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  • 1.
    Alanay, Yasemin
    et al.
    Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Kayisdagi Cad. No:32, Atasehir, 34684, Istanbul, Turkey.
    Mohnike, Klaus
    Department of Pediatrics, Otto-von-Guericke-University, Magdeburg, Germany.
    Nilsson, Ola
    Örebro University, School of Medical Sciences. Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institute and University Hospital, Stockholm, Sweden; Department of Medical Sciences, Örebro University, Örebro, Sweden; Department of Pediatrics, Örebro University Hospital, Örebro, Sweden.
    Alves, Inês
    ANDO Portugal, Évora, Portugal.
    AlSayed, Moeenaldeen
    Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
    Appelman-Dijkstra, Natasha M.
    Department of Internal Medicine, Division Endocrinology and Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
    Baujat, Genevieve
    Hôpital Necker Enfants Malades AP-HP, Paris, France.
    Ben-Omran, Tawfeg
    Genetic and Genomic Medicine Division, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar.
    Breyer, Sandra
    Department of Paediatrics, UKE Hamburg-Eppendorf, Hamburg, Germany.
    Cormier-Daire, Valerie
    Hôpital Necker Enfants Malades AP-HP, Paris, France; Reference Center for Skeletal Dysplasia, Imagine Institute, Paris Cité University, Paris, France.
    Gregersen, Pernille Axél
    Department of Clinical Genetics and Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
    Guillén-Navarro, Encarna
    Medical Genetics Section, Department of Paediatrics, Virgen de la Arrixaca University Clinical Hospital, IMIB-Arrixaca, Faculty of Medicine, University of Murcia (UMU), Murcia, Spain.
    Högler, Wolfgang
    Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
    Maghnie, Mohamad
    Department of Paediatrics, IRCCS Istituto Giannna Gaslini, Genoa, Italy; Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child-Health, University of Genova, Genoa, Italy.
    Mukherjee, Swati
    BioMarin (UK) Limited, London, UK.
    Cohen, Shelda
    BioMarin (UK) Limited, London, UK.
    Pimenta, Jeanne
    BioMarin (UK) Limited, London, UK.
    Selicorni, Angelo
    Pediatric Unit ASST Lariana, Mariani Center for Fragile Child, Como, Italy.
    Semler, J. Oliver
    Faculty of Medicine, University of Cologne, Cologne, Germany; Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
    Sigaudy, Sabine
    Département de Génétique Médicale, Hôpital Timone Enfant, Marseille, France.
    Popkov, Dmitry
    National Ilizarov Research Center for Traumatology and Orthopaedics, Kurgan, Russia.
    Sabir, Ian
    BioMarin (UK) Limited, London, UK.
    Noval, Susana
    Fundación ALPE Acondroplasia, Asturias, Spain.
    Sessa, Marco
    Associazione per I'Informazione e lo Studio dell'Acondroplasia (AISAC), Milan, Italy.
    Irving, Melita
    Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK.
    Real-world evidence in achondroplasia: considerations for a standardized data set2023In: Orphanet Journal of Rare Diseases, E-ISSN 1750-1172, Vol. 18, no 1, article id 166Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, and that captures long-term, high-quality data, would improve understanding of the natural history of achondroplasia, quality of life, and related outcomes.

    METHODS: The Europe, Middle East, and Africa (EMEA) Achondroplasia Steering Committee comprises a multidisciplinary team of 17 clinical experts and 3 advocacy organization representatives. The committee undertook an exercise to identify essential data elements for a standardized prospective registry to study the natural history of achondroplasia and related outcomes.

    RESULTS: A range of RWE on achondroplasia is being collected at EMEA centres. Whereas commonalities exist, the data elements, methods used to collect and store them, and frequency of collection vary. The topics considered most important for collection were auxological measures, sleep studies, quality of life, and neurological manifestations. Data considered essential for a prospective registry were grouped into six categories: demographics; diagnosis and patient measurements; medical issues; investigations and surgical events; medications; and outcomes possibly associated with achondroplasia treatments.

    CONCLUSIONS: Long-term, high-quality data are needed for this rare, multifaceted condition. Establishing registries that collect predefined data elements across age spans will provide contemporaneous prospective and longitudinal information and will be useful to improve clinical decision-making and management. It should be feasible to collect a minimum dataset with the flexibility to include country-specific criteria and pool data across countries to examine clinical outcomes associated with achondroplasia and different therapeutic approaches.

  • 2.
    Ariceta, Gema
    et al.
    Department of Pediatric Nephrology, Hospital Vall d'Hebron, Universitat Autonoma Barcelona, Barcelona, Spain.
    Beck-Nielsen, Signe Sparre
    Centre for Rare Diseases, Aarhus University Hospital, Åarhus, Denmark; Department of Clinical Medicine, Aarhus University, Åarhus, Denmark.
    Boot, Annemieke M.
    Department of Pediatrics, Division of Endocrinology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
    Brandi, Maria Luisa
    FIRMO Foundation, Florence, Italy; Donatello Bone Clinic, Florence, Italy.
    Briot, Karine
    Hôpital Cochin, Service de Rhumatologie, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate Filière OSCAR, AP-HP, Paris, France.
    de Lucas Collantes, Carmen
    Universidad Autónoma de Madrid, Madrid, Spain; Hospital Infantili Niño Jesús, Madrid, Spain.
    Emma, Francesco
    Division of Nephrology, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy.
    Giannini, Sandro
    Department of Medicine, Clinica Medica 1, University of Padova, Padua, Italy.
    Haffner, Dieter
    Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
    Keen, Richard
    Royal National Orthopaedic Hospital, Stanmore, UK.
    Levtchenko, Elena
    Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
    Mӓkitie, Outi
    Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
    Mughal, M. Zulf
    Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital's NHS Trust, Manchester, UK.
    Nilsson, Ola
    Örebro University, School of Medical Sciences. Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden; School of Medical Sciences and Department of Pediatrics, University Hospital, Örebro, Sweden.
    Schnabel, Dirk
    Center for Chronically Sick Children, Pediatric Endocrinology, Charité, University Medicine Berlin, Berlin, Germany.
    Tripto-Shkolnik, Liana
    Division of Endocrinology, Diabetes and Metabolism, Chaim Sheba Medical Center, Tel Hashomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
    Liu, Jonathan
    Kyowa Kirin International, Marlow, UK.
    Williams, Angela
    Kyowa Kirin International, Marlow, UK.
    Wood, Sue
    Kyowa Kirin International, Marlow, UK.
    Zillikens, M. Carola
    Bone Center, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data2023In: Orphanet Journal of Rare Diseases, E-ISSN 1750-1172, Vol. 18, no 1, article id 304Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which can adversely affect outcomes. As a chronic disease resulting in progressive accumulation of musculoskeletal manifestations, it is important to understand the natural history of XLH over the patient's lifetime and the impact of drug treatments and other interventions. This multicentre, international patient registry (International XLH Registry) was established to address the paucity of these data. Here we present the findings of the first interim analysis of the registry.

    RESULTS: The International XLH Registry was initiated in August 2017 and includes participants of all ages diagnosed with XLH, regardless of their treatment and management. At the database lock for this first interim analysis (29 March 2021), 579 participants had entered the registry before 30 November 2020 and are included in the analysis (360 children [62.2%], 217 adults [37.5%] and 2 whose ages were not recorded [0.3%]; 64.2% were female). Family history data were available for 319/345 (92.5%) children and 145/187 (77.5%) adults; 62.1% had biological parents affected by XLH. Genetic testing data were available for 341 (94.7%) children and 203 (93.5%) adults; 370/546 (67.8%) had genetic test results; 331/370 (89.5%) had a confirmed PHEX mutation. A notably longer time to diagnosis was observed in adults ≥ 50 years of age (mean [median] duration 9.4 [2.0] years) versus all adults (3.7 [0.1] years) and children (1.0 [0.2] years). Participants presented with normal weight, shorter length or height and elevated body mass index (approximately - 2 and + 2 Z-scores, respectively) versus the general population. Clinical histories were collected for 349 participants (239 children and 110 adults). General data trends for prevalence of bone, dental, renal and joint conditions in all participants were aligned with expectations for a typical population of people with XLH.

    CONCLUSION: The data collected within the International XLH Registry, the largest XLH registry to date, provide substantial information to address the paucity of natural history data, starting with demographic, family history, genetic testing, diagnosis, auxology and baseline data on clinical presentation.

  • 3.
    Beck-Nielsen, Signe Sparre
    et al.
    Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
    Mughal, Zulf
    Royal Manchester Children's Hospital, Manchester, UK.
    Haffner, Dieter
    Hannover Medical School, Hannover, Germany.
    Nilsson, Ola
    Örebro University, School of Medical Sciences. Karolinska Institutet, Stockholm, Sweden .
    Levtchenko, Elena
    Katholieke Universiteit Leuven, Leuven, Belgium.
    Ariceta, Gema
    Hospital Universitario Materno-Infantil Vall d'Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain.
    de Lucas Collantes, Carmen
    Hospital Niño Jesús, Madrid, Spain.
    Schnabel, Dirk
    University Children's Hospital of Berlin, Berlin, Germany.
    Jandhyala, Ravi
    Medialis Ltd, Banbury, UK.
    Mäkitie, Outi
    Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
    FGF23 and its role in X-linked hypophosphatemia-related morbidity2019In: Orphanet Journal of Rare Diseases, E-ISSN 1750-1172, Vol. 14, no 1, article id 58Article, review/survey (Refereed)
    Abstract [en]

    BACKGROUND: X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. Patients with XLH present with elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the aforementioned manifestations of the disease. Elevated FGF23 has also been observed in many other diseases of hypophosphatemia, and a range of animal models have been developed to study these diseases, yet the role of FGF23 in the pathophysiology of XLH is incompletely understood.

    METHODS: The role of FGF23 in the pathophysiology of XLH is here reviewed by describing what is known about phenotypes associated with various PHEX mutations, animal models of XLH, and non-nutritional diseases of hypophosphatemia, and by presenting molecular pathways that have been proposed to contribute to manifestations of XLH.

    RESULTS: The pathophysiology of XLH is complex, involving a range of molecular pathways that variously contribute to different manifestations of the disease. Hypophosphatemia due to elevated FGF23 is the most obvious contributor, however localised fluctuations in tissue non-specific alkaline phosphatase (TNAP), pyrophosphate, calcitriol and direct effects of FGF23 have been observed to be associated with certain manifestations.

    CONCLUSIONS: By describing what is known about these pathways, this review highlights key areas for future research that would contribute to the understanding and clinical treatment of non-nutritional diseases of hypophosphatemia, particularly XLH.

  • 4.
    Hammarsten, Ola
    et al.
    Laboratory of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Laboratory Medicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
    Lyytikäinen, Anna
    Laboratory of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Thunström, Sofia
    Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Internal Medicine and Clinical Nutrition, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden.
    Ek, Torben
    Children's Cancer Centre, Queen Silvia Children's Hospital, Gothenburg, Sweden.
    Fasth, Anders
    Department of Pediatrics, Institution of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Ekwall, Olov
    Department of Pediatrics, Institution of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Rheumatology and Inflammation Research, Gothenburg University, Gothenburg, Sweden.
    Cajander, Sara
    Örebro University, School of Medical Sciences. Department of Infectious Diseases.
    Borgström, Emilie Wahren
    Department of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Huddinge, Stockholm, Sweden; Division of Infectious Diseases, Department of Medicine, Karolinska Institutet, Solna, Stockholm, Sweden.
    Smith, C. I. Edvard
    Department of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Huddinge, Stockholm, Sweden; Department of Laboratory Medicine, Karolinska Institutet, Huddinge, Sweden.
    Johansson, Pegah
    Laboratory of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Laboratory Medicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
    Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects2022In: Orphanet Journal of Rare Diseases, E-ISSN 1750-1172, Vol. 17, no 1, article id 50Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: DNA repair deficiency disorders are rare inherited diseases arising from pathogenic (disease-causing) variants in genes involved in DNA repair. There are no standardized diagnostic assays for the investigation of pathological significance of unknown variants in DNA repair genes. We hypothesized that our assays for measuring in vitro patient blood cell hypersensitivity to DNA-damaging agents can be used to establish the pathological significance of unknown variants in DNA repair genes. Six patients with variants in the DNA repair genes PRKDC (two siblings), DCLRE1C (two siblings), NBN, and MSH6 were included. Here, we used the cell division assay (CDA) and the γ-H2AX assay, which were both developed and clinically validated by us, to measure patient cell hypersensitivity in response to ionizing radiation, mitomycin C, cytarabine and doxorubicin.

    RESULTS: Radiation hypersensitivity was detected in the two patients with variants in the PRKDC gene (p < 0.0001 for both at 3.5 Gy), and the two patients with DCLRE1C variants (p < 0.0001 at 3.5 Gy for sibling 1 and p < 0.0001 at 1 Gy for sibling 2). The cells from the patients with the PRKDC variant were also deficient in removing γ-H2AX (p < 0.001). The cells from the patient with variants in the NBN gene were hypersensitive to mitomycin C (p = 0.0008) and deficient in both induction and removal of γ-H2AX in response to radiation.

    CONCLUSIONS: The combination of the CDA and the γ-H2AX assay is useful in investigating the significance of unknown variants in some DNA repair genes.

  • 5.
    Padidela, Raja
    et al.
    Royal Manchester Children’s Hospital and Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
    Nilsson, Ola
    Örebro University, School of Medical Sciences. Karolinska Institutet, Stockholm, Sweden.
    Makitie, Outi
    Children's Hospital, Pediatric Research Center, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.
    Beck-Nielsen, Signe
    Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
    Ariceta, Gema
    Hospital Vall d'Hebron, Universitat Autonoma Barcelona, Barcelona, Spain.
    Schnabel, Dirk
    Center for Chronic Sick Children, Pediatric Endocrinology, Charité, University Medicine Berlin, Berlin, Germany.
    Brandi, Maria Luisa
    University of Florence, Florence, Italy.
    Boot, Annemieke
    University of Groningen, Groningen, Netherlands.
    Levtchenko, Elena
    University Hospitals Leuven, KULeuven, Leuven, Belgium.
    Smyth, Michael
    Kyowa Kirin International, Galashiels, United Kingdom.
    Jandhyala, Ravi
    Medialis Ltd, Banbury Oxford, United Kingdom.
    Mughal, Zulf
    Royal Manchester Children’s Hospital and Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
    The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study2020In: Orphanet Journal of Rare Diseases, E-ISSN 1750-1172, Vol. 15, no 1, article id 172Article in journal (Refereed)
    Abstract [en]

    Background: X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. Excess FGF23 activity leads to increased phosphate excretion in the kidneys - mediated by downregulation of renal tubular phosphate transporters - and reduced phosphate absorption in the intestines - due to impaired vitamin D activation. This results in impaired bone growth and mineralisation, short and disproportionate stature, leg bowing, musculoskeletal pain, spontaneous dental abscesses, rickets, and osteomalacia. The spectrum of manifestations differs between paediatric and adult patients. Those involved in the treatment of this condition face many challenges, including a lack of robust natural history and demographic data. This multicentre, international, rare-disease patient registry (XLH Registry) was established to address the paucity of data in XLH and to help inform future clinical practice.

    Results: The XLH Registry collects standard diagnostic and monitoring practice data, including (where applicable) diagnosis and disease progression history, treatment regimens and family history; the protocol does not mandate any interventions or clinical assessments. The XLH Registry aims to recruit 1200 paediatric and adult patients with XLH over 10 years, and several data analyses and peer-reviewed publications are expected to be generated throughout this period. A post-authorisation safety study for Bburosumab, for which the registry Sponsor is the marketing authorisation holder, will be nested as a sub-study within the XLH Registry via a subsequent protocol amendment.

    Conclusion: The data collected within this rare-disease patient registry will be utilised to synthesise real-world evidence to inform the management of XLH, to improve the quality of life and standard of care of patients living with this rare debilitating disease.

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