Chapter title |
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry
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Chapter number | 28 |
Book title |
JIMD Reports, Volume 38
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Published in |
JIMD Reports, May 2017
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DOI | 10.1007/8904_2017_28 |
Pubmed ID | |
Book ISBNs |
978-3-66-256609-1, 978-3-66-256610-7
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Authors |
Wilcox, William R., Feldt-Rasmussen, Ulla, Martins, Ana Maria, Ortiz, Alberto, Lemay, Roberta M., Jovanovic, Ana, Germain, Dominique P., Varas, Carmen, Nicholls, Katherine, Weidemann, Frank, Hopkin, Robert J., William R. Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, Alberto Ortiz, Roberta M. Lemay, Ana Jovanovic, Dominique P. Germain, Carmen Varas, Katherine Nicholls, Frank Weidemann, Robert J. Hopkin |
Abstract |
Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained enzyme replacement therapy (ERT) with agalsidase beta on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted. To be included, females of any age must have received agalsidase beta (average dose 1.0 mg/kg every 2 weeks) for at least 2.5 years. Measured outcomes were self-reported gastrointestinal symptoms (abdominal pain, diarrhea). Outcomes at baseline and last follow-up, and their change from baseline to last follow-up, were assessed. Relevant data were available for 168 female patients. Mean age at the start of ERT was 43 years and mean treatment duration 5.7 years. Baseline pre-treatment abdominal pain was reported by 45% of females and diarrhea by 39%. At last follow-up, 31% reported abdominal pain (p < 0.01) and 27% diarrhea (p < 0.01). The results of this Fabry Registry analysis suggest that while on sustained treatment with agalsidase beta (1.0 mg/kg every 2 weeks), both abdominal pain and diarrhea improved in many female patients with Fabry disease. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 21 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 3 | 14% |
Professor > Associate Professor | 3 | 14% |
Professor | 2 | 10% |
Student > Master | 2 | 10% |
Other | 1 | 5% |
Other | 3 | 14% |
Unknown | 7 | 33% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 7 | 33% |
Biochemistry, Genetics and Molecular Biology | 2 | 10% |
Nursing and Health Professions | 2 | 10% |
Mathematics | 1 | 5% |
Unknown | 9 | 43% |