Inborn Errors Of Metabolism
Certain genetic diseases can be detected by new artificial intelligence technology that analyzes a photo of a person's face.
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.
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.
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.
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.
There is currently no approved treatment for progeria, an ultra-rare and rapidly fatal genetic condition that causes accelerated aging in children.
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.
The labeling now states that a caregiver may disintegrate the Nityr tablet in an oral syringe up to 24 hours before administration.
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).
The researchers observed significant improvement in the processing and trafficking of the Phe508del CFTR protein with VX-659-tezacaftor-ivacaftor, as well as improved chloride transport in vitro.
SNSP113 is intended to improve lung function in CF patients by targeting key drivers of pulmonary decline such as infection, airway congestion and inflammation.
The FDA approval was supported by data from 2 multicenter, open-label clinical trials (Study 1 [N=6] and Study 2 [N=4])
The approval was based on data from the Phase 3 NEURO-TTR study (N=173) which randomized patients with polyneuropathy caused by hATTR amyloidosis to Tegsedi or placebo.
The Company expects to start Phase 3 studies for ATTR cardiomyopathy and polyneuropathy in the first half of 2019.
Miransertib is an orally available, selective, pan-AKT (protein kinase B) inhibitor that potently inhibits AKT1, 2 and 3 isoforms.
Cerdelga is indicated for the long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers, intermediate metabolizers, or poor metabolizers as detected by an FDA-cleared test.
"We are extremely disappointed with the FDA's decision. We continue to feel strongly that Waylivra demonstrates a favorable benefit/risk profile in people with FCS," said Akcea CEO, Paula Soteropoulos.
The approval was supported by data from ARRIVAL (N=25), an ongoing Phase 3 open-label safety study in children with CF aged 12 to <24 months with 1 of 10 CFTR gene mutations (G551D, G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P, G1349D or R117H).
The indication was approved under an accelerated approval pathway based on reduction in kidney interstitial capillary cell globotriaosylceramide (KIC GL-3) substrate.
Five Phase 1 and three Phase 2 clinical trials of DCCR have been completed, with one of the Phase 2 trials involving PWS patients.
"These children don't have to die," KidsAndCars.org founder and president Janette Fennell said in a statement. "Parents and caregivers have the power to make sure that this doesn't happen to them."
For the same 25 cases, a Heat Index screening threshold of 85 degrees Fahrenheit could identify potentially hazardous levels of workplace environmental heat when WBGT was unavailable. Six fatalities occurred when the Heat Index was <91 degrees Fahrenheit.
CUTX-101, a subcutaneous injectable formulation of copper histidinate, is designed to supplement blood and brain copper levels in patients with Menkes disease.
This case details complications related to tattooing in a 31-year-old woman with a history of cystic fibrosis who had undergone bilateral lung transplantation in 2009 and was on long-term immunosuppressive therapy.
Current treatments for MPS 1 include bone marrow transplant and enzyme replacement with a recombinant form of human IDUA administered intravenously.
Palynziq is a PEGylated phenylalanine ammonia lyase enzyme that converts phenylalanine to ammonia and trans-cinnamic acid.