Annalisa Madeo
@gaslini.org
IRCCS Giannina Gaslini
Scopus Publications
- The ‘double hit’ on dalbavancin pharmacokinetics: hypertriglyceridaemia and augmented renal clearance in a child with glycogen storage disease type Ib
Bianca Monti, Erica Ricci, Marcello Mariani, Alessio Mesini, Carolina Saffioti, Alessia Cafaro, Annalisa Madeo, Alessandro La Rosa, Giuliana Cangemi, Elio Castagnola
Journal of Antimicrobial Chemotherapy, 2026 - Nissen fundoplication in infants less than 12 months of age: a single-center experience
Caterina Sacchetti, Michela Cing Yu Wong, Valentina Rossi, Annalisa Madeo, Serena Arrigo, Paolo Gandullia, Stefano Avanzini, Girolamo Mattioli
Updates in Surgery, 2026 - A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review
Francesca Cappozzo, Mariasavina Severino, Elena Gennaro, Francesca Faravelli, Marina Martinez Popple, Maria Cristina Schiaffino, Annalisa Madeo, Alessandro La Rosa
Molecular Genetics and Metabolism Reports, 2025
variant (c.709G>A), affecting a highly conserved transmembrane domain residue and predicted to be pathogenic. Our findings underscore the role of neuroimaging in the early diagnosis of ISSD and suggest a potential link between sialic acid metabolism and erythropoiesis, suggesting further investigation. Despite the lack of targeted therapies, recognizing FSASD remains essential for patient management and genetic counselling, ensuring appropriate clinical care and family support. - Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review
Alessandro La Rosa, Alessia Pepe, Barbara Tappino, Fabio Corsolini, Andrea Chiaro, Annalisa Madeo
Molecular Genetics and Metabolism Reports, 2025
Background: genes. This report presents a particular case of infantile early-onset MLIII-gamma and emphasizes that articular manifestations can be a sign of a metabolic disease rather than a rheumatological or orthopedic one. Case report: gene, confirming MLIII-gamma diagnosis. Despite early onset, the patient exhibited a less severe skeletal phenotype and showed mild cardiac and ocular involvement, occasionally described in classic MLIII-gamma. Discussion: The natural history of MLIII remains poorly understood and mainly based on sporadic case reports/series. Our case presents a typical MLIII-gamma phenotype but with an unexpectedly early onset, expanding the clinical spectrum of this disease. It emphasizes the need for increased awareness among pediatric rheumatologists regarding metabolic disorders. Further case studies are essential to enhance understanding and improve diagnostic and therapeutic approaches for ML. - State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases
Terry G. J. Derks, Ruben J. Overduin, Sarah C. Grünert, Alessandro Rossi, and
Journal of Inherited Metabolic Disease, 2025
Continuous glucose monitoring (CGM) is increasingly used although not officially registered for the management of people living with liver glycogen storage diseases (GSDs). The aims of this study were twofold: (a) to investigate the current experiences of healthcare providers (HCPs), patients, and caregivers using CGM to monitor glucose concentrations in liver GSDs, and (b) to formulate consensus statements. Two web‐based questionnaires were distributed, one for HCPs and one for patients and/or their caregivers. The questionnaires collected data on demographics and epidemiology, current use of CGM, and opinions and statements about CGM in GSDs. For the statements, respondents rated their agreement on a 5‐point Likert scale, and the consensus level was set at 75%. One Hundred Fourteen HCPs (including 87 physicians and 26 dietitians) from 28 countries responded, representing care of approximately 3800 liver GSD patients. Additionally, 148 GSD patients and/or their caregivers from 21 countries responded, mainly representing GSD Ia (n = 50), GSD Ib (n = 56), GSD III (n = 14), and GSD IX (n = 18). The median age to consider starting to use CGM was 6 and 2 months for HCPs and GSD families, respectively. Out of 16 statements common to the two questionnaires, HCPs and patients/caregivers reached consensus on 12 statements in both groups. Use of CGM is considered standard of care by both HCPs and GSD families, but reimbursement of CGM devices is challenging. Compared to diabetes mellitus, CGM should be applied differently in liver GSDs. Consensus guidelines are warranted on the use of CGM in liver GSDs, both in routine healthcare and in clinical trials. - Real-world experience with odevixibat in children with progressive familial intrahepatic cholestasis
Angelo Di Giorgio, Marco Sciveres, Maurizio Fuoti, PierLuigi Calvo, Mara Cananzi, Ana Lleo, Simona Gatti, Giuseppe Indolfi, Annalisa Madeo, Claudia Mandato, Federica Nuti, Chiara Zanchi, Greta Carioli, Arianna Ghirardi, Emanuele Nicastro, Lorenzo D’Antiga
Jhep Reports, 2025
Background & aims: A previously published trial demonstrated that odevixibat is effective in the treatment of cholestatic pruritus of children with progressive familial intrahepatic cholestasis (PFIC). Real-world experience is necessary to confirm the results of registration trials with selective eligibility criteria. We present our 'real-life experience' of the effectiveness and safety of odevixibat in patients with different PFIC subtypes. Methods: We carried out a multicenter prospective study of patients with PFIC treated with odevixibat (40 or escalated to 120 μg/kg/day). Pruritus was assessed by 'Physician Global Impression of Symptom' at baseline and monthly up to 6 months. Serum bile acids (sBA) responders were patients who achieved a reduction in sBA levels ≥70% from baseline (or a value <70 μmol/L) after 6 months; pruritus responders were patients who reported improvement in their pruritus score. Results: <0.001). No serious adverse events were recorded. Conclusions: Odevixibat is effective and safe in reducing sBA levels and improving pruritus in a real-life scenario in both patients with classic PFIC types and in those with other rarer subtypes. Dose escalation is required in some patients to improve the response to treatment. Impact and implications: Published data on the use of odevixibat in a real-world scenario are lacking. We explored the effectiveness of odevixibat in a heterogenous cohort of children diagnosed with PFIC (including patients with classic as well as rarer types of PFIC, and with advanced liver disease and associated comorbidities). Our results demonstrate that odevixibat is effective for the treatment of cholestasis and pruritus in children with different PFIC subtypes in a real-life scenario. These results support the use of odevixibat in children with any type of PFICs, including those with different stages of liver disease and comorbidities. - Diagnosis and management of sclerosing cholangitis and inflammatory bowel disease in children: A survey by SIGENP
Matteo Bramuzzo, Fabiola Di Dato, Flavio Labriola, Luca Scarallo, Giovanna Zambrano, Claudia Mandato, Marina ALOI, Tommaso ALTERIO, Serena ARRIGO, Claudia BANZATO, Mara CANANZI, Sabrina CARDILE, Rosaria CELANO, Elvira DI FRANCISCA, Angelo DI GIORGIO, Natale DODARO, Federica FERRARI, Ruggiero FRANCAVILLA, Maurizio Giuseppe FUOTI, Francesco GRAZIANO, Maria Teresa ILLICETO, Giuseppe INDOLFI, Silvia IULIANO, Chiara LUINI, Annalisa MADEO, Martina MAINETTI, Antonio MARSEGLIA, Stefano MARTELOSSI, Massimo MARTINELLI, Giulia PAOLELLA, Elena Sofia PIERI, Michele PINON, Antonio PIZZOL, Naire SANSOTTA, Francesca SBRAVATI, Marco SCIVERES, Giovanna ZUIN
Digestive and Liver Disease, 2025 - Dieulafoy's duodenal lesion in an infant with leukaemia: A rare cause of gastrointestinal bleeding
Enrico Drago, Paolo Gandullia, Luca Arcuri, Erika Massaccesi, Alessandro La Rosa, Andrea Chiaro, Annalisa Madeo, Serena Arrigo
Journal of Paediatrics and Child Health, 2024
The endoscopic findings were suggestive of duodenum Dieulafoy's lesion (DL). We performed successful haemostasis by administering epinephrine injections and subsequent thermal coagulation with argon plasma. Repeat endoscopy 5 days later exhibited no signs of complications or rebleed. The infant was able to continue chemotherapy without recurrence of symptoms. DL of the duodenum is an extremely rare but potentially life-threatening cause of gastrointestinal bleeding in infants and children.1, 2 The lesion consists of the submucosal, abnormally large arterial vessel eroding overlying gastrointestinal mucosa in absence of either underlying ulcer or local aneurysm.3 This case emphasises how rare lesions such as DL should be carefully excluded and treated by paediatric gastroenterologists, as well as more common causes of bleeding in haematologic paediatric patients. - Non-interventional, 5-year retrospective data of home parenteral nutrition in patients with benign chronic intestinal failure: Analysis of an Italian nurse registry (SERECARE II)
Francesco William Guglielmi, Antonella Diamanti, Paolo Gandullia, Umberto Aimasso, Serena Arrigo, Teresa Capriati, Domenica Elia, Mariacristina Guidetti, Antonella Lezo, Annalisa Madeo, Silvia Mazzuoli, Fabio Dario Merlo, Nunzia Regano, Anna Simona Sasdelli, Loris Pironi, Antonella De Francesco
Nutrition, 2024
OBJECTIVE: This study is an assessment of home parenteral nutrition service performance and safety and efficacy outcomes in patients with benign chronic intestinal failure. METHODS: This is a retrospective, non-interventional, and multicenter study. Data were collected by trained nurses and recorded in a dedicated registry (SERECARE). RESULTS: From January 1, 2013 to June 30, 2018, data from a total of 683 patients with benign chronic intestinal failure were entered in the registry. Patients included 208 pediatric (53.8% male; median age = 4.0 y) and 475 adult (47.6% male; median age = 59.0 y) participants. On average, patients were visited 5.4 ± 4.5 times and received 1.4 ± 0.8 training sessions. Retraining was not common and mostly due to change of therapy or change of caregiver. Of 939 complications, 40.9% were related to the central venous catheter and were mostly infectious (n = 182) and mechanical (n = 187). The rate of infectious and mechanical complications per 1000 catheter days decreased over 5 y (0.30-0.15 and 0.33 -0.19, respectively). The rate of complications per 1000 catheter days and the mean complications per patient were higher in pediatric than in adult patients. The hospitalization rate was 1.01 per patient throughout the study period. These data were similar to those registered in a previous study period (2002-2011) (n = 1.53 per patient). Changes over time in the efficacy variables were mostly small and non-significant. CONCLUSIONS: This study confirms the importance of setting up and maintaining structured registries to monitor and improve home parenteral nutrition care. Safety outcomes have improved over the years, most likely due to the underlying efficient nursing service. - Health-related quality of life in children with coeliac disease and in their families: A long-term follow-up study
Marco Crocco, Federica Malerba, Angela Calvi, Noemi Zampatti, Paolo Gandullia, Annalisa Madeo, Barbara Tappino, Stefania Proietti, Stefano Bonassi
Journal of Pediatric Gastroenterology and Nutrition, 2024
ObjectivesThe aim of the study was to assess long‐term health‐related quality of life (HRQoL) in children and adolescents with coeliac disease (CD), and their parents.MethodsWe re‐evaluated prospectively the HRQoL and clinical characteristics of 80 families, assessed 5 years earlier, using a disease‐specific questionnaire, the CD Dutch Questionnaire (CDDUX), and a generic questionnaire, the Paediatric Quality of Life Inventory (PedsQL).ResultsAfter a 10‐year follow‐up, there was no significant change in the total CDDUX and PedsQL scores in children and their parents when compared to the evaluation conducted 5 years earlier. The total CDDUX score reflected a neutral QoL, while for the generic PedsQL was good‐very good. The only significant decrease after 5 years was the PedsQL subdomain Emotional functioning. Patients who admitted voluntarily eating gluten reported lower score in CDDUX Diet. Lower scores in subdomain “Physical functioning” (PedsQL) were reported in patients with positivity of TTG or associated diseases.ConclusionsThe CDDUX score indicated a consistently stable and neutral QoL perception among coeliac patients and caregivers, even after 10‐year postdiagnosis, suggesting minimal fluctuations in the impact of CD on disease‐specific health domains over time. Furthermore, the consistently good PedsQL score could be a reflection of the resilience of coeliac families in coping with this chronic condition. Gluten‐free diet compliance was confirmed to be determinant of HRQoL in the long term. The study confirms the importance of extending surveillance on these patients, possibly using different questionnaires, to assess QoL from different perspectives. - Garetosmab in fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial
Maja Di Rocco, Eduardo Forleo-Neto, Robert J. Pignolo, Richard Keen, Philippe Orcel, Thomas Funck-Brentano, Christian Roux, Sami Kolta, Annalisa Madeo, Judith S. Bubbear, Jacek Tabarkiewicz, Małgorzata Szczepanek, Javier Bachiller-Corral, Angela M. Cheung, Kathryn M. Dahir, Esmée Botman, Pieter G. Raijmakers, Mona Al Mukaddam, Lianne Tile, Cynthia Portal-Celhay, Neena Sarkar, Peijie Hou, Bret J. Musser, Anita Boyapati, Kusha Mohammadi, Scott J. Mellis, Andrew J. Rankin, Aris N. Economides, Dinko Gonzalez Trotter, Gary A. Herman, Sarah J. O’Meara, Richard DelGizzi, David M. Weinreich, George D. Yancopoulos, E. Marelise W. Eekhoff, Frederick S. Kaplan
Nature Medicine, 2023 - Italian children seem to be spared from the mysterious severe acute hepatitis outbreak: A report by SIGENP Acute Hepatitis Group
Fabiola Di Dato, Angelo Di Giorgio, Claudia Mandato, Giuseppe Maggiore, Raffaele Iorio, Marina Aloi, Roberto Antonucci, Claudia Banzato, Valentina Buccella, Pier Luigi Calvo, Angelo Campanozzi, Mara Cananzi, Simonetta Cherubini, Fernanda Cristofori, Lorenzo D’Antiga, Marco Deganello Saccomani, Anna De Giorgi, Valeria Dell’Omo, Federica Ferrari, Ruggiero Francavilla, Maurizio Giuseppe Fuoti, Paola Gaio, Francesco Graziano, Giuseppe Indolfi, Ramona Inferrera, Annalisa Madeo, Alessio Mesini, Fulvio Moramarco, Valentina Motta, Barbara Parma, Michele Pinon, Silvia Provera, Giusy Ranucci, Anna Tulone, Piero Valentini, Silvio Veraldi, Antonietta Villirillo
Journal of Hepatology, 2022 - Different renal manifestations associated with very early onset pediatric inflammatory bowel disease: case report and review of literature
A. Angeletti, S. Arrigo, A. Madeo, M. Molteni, E. Vietti, L. Arcuri, M. C. Coccia, P. Gandullia, G. M. Ghiggeri
BMC Nephrology, 2021 - Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
Fabio Pettinato, Giovanni Mostile, Roberta Battini, Diego Martinelli, Annalisa Madeo, Elisa Biamino, Daniele Frattini, Domenico Garozzo, Serena Gasperini, Rossella Parini, Fabio Sirchia, Giuseppe Sortino, Luisa Sturiale, Gert Matthijs, Amelia Morrone, Maja Di Rocco, Renata Rizzo, Jaak Jaeken, Agata Fiumara, Rita Barone
Cerebellum, 2021 - Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease
Maurizio Miano, Annalisa Madeo, Enrico Cappelli, Federica Lanza, Tiziana Lanza, Marina Stroppiano, Paola Terranova, Roberta Venè, Jack J.H. Bleesing, Maja Di Rocco
Journal of Allergy and Clinical Immunology in Practice, 2020 - COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap
Silvia Morlino, Lucia Micale, Marco Ritelli, Marianne Rohrbach, Nicoletta Zoppi, Anthony Vandersteen, Sara Mackay, Emanuele Agolini, Dario Cocciadiferro, Erina Sasaki, Annalisa Madeo, Alessandro Ferraris, Willie Reardon, Maja Di Rocco, Antonio Novelli, Paola Grammatico, Fransiska Malfait, Tommaso Mazza, Alan Hakim, Cecilia Giunta, Marina Colombi, Marco Castori
Clinical Genetics, 2020 - Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency
Annalisa Madeo, Maja Di Rocco, Anaïs Brassier, Nadia Bahi-Buisson, Pascale De Lonlay, Irène Ceballos-Picot
Molecular Genetics and Metabolism, 2019 - Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability
D. Tolomeo, A. Rubegni, M. Severino, F. Pochiero, C. Bruno, D. Cassandrini, A. Madeo, S. Doccini, M. Pedemonte, A. Rossi, F. D'Amore, M.A. Donati, M. Di Rocco, F.M. Santorelli, C. Nesti
Journal of the Neurological Sciences, 2019 - Mucopolysaccharidoses: Early diagnostic signs in infants and children
Cinzia Galimberti, Annalisa Madeo, Maja Di Rocco, Agata Fiumara
Italian Journal of Pediatrics, 2018 - Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation
M. Di Rocco, M. Rusmini, F. Caroli, A. Madeo, M. Bertamino, G. Marre-Brunenghi, I. Ceccherini
Clinical Genetics, 2018 - The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature
Annalisa Madeo, Alberto Garaventa, Angela Rita Sementa, Chiara Suffia, Maja Di Rocco
Blood Cells Molecules and Diseases, 2018 - Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini
Orphanet Journal of Rare Diseases, 2018 - Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception
Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A. Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth
Plos Genetics, 2016 - Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease
Maja Di Rocco, Rita Barone, Annalisa Madeo, Agata Fiumara
Pediatric Neurology, 2015 - Long-term outcome of a successful cord blood stem cell transplant in mevalonate kinase deficiency
Stefano Giardino, Edoardo Lanino, Giuseppe Morreale, Annalisa Madeo, Maja Di Rocco, Marco Gattorno, Maura Faraci
Pediatrics, 2015 - Whole-body MRI in the assessment of disease activity in juvenile dermatomyositis
Clara Malattia, Maria Beatrice Damasio, Annalisa Madeo, Angela Pistorio, Anna Providenti, Silvia Pederzoli, Stefania Viola, Antonella Buoncompagni, Chiara Mattiuz, Agnese Beltramo, Alessandro Consolaro, Angelo Ravelli, Nicolino Ruperto, Paolo Picco, Gian Michele Magnano, Alberto Martini
Annals of the Rheumatic Diseases, 2014 - MRI versus conventional measures of disease activity and structural damage in evaluating treatment efficacy in juvenile idiopathic arthritis
C Malattia, A Consolaro, S Pederzoli, A Madeo, A Pistorio, M Mazzoni, C Mattiuz, GM Magnano, S Viola, A Buoncompagni, E Palmisani, R Hasija, N Ruperto, A Ravelli, A Martini
Annals of the Rheumatic Diseases, 2013 - Novel automated system for magnetic resonance imaging quantification of the inflamed synovial membrane volume in patients with juvenile idiopathic arthritis
C. Malattia, M. B. Damasio, C. Basso, M. Santoro, A. Verri, S. Pederzoli, C. Mattiuz, S. Viola, A. Buoncompagni, A. Madeo, M. Mazzoni, K. Rosendahl, K. Lambot-Juhan, L. Tanturri de Horatio, G. M. Magnano, A. Ravelli, A. Martini
Arthritis Care and Research, 2012 - Early miglustat therapy in infantile Niemann-Pick disease type C
Maja Di Rocco, Andrea Dardis, Annalisa Madeo, Rita Barone, Agata Fiumara
Pediatric Neurology, 2012
