Inborn Errors Of Metabolism
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.
The FDA has granted Priority Review to the New Drug Application (NDA) of tezacaftor/ivacaftor (Vertex) for the treatment of patients ≥12yrs old with cystic fibrosis (CF) who have two copies of the F508del mutation or one F508del mutation and one residual function mutation.
The safety and efficacy of Nityr have been established based on studies of another oral formulation of nitisinone in patients with HT-1.
Today's FDA approval follows the Agency's recent approval for 23 other residual function mutations based on in vitro data.
After adjustment for age, household income, and residential area, the multivariable-adjusted odds ratios for MetS for the upper stratum were 5.79 and 6.20 in boys and girls, respectively.
The Orphan Drug designation was supported by data from preliminary studies showing that ALLN-177 significantly decreased urinary and plasma oxalate in several rodent and porcine models.
According to the Company, SOBI003 is currently in the late pre-clinical phase and its first clinical trial is expected to commence in 2018.
The investigational drug is intended to substitute the deficient PAH enzyme with a PEGylated phenylalanine lyase enzyme to break down Phe.
Synthetic Biotic medicines utilize synthetic biology to reprogram probiotic bacteria to perform critical functions that compensate for those missing or damaged due to a particular disease.
The FDA's decision was based on analyses of in vitro data and real-world clinical data spanning over five years on the safety and efficacy of Kalydeco.
There is currently no approved treatment for lgG4-RD, which is a newly recognized disorder and is estimated to affect 40,000 individuals in the U.S.
However the authors emphasized that the enzyme was not tested and is not recommended for use in patients with celiac disease, as even a small amount of gluten can inflict long-term damage in these patients.
The FDA is recommending that clinicians prioritize access to the unapproved lot of Sucraid for patients with severe CSID and for patients with evidence of malnutrition.
The researchers found that of the 72 subjects taking testosterone, at each visit significant increases in hemoglobin/hematocrit levels and BMI were recorded, as was a decrease in high-density lipoprotein level.
Results showed that the ivacaftor/tezacaftor group reached the primary endpoint with a mean absolute improvement in ppFEV1 of 4% points from baseline vs. placebo (P<0.0001).
While the GHR tests may provide genetic risk information, they cannot determine a person's overall risk for developing a disease, as other factors beyond genetics (ie, environment, lifestyle) may also influence risk.
The researchers found that new antibiotic treatment was associated with an increased likelihood of recovery to 90% of baseline (P<0.001), especially for hospitalization compared to no new antibiotic.