Next »WHIM Syndrome: Overview, Diagnosis, and MagementWHIM Syndrome: Overview and Importance of Early Diagnosis (Chapter 1)Managing WHIM Syndrome (Chapter 2)Cancers and Screening Risks Associated With WHIM Syndrome (Chapter 3)« Prev1 /...
by CheckRare Staff | Jan 9, 2024
Kim Moran, SVP, head of U.S. Rare Diseases at UCB, discusses Zilbrysq and the Phase 3 study that led to its approval. Transcription: We have the US FDA approval for ZILBRYSQ, which is based on our pivotal study, which is a Phase 3 study under the acronym of RAISE. It...
by CheckRare Staff | Jan 8, 2024
Björn Mellgård, MD, PhD, Vice President, Global Program Lead, Rare Genetics and Hematology, Takeda, discusses the steps taken for Adzynma to get FDA approved for patients with congenital thrombotic thrombocytopenic purpura (cTTP). Transcription: We had a total of 46...
by CheckRare Staff | Jan 3, 2024
Eric Crombez, MD, Chief Medical Officer of Ultragenyx, describes osteogenesis imperfecta. Transcription: I’m Eric Crombez. I’m Chief Medical Officer at Ultragenyx. I’m a biochemical geneticist by training, so I do have experience during my...
by CheckRare Staff | Jan 2, 2024
First characterized 30 years ago, aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients [1,2]. AADC deficiency is caused by defect in the dopa decarboxylase (DDC) gene, which leads...
