New Drug Treats Dwarfism
Life-changing breakthrough for children Murdoch Children’s Research Institute (MCRI) recently shared a new article from the Herald Sun titled ‘New Drug Treats Dwarfism’ written by Sue Dunlevy. In the post,…
achondroplasia
BridgeBio Announces Positive Phase 2 Cohort 5 Results of Infigratinib in Achondroplasia Demonstrating Mean Increase in Annualized Height Velocity of 3.03 cm/yr with No Treatment-Related Adverse Events
In the highest dose level (Cohort 5, 0.25 mg/kg once daily), the mean change from baseline in annualized height velocity (AHV) at six months was +3.03 cm/yr (p = 0.0022)…
Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia
Svein O. Fredwall, Jennifer Linge, Olga de Vries, Olof Dahlqvist Leinhard, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Mikael Petersson, Per Widholm, Grethe Månum & Ravi Savarirayan Orphanet Journal of Rare Diseases volume 18, Article number: 35 (2023) ABSTRACT BACKGROUNDSymptomatic spinal stenosis is a prevalent complication in…
Those with Achondroplasia are at a Higher Risk of Hight Blood Pressure and Heart Disease
We’re halfway through February! Which means, we’re halfway through Rare Disease Month! In honor of Valentine’s Day, this post focuses on heart health. Did You Know that February is also American Heart Month? Due to…
Any Disease Affecting Fewer Than 200,000 People in the U.S. is Considered Rare
Any disease affecting fewer than 200,00 people in the United States is considered rare. Today, 25+ million Americans are living with a rare disease. Did You Know that 1 in 25,000 children are born with achondroplasia?…
70% of Genetic Rare Diseases Start in Childhood
70% of genetic rare diseases start in childhood. Many rare diseases may result in the premature death of infants or can be fatal in early childhood. 80% of children with…