Publications by authors named "C J Allegra"
Article Synopsis
- The study aimed to assess the prevalence, age distribution, and functional status of Duchenne muscular dystrophy (DMD) in Italy, highlighting improvements in care recommendations.
- The survey involved data collection from 31 reference centers across the country, identifying key demographic and functional factors among 972 diagnosed individuals aged 6 months to 48 years.
- Results showed a prevalence of 1.65/100,000 people, with 43% ambulant and 57% non-ambulant, and most patients did not require significant respiratory or nutritional support.
Article Synopsis
- BAP1 mutations lead to a loss of function affecting cell cycle and DNA repair, making patients potentially responsive to PARP inhibitors like niraparib.
- A phase II trial evaluated niraparib in patients with advanced tumors likely to have mBAP1 mutations, focusing on response rates, progression-free survival, and overall survival.
- Despite not meeting the primary efficacy goal, some clinical benefits were observed in patients with confirmed mBAP1 mutations, suggesting the need for further research.
Article Synopsis
- Oncogenic KRAS signaling is vital in pancreatic ductal adenocarcinoma (PDAC), and previous treatments targeting MEK and BCL-xL were ineffective due to amplified EGFR signaling in patients.
- A new strategy using a triplet therapy involving trametinib (MEK inhibitor), DT2216 (BCL-xL degrader), and afatinib (EGFR inhibitor) showed improved results in killing PDAC cells both in lab tests and in mouse models.
- The combination produced significantly better tumor growth reduction compared to double treatments and highlighted EGFR's role, suggesting this triplet approach warrants clinical testing for PDAC patients.
Article Synopsis
- Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene, impacting dystrophin production in muscle tissues, which is important for patient care and treatment development.
- A study of 943 BMD patients revealed the median age at diagnosis was 7.5 years, with significant findings including that about 13.5% lost mobility by an estimated age of 69, while 30% experienced cardiac issues.
- Different types of DMD mutations correlated with variations in disease progression, particularly affecting loss of ambulation and heart functionality, highlighting the importance of precise genetic characterization for managing BMD.
Phase III trials that randomly assign patients to a control treatment (C), an experimental treatment (A), or a combination treatment (AB) should be designed with the goal to recommend the best treatment: AB (if it is better than A and C), A (if it is better than C, and AB is not better than A), or C (if neither AB nor A is better than C). However, this goal can be challenging to achieve with statistical confidence. We performed a survey of cancer trials published in five journals from January 2018 to May 2024 to assess the trial designs being used in this setting and found that three quarters of them did not have a provision for a formal comparison of the AB treatment arm with the A treatment arm, a possible shortcoming.
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