Inborn Errors Of Metabolism

Kalydeco Approved to Treat Cystic Fibrosis in Children 12 to <24 Months

By August 17, 2018

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).

Galafold Approved for the Treatment of Adults With Fabry Disease

By August 13, 2018

The indication was approved under an accelerated approval pathway based on reduction in kidney interstitial capillary cell globotriaosylceramide (KIC GL-3) substrate.

First-in-Class Therapy Approved for Polyneuropathy Caused by hATTR

By August 10, 2018

The mechanism of siRNAs consists of silencing a portion of RNA involved in causing the disease.

FDA Grants Orphan Drug Status to Angelman Syndrome Treatment

By August 10, 2018

Delay or lack of speech, seizures, and walking/balance disorders are some of the symptoms associated with AS.

Orkambi Approved to Treat Younger Cystic Fibrosis Patients

By August 08, 2018

The approval was based on data from a 24-week, open-label, Phase 3 study in patients aged 2 to 5 years.

Treatment for Prader-Willi Syndrome Gets Fast Track Designation

By July 31, 2018

Five Phase 1 and three Phase 2 clinical trials of DCCR have been completed, with one of the Phase 2 trials involving PWS patients.

Parents Urged to 'Look Before You Lock' Cars

July 10, 2018

"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."

Occupational Exposure Limits for Heat Stress Often Exceeded: CDC

July 09, 2018

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.

Menkes Disease Treatment Granted Fast Track Status by FDA

By July 02, 2018

CUTX-101, a subcutaneous injectable formulation of copper histidinate, is designed to supplement blood and brain copper levels in patients with Menkes disease.

Azithromycin Cuts Pulmonary Exacerbation in CF With Early <i>Pa</i>

June 28, 2018

Risk of pulmonary exacerbation down for children with cystic fibrosis, early Pseudomonas aeruginosa

Tattoo-Linked Complications ID'd in Immunosuppressed Female

June 19, 2018

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.

Gene Therapy for Mucopolysaccharidosis Type I Gets Fast Track Designation

By June 15, 2018

Current treatments for MPS 1 include bone marrow transplant and enzyme replacement with a recombinant form of human IDUA administered intravenously.

First Enzyme Substitution Therapy Approved for Phenylketonuria in Adults

By May 25, 2018

Palynziq is a PEGylated phenylalanine ammonia lyase enzyme that converts phenylalanine to ammonia and trans-cinnamic acid.

Lenti-D Gets Breakthrough Tx Designation for Cerebral Adrenoleukodystrophy

By May 24, 2018

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.

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.