Drug Combo Tolerated in Younger Children With Cystic Fibrosis
Lumacaftor/ivacaftor safe in children ages 2 to 5 with cystic fibrosis homozygous for F508del-CFTR
Inborn Errors Of Metabolism
AI Technology IDs Genetic Diseases by Analyzing Facial Photos
Certain genetic diseases can be detected by new artificial intelligence technology that analyzes a photo of a person’s face.
Newborn Genomic Sequencing can Identify Disease Risk
The researchers found that 9.4% of 159 newborns had a risk for disease-onset during childhood; none of the disease risks were predicted by infants’ known clinical or family histories.
RNA-Based Oligonucleotide Gets Fast-Tracked for Usher Syndrome Type 2
The treatment will be investigated in a Phase 1/2 safety and tolerability trial (STELLAR) where patients (N=18) will receive either a single dose administration of QR-421a via intravitreal injection or a sham procedure.
Ravicti Approved for Children Under 2 Months With Urea Cycle Disorders
The approval was based on a study that assessed the safety, efficacy, and pharmacokinetics of Ravicti in 16 patients with UCDs less than 2 months of age.
Edsivo Gets Priority Review for Vascular Ehlers-Danlos Syndrome
Vascular EDS is the most severe subtype of Ehlers-Danlos syndrome where patients suffer from life-threatening arterial dissections and ruptures, as well as intestinal and uterine ruptures.
Lonafarnib Gets Breakthrough Tx Designation for Progeria, Progeroid Laminopathies
There is currently no approved treatment for progeria, an ultra-rare and rapidly fatal genetic condition that causes accelerated aging in children.
Hypertonic Saline Inhalation Safety Tested in Infants With Cystic Fibrosis
In infants with cystic fibrosis (CF), preventive inhalation with hypertonic saline (HS) during the first months of life is safe and well tolerated and results in clinical improvements, according to a new study.
Updated Infant Administration Procedure Approved for Nityr
The labeling now states that a caregiver may disintegrate the Nityr tablet in an oral syringe up to 24 hours before administration.
Development Program for Glut1 Deficiency Syndrome Drug to Be Discontinued
The decision was made after results from a Phase 3 trial (N=44) comparing UX007 to placebo did not show a statistically significant reduction in paroxysmal movement events in favor of the treatment (primary endpoint).
