Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.
Identifieur interne : 000B95 ( PubMed/Corpus ); précédent : 000B94; suivant : 000B96Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.
Auteurs : 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. HopkinSource :
- JIMD reports [ 2192-8304 ] ; 2017.
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.
DOI: 10.1007/8904_2017_28
PubMed: 28510034
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.</title><author><name sortKey="Wilcox, William R" sort="Wilcox, William R" uniqKey="Wilcox W" first="William R" last="Wilcox">William R. Wilcox</name><affiliation><nlm:affiliation>Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 305H, Atlanta, GA, 30322, USA. william.wilcox@emory.edu.</nlm:affiliation></affiliation></author><author><name sortKey="Feldt Rasmussen, Ulla" sort="Feldt Rasmussen, Ulla" uniqKey="Feldt Rasmussen U" first="Ulla" last="Feldt-Rasmussen">Ulla Feldt-Rasmussen</name><affiliation><nlm:affiliation>Department of Medical Endocrinology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Martins, Ana Maria" sort="Martins, Ana Maria" uniqKey="Martins A" first="Ana Maria" last="Martins">Ana Maria Martins</name><affiliation><nlm:affiliation>Reference Center for Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo, Brazil.</nlm:affiliation></affiliation></author><author><name sortKey="Ortiz, Alberto" sort="Ortiz, Alberto" uniqKey="Ortiz A" first="Alberto" last="Ortiz">Alberto Ortiz</name><affiliation><nlm:affiliation>Unidad de Dialisis, IIS-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid, Madrid, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Lemay, Roberta M" sort="Lemay, Roberta M" uniqKey="Lemay R" first="Roberta M" last="Lemay">Roberta M. Lemay</name><affiliation><nlm:affiliation>Strategic Epidemiology and Biostatistics, Rare Diseases, Sanofi Genzyme, Cambridge, MA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Jovanovic, Ana" sort="Jovanovic, Ana" uniqKey="Jovanovic A" first="Ana" last="Jovanovic">Ana Jovanovic</name><affiliation><nlm:affiliation>Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Germain, Dominique P" sort="Germain, Dominique P" uniqKey="Germain D" first="Dominique P" last="Germain">Dominique P. 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Hopkin</name><affiliation><nlm:affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28510034</idno><idno type="pmid">28510034</idno><idno type="doi">10.1007/8904_2017_28</idno><idno type="wicri:Area/PubMed/Corpus">000B95</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000B95</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.</title><author><name sortKey="Wilcox, William R" sort="Wilcox, William R" uniqKey="Wilcox W" first="William R" last="Wilcox">William R. Wilcox</name><affiliation><nlm:affiliation>Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 305H, Atlanta, GA, 30322, USA. william.wilcox@emory.edu.</nlm:affiliation></affiliation></author><author><name sortKey="Feldt Rasmussen, Ulla" sort="Feldt Rasmussen, Ulla" uniqKey="Feldt Rasmussen U" first="Ulla" last="Feldt-Rasmussen">Ulla Feldt-Rasmussen</name><affiliation><nlm:affiliation>Department of Medical Endocrinology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Martins, Ana Maria" sort="Martins, Ana Maria" uniqKey="Martins A" first="Ana Maria" last="Martins">Ana Maria Martins</name><affiliation><nlm:affiliation>Reference Center for Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo, Brazil.</nlm:affiliation></affiliation></author><author><name sortKey="Ortiz, Alberto" sort="Ortiz, Alberto" uniqKey="Ortiz A" first="Alberto" last="Ortiz">Alberto Ortiz</name><affiliation><nlm:affiliation>Unidad de Dialisis, IIS-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid, Madrid, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Lemay, Roberta M" sort="Lemay, Roberta M" uniqKey="Lemay R" first="Roberta M" last="Lemay">Roberta M. Lemay</name><affiliation><nlm:affiliation>Strategic Epidemiology and Biostatistics, Rare Diseases, Sanofi Genzyme, Cambridge, MA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Jovanovic, Ana" sort="Jovanovic, Ana" uniqKey="Jovanovic A" first="Ana" last="Jovanovic">Ana Jovanovic</name><affiliation><nlm:affiliation>Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Germain, Dominique P" sort="Germain, Dominique P" uniqKey="Germain D" first="Dominique P" last="Germain">Dominique P. Germain</name><affiliation><nlm:affiliation>Division of Medical Genetics, University of Versailles - St Quentin en Yvelines, Paris-Saclay University, Montigny, France.</nlm:affiliation></affiliation></author><author><name sortKey="Varas, Carmen" sort="Varas, Carmen" uniqKey="Varas C" first="Carmen" last="Varas">Carmen Varas</name><affiliation><nlm:affiliation>Fabry Disease Multidisciplinary Team, Departamento Dermatología y ETS, Hospital San Pablo de Coquimbo, Coquimbo, Chile.</nlm:affiliation></affiliation></author><author><name sortKey="Nicholls, Katherine" sort="Nicholls, Katherine" uniqKey="Nicholls K" first="Katherine" last="Nicholls">Katherine Nicholls</name><affiliation><nlm:affiliation>Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Weidemann, Frank" sort="Weidemann, Frank" uniqKey="Weidemann F" first="Frank" last="Weidemann">Frank Weidemann</name><affiliation><nlm:affiliation>Department of Internal Medicine II, Katharinen-Hospital Unna, Unna, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Hopkin, Robert J" sort="Hopkin, Robert J" uniqKey="Hopkin R" first="Robert J" last="Hopkin">Robert J. Hopkin</name><affiliation><nlm:affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.</nlm:affiliation></affiliation></author></analytic><series><title level="j">JIMD reports</title><idno type="ISSN">2192-8304</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">28510034</PMID><DateCreated><Year>2017</Year><Month>05</Month><Day>16</Day></DateCreated><DateRevised><Year>2017</Year><Month>05</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">2192-8304</ISSN><JournalIssue CitedMedium="Print"><PubDate><Year>2017</Year><Month>May</Month><Day>17</Day></PubDate></JournalIssue><Title>JIMD reports</Title><ISOAbbreviation>JIMD Rep</ISOAbbreviation></Journal><ArticleTitle>Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.</ArticleTitle><ELocationID EIdType="doi" ValidYN="Y">10.1007/8904_2017_28</ELocationID><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wilcox</LastName><ForeName>William R</ForeName><Initials>WR</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 305H, Atlanta, GA, 30322, USA. william.wilcox@emory.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Feldt-Rasmussen</LastName><ForeName>Ulla</ForeName><Initials>U</Initials><AffiliationInfo><Affiliation>Department of Medical Endocrinology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martins</LastName><ForeName>Ana Maria</ForeName><Initials>AM</Initials><AffiliationInfo><Affiliation>Reference Center for Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo, Brazil.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ortiz</LastName><ForeName>Alberto</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Unidad de Dialisis, IIS-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid, Madrid, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lemay</LastName><ForeName>Roberta M</ForeName><Initials>RM</Initials><AffiliationInfo><Affiliation>Strategic Epidemiology and Biostatistics, Rare Diseases, Sanofi Genzyme, Cambridge, MA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jovanovic</LastName><ForeName>Ana</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Germain</LastName><ForeName>Dominique P</ForeName><Initials>DP</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, University of Versailles - St Quentin en Yvelines, Paris-Saclay University, Montigny, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Varas</LastName><ForeName>Carmen</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Fabry Disease Multidisciplinary Team, Departamento Dermatología y ETS, Hospital San Pablo de Coquimbo, Coquimbo, Chile.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nicholls</LastName><ForeName>Katherine</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of Melbourne, Parkville, VIC, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Weidemann</LastName><ForeName>Frank</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Internal Medicine II, Katharinen-Hospital Unna, Unna, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hopkin</LastName><ForeName>Robert J</ForeName><Initials>RJ</Initials><AffiliationInfo><Affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>05</Month><Day>17</Day></ArticleDate></Article><MedlineJournalInfo><Country>Germany</Country><MedlineTA>JIMD Rep</MedlineTA><NlmUniqueID>101568557</NlmUniqueID><ISSNLinking>2192-8304</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Abdominal pain</Keyword><Keyword MajorTopicYN="N">Agalsidase beta</Keyword><Keyword MajorTopicYN="N">Diarrhea</Keyword><Keyword MajorTopicYN="N">Enzyme replacement therapy</Keyword><Keyword MajorTopicYN="N">Fabry disease</Keyword><Keyword MajorTopicYN="N">Fabry registry</Keyword><Keyword MajorTopicYN="N">Gastrointestinal symptoms</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>07</Month><Day>22</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>04</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2017</Year><Month>04</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>5</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>5</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>5</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>aheadofprint</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28510034</ArticleId><ArticleId IdType="doi">10.1007/8904_2017_28</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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