In children 2 years of age or older with cystic fibrosis (CF), treatment with lumacaftor/ivacaftor (LUM/IVA) early in the disease course may modify disease progression, according to findings from a phase 2, placebo-controlled trial published in Annals of the American Thoracic Society. Among individuals with CF, mutations in the gene that encodes the CF transmembrane conductance…
The spinal muscular atrophy (SMA) gene therapy, onasemnogene abeparvovec, is safe and well tolerated when administered intrathecally, a phase 1 ascending-dose clinical trial called STRONG discovered. The trial also found that older patients given the medium dose of the treatment showed increases in Hammersmith Functional Motor Scale Expanded (HFMSE) scores, a measure of physical ability…
Authors of a new study have developed a simple echocardiographic risk stratification system for pediatric patients with pulmonary arterial hypertension (PAH). The study, published in the Journal of the American Heart Association, found that right atrial area, left ventricular eccentricity index, and tricuspid annular plane systolic excursion (TAPSE) were particularly predictive of prognosis in these…
A new clinical trial, AVANCE1, is recruiting adult and pediatric patients with Duchenne muscular dystrophy (DMD) to investigate the safety, pharmacokinetics (PK), and pharmacodynamics of a novel antisense oligonucleotide called SQY51. The trial, sponsored by SQY Therapeutics and Biotrial, is recruiting up to 12 participants to initially receive escalating intravenous infusions of SQY51 every 2…
A case report of a mother and her children with familial medullary thyroid carcinoma (MTC) was presented as an ePoster at the 2023 International Meeting of Pediatric Endocrinology (IMPE 2023). A 32-year-old mother was diagnosed with metastatic MTC after progressive weakness of her extremities, weight loss, and dysarthria. She was found to have a TGC-TGG…
A new study has confirmed the increased risk of obstructive sleep apnea (OSA) in children with sickle cell disease (SCD) and found that this population is at increased risk of severe OSA. The study, published in The Laryngoscope, also determined that the study participants with SCD had lower rates of obesity and lower mean apnea-hypopnea…
It may be possible to counter muscle disuse and improve endurance in boys with Duchenne muscular dystrophy (DMD) using aerobic cycle training, according to new results that will be presented at the 2023 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference. The results are based on a home-based, cycle-training program developed specifically for boys with…
A team from the Universidade Federal de Sao Paulo in Brazil reported the case of a patient with lysosomal acid lipase deficiency (LAL-D) who experienced severe malabsorption after interrupting enzyme replacement therapy (ERT). “This case serves as an alert that when ERT is interrupted, there is a rapid clinical deterioration,” the team wrote in an…
A boy with alpha-1 antitrypsin deficiency (AATD) underwent a liver transplantation from a heterozygous donor, researchers reported in Pediatric Transplantation. The 9-year-old boy was diagnosed with AATD (ZZ phenotype) at 4 months of age. At that time, he presented with hepatomegaly and was treated with ursodeoxycholic acid and offered supportive care. At 7 years of…
Triheptanoin dramatically decreased the frequency and severity of rhabdomyolysis in a 6-year-old female patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD), according to a case study published in Neuromuscular Disorders. However, the treatment did not change the progression of retinopathy. The patient was diagnosed with LCHADD, a type of long-chain fatty acid oxidation disorder (LCFAOD),…
