Inborn Errors Of Metabolism

Primary Care Providers Have Mixed Views on Genetic Tests

May 14, 2018

They find tests for genetic risk potentially useful, but lack confidence in interpreting results

FDA Committee in Favor of Waylivra for Rare Metabolic Lipid Disorder

By May 11, 2018

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.

First FDA-Approved Treatment for X-Linked Hypophosphatemia Launched

By April 30, 2018

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.

Lonafarnib May Lower Mortality in Hutchinson-Gilford Progeria

April 25, 2018

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%).

FDA Approves Generic Therapy for Type 1 Gaucher Disease

By April 23, 2018

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 Approved for the Treatment of X-Linked Hypophosphatemia

By April 17, 2018

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.

Elamipretide Granted Orphan Drug Status for Barth Syndrome

By April 09, 2018

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.

Novel Cystic Fibrosis Treatment Granted Fast Track Status

By April 04, 2018

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).

Cystic Fibrosis Combo Treatment Symdeko Gets FDA Approval

By February 13, 2018

Symdeko is Vertex's third medicine approved to treat the underlying cause of CF.

Teva Makes Generic Syprine Available for Treating Wilson's Disease

By February 09, 2018

Trientine hydrochloride is only indicated for use when penicillamine is no longer possible because of intolerability or life endangering side effects.

'Gene Silencing' Drug Under FDA Review for Hereditary ATTR Amyloidosis

By February 02, 2018

Patisiran has been granted Fast Track Designation, Breakthrough Therapy Designation, and an expanded Orphan Drug Designation for ATTR amyloidosis from the FDA.

Early Treatment With Kalydeco Investigated in Young Cystic Fibrosis Patients

By December 08, 2017

Sweat chloride, a diagnostic characteristic of CF, was also considerably reduced with ivacaftor treatment. Median baseline sweat chloride levels were 104.1mmol/L.

Mepsevii Approved to Treat Rare Genetic Disease

By November 16, 2017

Mepsevii (vestronidase alfa-vjbk) was evaluated by the FDA with Priority Review.

Tezacaftor-Ivacaftor, Ivacaftor Monotherapy Examined in Cystic Fibrosis

November 07, 2017

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.

Pompe Disease Treatment Granted Orphan Drug Designation

By September 25, 2017

ATB200 is a unique recombinant human acid alpha-glucosidase (rhGAA) enzyme with optimized carbohydrate structures while AT2221 is a pharmacological chaperone.

Reduced Dosing Option Approved for Orfadin in HT-1

By September 05, 2017

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.

Tezacaftor/Ivacaftor Gets Priority Review for Cystic Fibrosis

By August 25, 2017

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.

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.