Inborn Errors Of Metabolism

New Treatment Option for Hereditary Tyrosinemia Type 1 Approved

By August 01, 2017

The safety and efficacy of Nityr have been established based on studies of another oral formulation of nitisinone in patients with HT-1.

FDA Approves Kalydeco to Treat More Patients with Cystic Fibrosis

By August 01, 2017

Today's FDA approval follows the Agency's recent approval for 23 other residual function mutations based on in vitro data.

Serum γ-Glutamyltransferase Levels May ID MetS in Children

July 28, 2017

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.

First-in-Class Drug for Primary Hyperoxaluria Gets Orphan Drug Designation

By July 13, 2017

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.

SOBI003 Gains Orphan Drug Status for Rare Metabolic Disorder

By July 05, 2017

According to the Company, SOBI003 is currently in the late pre-clinical phase and its first clinical trial is expected to commence in 2018.

Panhematin Available in New Dosage Strength

By July 05, 2017

The new dosage strength better meets the required dose of most patients with acute intermittent porphyria.

Biomarin Submits BLA for New Phenylketonuria Therapy

By July 05, 2017

The investigational drug is intended to substitute the deficient PAH enzyme with a PEGylated phenylalanine lyase enzyme to break down Phe.

Novel Synthetic Bio Drug for Hyperammonemia Granted Fast Track

By June 26, 2017

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.

Acute Hepatic Porphyria Therapy Gets Breakthrough Designation

By May 31, 2017

Currently, the only approved treatment for AHP attacks is hemin for injection (Panhematin or Normosang).

FDA Expands Use of Kalydeco for Cystic Fibrosis

By May 18, 2017

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.

Novel Treatment for IgG4-Related Disease Gains Orphan Drug Status

By May 12, 2017

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.

Enzyme May Make Some Foods 'Safer' For Gluten-Sensitive

By May 08, 2017

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.

Important Information for Clinicians Prescribing Sucraid

By May 04, 2017

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.

Metabolic Outcomes in Trans Teens Receiving Cross-Sex Hormones

April 12, 2017

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.

Avocado May Benefit in Metabolic Syndrome

By April 11, 2017

Researchers conducted a review of 129 articles concerning avocado consumption.

Combo Tx Significantly Improves Lung Function in Cystic Fibrosis Study

By April 11, 2017

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).

First Consumer Genetic Health Risk Tests Get FDA Approval

By April 06, 2017

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.

New Antibiotic Tx Assessed in Cystic Fibrosis Post Lung Function Decline

April 05, 2017

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.

Ryanodex Gets Priority Review for Exertional Heat Stroke

By March 27, 2017

The FDA has accepted and granted Priority Review to the New Drug Application (NDA) of Ryanodex (dantrolene sodium; Eagle) for the treatment of exertional heat stroke (EHS).

Storage Update for Orfadin Capsules

By March 06, 2017

The FDA has approved the supplemental new drug applicationfor Orfadin (nitisinone capsules; Sobi) which allows for an extension of shelf life for the 20mg capsules from 24 months to 36 months.

FDA Grants Orphan Drug Status to Rare Lysosomal Storage Disorder Treatment

March 01, 2017

The FDA has granted Orphan Drug designation to Sangamo's genome editing product candidate, SB-913, for the treatment of Mucopolysaccharidosis Type II (MPS II).

ACOG Updates Recommendations on Carrier Screening

February 27, 2017

Ethnic-specific, panethnic, and expanded carrier screening are all acceptable screening strategies.

FDA Approves Screening System that Detects Metabolic Disorders in Newborns

By February 06, 2017

The Food and Drug Administration has approved the marketing of the Seeker System (Baebies, Inc.) for the screening of four rare lysosomal storage disorders (LSDs) in newborns.

FDA to Review Drug for Exertional Heat Stroke

By January 23, 2017

Eagle announced the complete submission to the Food and Drug Administration (FDA) of its New Drug Application (NDA) for Ryanodex for the treatment of exertional heat stroke (EHS).

FDA Grants Deuterated CF Therapy Orphan Drug Designation

By January 20, 2017

The Food and Drug Administration (FDA) has granted Orphan Drug designation for Concert Pharmaceuticals' CTP-656 (deuterated ivacaftor) for the treatment of cystic fibrosis.

MetS Patients May Require Significantly More Vitamin E

By January 18, 2017

New research indicates that patients with metabolic syndrome (MetS) may need significantly more vitamin E than healthy patients, and that conventional blood tests may not provide an accurate measure of vitamin E levels.

Rare Liver Disorder Therapy Designated Orphan Drug

By November 28, 2016

PhaseRx announced that the Food and Drug Administration (FDA) has granted Orphan Drug Designation for PRX-OTC for the treatment of ornithine transcarbamylase deficiency (OTCD).

IFN-Free Regimen Achieves 100% SVR in HCV Patients With Thalassemia Major

By November 13, 2016

Ledipasvir and sofosbuvir yielded 100% SVR in patients with thalassemia major, a genetic disease, who become infected with hepatitis C virus genotypes 1 and 4.

Novel Mucopolysaccharidosis Tx Designated Orphan Drug

By November 07, 2016

Eloxx announced that the Food and Drug Administration (FDA) has granted Orphan Drug designation to ELX-02, its propriety drug candidate for the treatment of mucopolysaccharidosis type 1 (MPS I).

Maternal Vit B12 Deficiency May Up Diabetes Risk in Offspring

By November 07, 2016

New research has found that antenatal B12 deficiency may be tied to higher than normal leptin levels in offspring, which can lead to type 2 diabetes.