Publications by authors named "D Babovic-Vuksanovic"

Purpose: Pharmacologic therapies for neurofibromatosis type 1-associated plexiform neurofibromas (NF1-PNs) are limited; currently, none are US Food and Drug Administration-approved for adults.

Methods: ReNeu is an open-label, multicenter, pivotal, phase IIb trial of mirdametinib in 58 adults (≥18 years of age) and 56 children (2 to 17 years of age) with NF1-PN causing significant morbidities. Patients received mirdametinib capsules or tablets for oral suspension (2 mg/m twice daily, maximum 4 mg twice daily), regardless of food intake, in 3 weeks on/1 week off 28-day cycles.

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Article Synopsis
  • Background: -related schwannomatosis (formerly neurofibromatosis type 2) is a progressive tumor syndrome characterized by various tumors including vestibular and nonvestibular schwannomas, meningiomas, and ependymomas, with no approved treatments available.
  • Methods: A phase 2 trial was conducted involving patients aged 12 and older with -SWN, treating them daily with 180 mg of oral brigatinib, and evaluating tumor response and safety through a central review committee.
  • Results: Out of 40 patients, radiographic response rates were 10% for target tumors and 23% for all tumors, with improvements notably in meningiomas
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Purpose: Selumetinib is an FDA-approved targeted therapy for plexiform neurofibromas in neurofibromatosis type 1(NF1) with durable response rates seen in most, but not all patients. In this proof-of-concept study, we demonstrate single-cell RNA sequencing(scRNAseq) as a technique for quantifying drug response to selumetinib at the single cell level.

Methods: scRNAseq data from neurofibroma biopsies was obtained from a public genomics repository.

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Most rare disease patients (75-50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over time can leverage novel information regarding disease-causing variants and genes, increasing this diagnostic yield. However, time and resource constraints have limited reanalysis of genetic data in clinical laboratories setting.

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