Pub Date : 2026-02-03DOI: 10.1186/s13023-026-04228-2
Brandon M Wilk, Manavalan Gajapathy, Donna M Brown, Virginia E Duncan, Elizabeth A Worthey
{"title":"Multi-omic analysis identifies a multi-step pathology in a case of multiple chorangioma syndrome in monochorionic twins.","authors":"Brandon M Wilk, Manavalan Gajapathy, Donna M Brown, Virginia E Duncan, Elizabeth A Worthey","doi":"10.1186/s13023-026-04228-2","DOIUrl":"10.1186/s13023-026-04228-2","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":"56"},"PeriodicalIF":3.5,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-03DOI: 10.1186/s13023-026-04236-2
Helena F Pernice, Susann May, Felix Mühlensiepen, Sebastian Spethmann, Ricarda Kneitz, Agata Mossakowski, Katrin Hahn
{"title":"Patient journey with Charcot-Marie-Tooth Disease - A German patient survey study.","authors":"Helena F Pernice, Susann May, Felix Mühlensiepen, Sebastian Spethmann, Ricarda Kneitz, Agata Mossakowski, Katrin Hahn","doi":"10.1186/s13023-026-04236-2","DOIUrl":"https://doi.org/10.1186/s13023-026-04236-2","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-03DOI: 10.1186/s13023-026-04235-3
Jacqueline Alves Leite, Leandro Augusto de Oliveira Barbosa, Regina L Woods, Rif S El-Mallakh
{"title":"Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.","authors":"Jacqueline Alves Leite, Leandro Augusto de Oliveira Barbosa, Regina L Woods, Rif S El-Mallakh","doi":"10.1186/s13023-026-04235-3","DOIUrl":"https://doi.org/10.1186/s13023-026-04235-3","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-03DOI: 10.1186/s13023-026-04242-4
Michaela Henning, Marie Hock, Arim Shukri, Vanessa Löw, Nikolaus Kernich, Jonas Rauterberg, Henning Klapproth, Iliana Tantcheva-Poór
{"title":"Prevalence and management of mental health comorbidities in a German cohort of patients with Ehlers-Danlos syndromes and a generalized hypermobility spectrum disorder.","authors":"Michaela Henning, Marie Hock, Arim Shukri, Vanessa Löw, Nikolaus Kernich, Jonas Rauterberg, Henning Klapproth, Iliana Tantcheva-Poór","doi":"10.1186/s13023-026-04242-4","DOIUrl":"https://doi.org/10.1186/s13023-026-04242-4","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-03DOI: 10.1186/s13023-026-04244-2
Vrinda Saraff, Pedro Arango-Sancho, Justine Bacchetta, Annemieke M Boot, Christine P Burren, Amish Chinoy, Poonam Dharmaraj, Maria Amelia Gómez Llorente, Juan David González Rodríguez, Iva Gueorguieva, Wesley Hayes, Dirk Schnabel, Héctor Ríos Duro, Elin Haf Davies, Sandra Komarzynski, Angela J Rylands, Kerry Sandilands, Haruka Ishii, Angela Williams, Santhani Selveindran, Adele Barlassina, Annabel Bowden, Agnès Linglart
{"title":"Adolescents' experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth.","authors":"Vrinda Saraff, Pedro Arango-Sancho, Justine Bacchetta, Annemieke M Boot, Christine P Burren, Amish Chinoy, Poonam Dharmaraj, Maria Amelia Gómez Llorente, Juan David González Rodríguez, Iva Gueorguieva, Wesley Hayes, Dirk Schnabel, Héctor Ríos Duro, Elin Haf Davies, Sandra Komarzynski, Angela J Rylands, Kerry Sandilands, Haruka Ishii, Angela Williams, Santhani Selveindran, Adele Barlassina, Annabel Bowden, Agnès Linglart","doi":"10.1186/s13023-026-04244-2","DOIUrl":"https://doi.org/10.1186/s13023-026-04244-2","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-31DOI: 10.1186/s13023-026-04233-5
Johannes Boettcher, Thomas Lücke, Holger Zapf, Anne Daubmann, Jonas Denecke, Mathilde Kersting, Hermann Kalhoff, Skadi Beblo, Ricarda Schmidt, Alena Thiele, Sarah Hohmann, Wieland Kiess, Ania C Muntau, Anja Hilbert, Silke Wiegand-Grefe
Background: Children and adolescents with rare diseases represent a population that may be at risk for an avoidant/restrictive food intake disorder (ARFID). This study aimed to quantitatively examine the symptoms of ARFID in a sample of children and adolescents with rare diseases and their association with sociodemographic characteristics, eating disorder psychopathology, health-related quality of life (HRQoL), and mental health.
Methods: In this observational study, data from 309 families of children with rare diseases drawn from a multicenter clinical study were used to estimate the prevalence of ARFID symptoms in children and adolescents aged 8-21 years in Germany was estimated via self-report (n = 169) and parent report (n = 502). Differences between the sample of individuals with rare diseases and normative population data, between those with and without ARFID symptoms, and between subgroups of rare diseases were investigated. Additionally, correlations between eating disorder psychopathology, sociodemographic, and psychosocial variables were investigated.
Results: The prevalence of symptoms of ARFID was relatively high, with a relevant difference between self-report (3.6%) and parent report (10.2%). A vast proportion of self-reported ARFID symptoms were relevantly higher in children and adolescents with rare diseases than in normative population data. Moreover, the presence of ARFID symptoms in both self-report and parent report versions suggests that these symptoms may be consistent across varying severity levels of coexisting rare diseases. Both self-reported and parent reported ARFID symptoms in children and adolescents with rare diseases were associated with impaired HRQoL and mental health.
Conclusion: The study underscores the importance of considering ARFID in children and adolescents with rare diseases. The comorbidity of rare diseases and ARFID may impact clinical care; however, healthcare professionals often lack sufficient knowledge of these patient populations. Therefore, further research and consideration in clinical practice are necessary.
Trial registration: German Clinical Trials Register: DRKS00015859 (registered 18 December 2018) and ClinicalTrials.gov: NCT04339465 (registered 8 April 2020).
{"title":"Prevalence of avoidant/restrictive food intake disorder in children and adolescents with rare diseases.","authors":"Johannes Boettcher, Thomas Lücke, Holger Zapf, Anne Daubmann, Jonas Denecke, Mathilde Kersting, Hermann Kalhoff, Skadi Beblo, Ricarda Schmidt, Alena Thiele, Sarah Hohmann, Wieland Kiess, Ania C Muntau, Anja Hilbert, Silke Wiegand-Grefe","doi":"10.1186/s13023-026-04233-5","DOIUrl":"https://doi.org/10.1186/s13023-026-04233-5","url":null,"abstract":"<p><strong>Background: </strong>Children and adolescents with rare diseases represent a population that may be at risk for an avoidant/restrictive food intake disorder (ARFID). This study aimed to quantitatively examine the symptoms of ARFID in a sample of children and adolescents with rare diseases and their association with sociodemographic characteristics, eating disorder psychopathology, health-related quality of life (HRQoL), and mental health.</p><p><strong>Methods: </strong>In this observational study, data from 309 families of children with rare diseases drawn from a multicenter clinical study were used to estimate the prevalence of ARFID symptoms in children and adolescents aged 8-21 years in Germany was estimated via self-report (n = 169) and parent report (n = 502). Differences between the sample of individuals with rare diseases and normative population data, between those with and without ARFID symptoms, and between subgroups of rare diseases were investigated. Additionally, correlations between eating disorder psychopathology, sociodemographic, and psychosocial variables were investigated.</p><p><strong>Results: </strong>The prevalence of symptoms of ARFID was relatively high, with a relevant difference between self-report (3.6%) and parent report (10.2%). A vast proportion of self-reported ARFID symptoms were relevantly higher in children and adolescents with rare diseases than in normative population data. Moreover, the presence of ARFID symptoms in both self-report and parent report versions suggests that these symptoms may be consistent across varying severity levels of coexisting rare diseases. Both self-reported and parent reported ARFID symptoms in children and adolescents with rare diseases were associated with impaired HRQoL and mental health.</p><p><strong>Conclusion: </strong>The study underscores the importance of considering ARFID in children and adolescents with rare diseases. The comorbidity of rare diseases and ARFID may impact clinical care; however, healthcare professionals often lack sufficient knowledge of these patient populations. Therefore, further research and consideration in clinical practice are necessary.</p><p><strong>Trial registration: </strong>German Clinical Trials Register: DRKS00015859 (registered 18 December 2018) and ClinicalTrials.gov: NCT04339465 (registered 8 April 2020).</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146097379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-31DOI: 10.1186/s13023-026-04217-5
Katrin Jäger, Elke Dannenmann-Stern, Sevda Inbasi, Ute Grasshoff, Christina Vossler-Wolf, Holm Graessner
{"title":"KLINSE: a comprehensive service model for rare disease information and care management support.","authors":"Katrin Jäger, Elke Dannenmann-Stern, Sevda Inbasi, Ute Grasshoff, Christina Vossler-Wolf, Holm Graessner","doi":"10.1186/s13023-026-04217-5","DOIUrl":"https://doi.org/10.1186/s13023-026-04217-5","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146097329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-31DOI: 10.1186/s13023-026-04222-8
Kiera Batten, Nancy Van Doorn, Christopher McManus, Ben Jones, David Simar, Carolyn Broderick, Kaustuv Bhattacharya
{"title":"An exercise intervention in children and young adults with McArdle disease: feasibility, acceptability, and clinical outcomes.","authors":"Kiera Batten, Nancy Van Doorn, Christopher McManus, Ben Jones, David Simar, Carolyn Broderick, Kaustuv Bhattacharya","doi":"10.1186/s13023-026-04222-8","DOIUrl":"https://doi.org/10.1186/s13023-026-04222-8","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146097334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Impact of glycerol phenylbutyrate on biochemistry and outcomes in paediatric patients with urea cycle disorders: a multicentre case series from Saudi Arabia.","authors":"Rawan Hejazi, Thamer H Alghamdi, Rihab Salih, Yousra Naeim, Hamad Althiyab, Talal AlAnzi, Sarar Mohamed, Majid Alfadhel, Ruqaiah Saleh ALTassan, Zuhair N Al-Hassnan, Moeenaldeen AlSayed","doi":"10.1186/s13023-026-04216-6","DOIUrl":"https://doi.org/10.1186/s13023-026-04216-6","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146093681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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