Inborn Errors Of Metabolism
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.
This investigational lentiviral-based gene therapy is currently being studied in the Phase 2/3 Starbeam Study, a 2-year study assessing the safety and efficacy of Lenti-D in boys ≤17 years old with CALD.
Antisense technology refers to the use of synthetic nucleic acid sequences to interrupt specific protein production by targeting the corresponding messenger RNA that encodes that protein.
Crysvita, a recombinant fully human monoclonal IgG1 antibody, works by blocking fibroblast growth factor 23 (FGF23), a hormone that causes phosphate urinary excretion and suppresses vitamin D production by the kidney.
Patients were treated for a median of 2.2 years. The researchers found that the primary cause of death was heart failure (79.4%), when identified. One death (3.7%) occurred among the 27 patients in the first trial group; among the 27 patients in the matched untreated group, there were 9 deaths (33.3%).
Miglustat, a glucosylceramide synthase inhibitor, is indicated as monotherapy for the treatment of adults with mild to moderate type 1 Gaucher disease for whom enzyme replacement therapy is not a therapeutic option (eg, due to allergy, hypersensitivity, or poor venous access).
Crysvita is an antibody that blocks fibroblast growth factor 23 (FGF23), a hormone that causes phosphate urinary excretion and suppresses active vitamin D production by the kidney.
The TAZPOWER study is a randomized, double-blind, placebo-controlled Phase 2/3 crossover study evaluating the safety and efficacy of elamipretide (daily subcutaneous injections) in 12 male patients (aged ≥12 years) with genetically-confirmed Barth syndrome.
Proteostasis Therapeutics is developing the combination treatment which includes a novel transmembrane conductance regulator (CFTR) amplifier (PTI-428), a third generation corrector (PTI-801) and a potentiator (PTI-808).
Trientine hydrochloride is only indicated for use when penicillamine is no longer possible because of intolerability or life endangering side effects.
Patisiran has been granted Fast Track Designation, Breakthrough Therapy Designation, and an expanded Orphan Drug Designation for ATTR amyloidosis from the FDA.
Sweat chloride, a diagnostic characteristic of CF, was also considerably reduced with ivacaftor treatment. Median baseline sweat chloride levels were 104.1mmol/L.
The researchers found that the effects on the absolute and relative changes in the percentage of the predicted FEV1 were 4 and 6.8%, respectively, in favor of tezacaftor-ivacaftor over placebo.
ATB200 is a unique recombinant human acid alpha-glucosidase (rhGAA) enzyme with optimized carbohydrate structures while AT2221 is a pharmacological chaperone.
The approval of the once-daily dosing option was based on a clinical study that compared a 4-week once-daily regimen to a 4-week twice daily regimen.