Inborn Errors Of Metabolism

Updated Infant Administration Procedure Approved for Nityr

By November 12, 2018

The labeling now states that a caregiver may disintegrate the Nityr tablet in an oral syringe up to 24 hours before administration.

Development Program for Glut1 Deficiency Syndrome Drug to Be Discontinued

By October 26, 2018

The decision was made after results from a Phase 3 trial (N=44) comparing UX007 to placebo did not show a statistically significant reduction in paroxysmal movement events in favor of the treatment (primary endpoint).

Triple Combo Regimens May Address Cause of Cystic Fibrosis

October 19, 2018

The researchers observed significant improvement in the processing and trafficking of the Phe508del CFTR protein with VX-659-tezacaftor-ivacaftor, as well as improved chloride transport in vitro.

Novel Inhaled Treatment for Cystic Fibrosis Granted Orphan Drug Designation

By October 11, 2018

SNSP113 is intended to improve lung function in CF patients by targeting key drivers of pulmonary decline such as infection, airway congestion and inflammation.

Revcovi Approved for Adenosine Deaminase Severe Combined Immune Deficiency

By October 09, 2018

The FDA approval was supported by data from 2 multicenter, open-label clinical trials (Study 1 [N=6] and Study 2 [N=4])

Tegsedi Approved for Polyneuropathy of Hereditary Transthyretin-Mediated Amyloidosis

By October 09, 2018

The approval was based on data from the Phase 3 NEURO-TTR study (N=173) which randomized patients with polyneuropathy caused by hATTR amyloidosis to Tegsedi or placebo.

Treatment for Transthyretin Amyloidosis Granted Orphan Drug Designation

By October 04, 2018

The Company expects to start Phase 3 studies for ATTR cardiomyopathy and polyneuropathy in the first half of 2019.

FDA Fast-Tracks Miransertib for PIK3CA-Related Overgrowth Spectrum

By September 14, 2018

Miransertib is an orally available, selective, pan-AKT (protein kinase B) inhibitor that potently inhibits AKT1, 2 and 3 isoforms.

Updated Contraindications, Dosing for Gaucher Disease Treatment Cerdelga

By September 04, 2018

Cerdelga is indicated for the long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers, intermediate metabolizers, or poor metabolizers as detected by an FDA-cleared test.

FDA Issues CRL Rejecting Waylivra Approval for Familial Chylomicronemia Syndrome

By August 28, 2018

"We are extremely disappointed with the FDA's decision. We continue to feel strongly that Waylivra demonstrates a favorable benefit/risk profile in people with FCS," said Akcea CEO, Paula Soteropoulos.

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.