Publications by authors named "A Petryk"
Background: Hypophosphatasia (HPP) is a rare disease caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP), encoded by the ALPL gene. The primary objective was to explore novel ALPL variants by whole genome sequencing (WGS) in patients with HPP who previously tested negative by standard methods for ALPL variants. The secondary objective was to search for genes beyond ALPL that may reduce ALP activity or contribute to HPP symptoms.
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- Hypophosphatasia (HPP) is a rare genetic disorder linked to low levels of alkaline phosphatase due to ALPL gene variants, with a focus on data from the Global HPP Registry.
- Out of 1176 enrolled patients, 814 met the criteria, with the majority located in Europe and North America, and most patients had one known disease-causing variant.
- The study highlighted distinct regional differences in ALPL variants, particularly in Japan, where more patients had two variants and earlier disease onset; 23 novel variants were also identified mainly in Europe.
Article Synopsis
- Hypophosphatasia (HPP) is a rare inherited disease that causes chronic pain, fatigue, and mobility issues in adults due to low enzyme activity; enzyme replacement therapy, asfotase alfa, may help alleviate these symptoms.
- A study using the Global HPP Registry examined the effectiveness of asfotase alfa in adults aged 18 and older who had low alkaline phosphatase levels and received treatment for at least six months.
- Results showed significant improvements in patients' mobility (6-Minute Walk Test), pain severity, and overall quality of life over the course of 36 months, highlighting the potential benefits of asfotase alfa for those living with HPP.
Background: Hypophosphatasia (HPP) is a rare, heritable metabolic disorder caused by deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP). Asfotase alfa (AA) is a human recombinant TNSALP that promotes bone mineralization and is approved to treat eligible patients with HPP.
Methods: This prospective single-center observational study evaluated AA in adults with pediatric-onset HPP over 2 years of treatment (ClinicalTrials.
Article Synopsis
- The study aimed to analyze the clinical profiles of children with hypophosphatasia (HPP) before they start enzyme replacement therapy (ERT).
- Data from 151 children enrolled in the Global HPP Registry showed that HPP affects both skeletal and extraskeletal areas, with significant differences based on the age of first symptoms and geographic location.
- Findings revealed variations in symptoms and presentations, emphasizing the need for thorough evaluations of HPP children before starting ERT.