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1. Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Author

Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V., Limongelli, Giuseppe, Iucolano, Stefano, Monda, Emanuele, Elefante, Pasquale, De Stasio, Chiara, Lubrano, Imma, Caiazza, Martina, Mazzella, Marialuisa, Fimiani, Fabio, Galdo, Maria, De Marchi, Giulia, Esposito, Martina, Rubino, Marta, Cirillo, Annapaola, Fusco, Adelaide, Esposito, Augusto, Trama, Ugo, Esposito, Salvatore, Scarano, Gioacchino, Sepe, Joseph, Andria, Generoso, Orlando, Valentina, Menditto, Enrica, Chiodini, Paolo, Iolascon, Achille, Franzese, Adriana, Sanduzzi Zamparelli, Alessandro, Tessitore, Alessandro, Romano, Alfonso, Venosa, Alfredo, Nunzia Olivieri, Alma, Bianco, Andrea, La Manna, Angela, Cerbone, Anna Maria, Spasiano, Anna, Agnese Stanziola, Anna, Colao, Annamaria, De Bellis, Annamaria, Gambale, Antonella, Toriello, Antonella, Tufano, Antonella, Ciampa, Antonio, Maria Risitano, Antonio, Pisani, Antonio, Russo, Antonio, Volpe, Antonio, De Martino, Bernardo, Amato, Bruno, De Fusco, Carmela, Piscopo, Carmelo, Selleri, Carmine, Tucci, Celeste, Pignata, Claudio, Cioffi, Daniela, Melis, Daniela, Pasquali, Daniela, De Brasi, Daniele, Spitaleri, Daniele, De Brasi, Davide, Russo, Domenico, Martellotta, Donata, De Michele, Elisa, Varricchio, Elziario, Miraglia Del Giudice, Emanuele, Coscioni, Enrico, Cimino, Ernesto, Pane, Fabrizio, Tranfa, Fausto, Pollio, Filiberto, Lonardo, Fortunato, Nuzzi, Francesca, Simonelli, Francesca, Trojsi, Francesca, Habetswallner, Francesco, Valentini, Gabriele, Cerbone, Gaetana, Parenti, Giancarlo, Tedeschi, Gioacchino, Capasso, Giovambattista, Battista Rossi, Giovanni, Gaglione, Giovanni, Sarnelli, Giovanni, Argenziano, Giuseppe, Bellastella, Giuseppe, De Michele, Giuseppe, Fiorentino, Giuseppe, Spadaro, Giuseppe, Scala, Iri, Santoro, Lucio, Zeppa, Lucio, Auricchio, Luigi, Elio Adinolfi, Luigi, Alessio, Maria, Amitrano, Maria, Savanelli, Maria Cristina, Russo, Maria Giovanna, Ferrucci, Maria Grazia, Carbone, Maria Teresa, Pellecchia, Maria Teresa, Salerno, Mariacarolina, Melone, Marina, Del Donno, Mario, Vitale, Mario, Triggiani, Massimo, Della Monica, Matteo, Lo Presti, Maurizio, Tenuta, Maurizio, Mignogna, Michele Davide, Schiavulli, Michele, Zacchia, Miriam, Brunetti-Pierri, Nicola, Iovino, Paola, Moscato, Paolo, Iandoli, Raffaele, Scarpa, Raffaele, Russo, Romualdo, Troisi, Salvatore, Sbordone, Sandro, Perrotta, Silverio, Fecarotta, Simona, Sampaolo, Simone, Cicalese, Virgilio, Limongelli, G, Iucolano, S, Monda, E, Elefante, P, De Stasio, C, Lubrano, I, Caiazza, M, Mazzella, M, Fimiani, F, Galdo, M, De Marchi, G, Esposito, M, Rubino, M, Cirillo, A, Fusco, A, Esposito, A, Trama, U, Esposito, S, Scarano, G, Sepe, J, Andria, G, Orlando, V, Menditto, E, Chiodini, P, Campania Rare, Disease, Iolascon, A, Franzese, A, Sanduzzi Zamparelli, A, Tessitore, A, Romano, A, Venosa, A, Nunzia Olivieri, A, Bianco, A, La Manna, A, Cerbone, Am, Spasiano, A, Agnese Stanziola, A, Colao, A, De Bellis, A, Gambale, A, Toriello, A, Tufano, A, Ciampa, A, Maria Risitano, A, Pisani, A, Russo, A, Volpe, A, De Martino, B, Amato, B, De Fusco, C, Piscopo, C, Selleri, C, Tucci, C, Pignata, C, Cioffi, D, Melis, D, Pasquali, D, De Brasi, D, Spitaleri, D, Russo, D, Martellotta, D, De Michele, E, Varricchio, E, Miraglia Del Giudice, E, Coscioni, E, Cimino, E, Pane, F, Tranfa, F, Pollio, F, Lonardo, F, Nuzzi, F, Simonelli, F, Trojsi, F, Habetswallner, F, Valentini, G, Cerbone, G, Parenti, G, Tedeschi, G, Capasso, G, Battista Rossi, G, Gaglione, G, Sarnelli, G, Argenziano, G, Bellastella, G, De Michele, G, Fiorentino, G, Spadaro, G, Scala, I, Santoro, L, Zeppa, L, Auricchio, L, Elio Adinolfi, L, Alessio, M, Amitrano, M, Savanelli, Mc, Russo, Mg, Ferrucci, Mg, Carbone, Mt, Pellecchia, Mt, Salerno, M, Melone, M, Del Donno, M, Vitale, M, Triggiani, M, Della Monica, M, Lo Presti, M, Tenuta, M, Mignogna, Md, Schiavulli, M, Zacchia, M, Brunetti-Pierri, N, Iovino, P, Moscato, P, Iandoli, R, Scarpa, R, Russo, R, Troisi, S, Sbordone, S, Perrotta, S, Fecarotta, S, Sampaolo, S, and Cicalese, V.

Subjects
Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Home therapy, rare diseases, 030204 cardiovascular system & hematology, Campania region, Covid-19, Italy, patient registry, Disease Outbreaks, 03 medical and health sciences, COVID-19 Testing, 0302 clinical medicine, Pandemic, Health care, medicine, Retrospective analysis, Humans, AcademicSubjects/MED00860, Registries, 030212 general & internal medicine, Medical diagnosis, Pandemics, Retrospective Studies, business.industry, Public Health, Environmental and Occupational Health, Outbreak, General Medicine, Original Article, business, Delivery of Health Care, Rare disease
Abstract

Background The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period. Methods To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period. Results Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P Conclusions This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period.

Published
2021
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2. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Author

Maria Angela Losi, Riccardo Alessandro, Maurizio Postorino, Federico Pieruzzi, Paolo Colomba, Sandro Feriozzi, Yuri Battaglia, Andrea Frustaci, Alessandra Testa, Ines Monte, Daniele Masarone, Serafina Sciarrino, Antonello Giordano, Antonio Pisani, Cinzia Castana, Carmine Zoccali, Elisabetta Zachara, Giuseppe Limongelli, Eleonora Riccio, Luisa Amico, Claudio Ferri, Alessandro P. Burlina, Renzo Mignani, Margherita Stefania Rodolico, Rosa Napoletano, Marina Caserta, Carmela Zizzo, Simone Scalia, Marco Spada, Roberta Oliveri, Giuseppe Cammarata, Marco Lombardi, Cristina Chimenti, Daniele Francofonte, Giovanni Duro, Maurizio Tenuta, Giuseppe Palladino, Alberto Burlina, Camillo Autore, Giulia Polo, Maurizio Pieroni, Duro, G., Zizzo, C., Cammarata, G., Burlina, A., Polo, G., Scalia, S., Oliveri, R., Sciarrino, S., Francofonte, D., Alessandro, R., Pisani, A., Palladino, G., Napoletano, R., Tenuta, M., Masarone, D., Limongelli, G., Riccio, E., Frustaci, A., Chimenti, C., Ferri, C., Pieruzzi, F., Pieroni, M., Spada, M., Castana, C., Caserta, M., Monte, I., Rodolico, M. S., Feriozzi, S., Battaglia, Y., Amico, L., Losi, M. A., Autore, C., Lombardi, M., Zoccali, C., Testa, A., Postorino, M., Mignani, R., Zachara, E., Giordano, A., Colomba, P., Duro G., Zizzo C., Cammarata G., Burlina A., Polo G., Scalia S., Oliveri R., Sciarrino S., Francofonte D., Alessandro R., Pisani A., Palladino G., Napoletano R., Tenuta M., Masarone D., Limongelli G., Riccio E., Frustaci A., Chimenti C., Ferri C., Pieruzzi F., Pieroni M., Spada M., Castana C., Caserta M., Monte I., Rodolico M.S., Feriozzi S., Battaglia Y., Amico L., Losi M.A., Autore C., Lombardi M., Zoccali C., Testa A., Postorino M., Mignani R., Zachara E., Giordano A., Colomba P., Duro, G, Zizzo, C, Cammarata, G, Burlina, A, Polo, G, Scalia, S, Oliveri, R, Sciarrino, S, Francofonte, D, Alessandro, R, Pisani, A, Palladino, G, Napoletano, R, Tenuta, M, Masarone, D, Limongelli, G, Riccio, E, Frustaci, A, Chimenti, C, Ferri, C, Pieruzzi, F, Pieroni, M, Spada, M, Castana, C, Caserta, M, Monte, I, Rodolico, M, Feriozzi, S, Battaglia, Y, Amico, L, Losi, M, Autore, C, Lombardi, M, Zoccali, C, Testa, A, Postorino, M, Mignani, R, Zachara, E, Giordano, A, and Colomba, P

Subjects
0301 basic medicine, Proband, Male, Disease, medicine.disease_cause, Sphingolipid, Catalysi, lcsh:Chemistry, 0302 clinical medicine, Gla gene, Fabry disease, GLA gene, LysoGb3, Medicine, Child, lcsh:QH301-705.5, Spectroscopy, chemistry.chemical_classification, Genetics, Allele, Aged, 80 and over, Mutation, Computer Science Applications1707 Computer Vision and Pattern Recognition, General Medicine, Middle Aged, Phenotype, 3. Good health, Computer Science Applications, Child, Preschool, Female, Human, Adult, Adolescent, Genotype, Glycolipid, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Young Adult, otorhinolaryngologic diseases, Humans, Physical and Theoretical Chemistry, Molecular Biology, Gene, Alleles, Aged, Sphingolipids, business.industry, Organic Chemistry, Infant, Newborn, Infant, Biomarker, gla gene, lysogb3, adolescent, adult, aged, aged, 80 and over, alleles, amino acid substitution, biomarkers, child, child, preschool, fabry disease, female, genotype, glycolipids, humans, infant, infant, newborn, male, middle aged, phenotype, sphingolipids, young adult, alpha-galactosidase, mutation, medicine.disease, 030104 developmental biology, Enzyme, chemistry, lcsh:Biology (General), lcsh:QD1-999, Amino Acid Substitution, alpha-Galactosidase, Glycolipids, business, 030217 neurology & neurosurgery, Biomarkers
Abstract

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme &alpha, galactosidase A (&alpha, Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the &alpha, Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder. The accumulation of globotriaosylsphingosine (LysoGb3) was determined in blood of positives. Exonic mutations in the GLA gene were detected in 471 patients (207 Probands and 264 relatives): 71.6% of mutations were associated with the classic phenotype, 19.8% were associated with the late-onset phenotype, and 8.6% of genetic variants were of unknown significance (GVUS). The accumulation of LysoGb3 was found in all male patients with a mutation responsible for classic or late-onset FD. LysoGb3 levels were consistent with the type of mutations and the symptomatology of patients. &alpha, Gal A activity in these patients is absent or dramatically reduced. In recent years, confusion about the pathogenicity of some mutations led to an association between non-causative mutations and FD. Our study shows that the identification of FD patients is possible by associating clinical history, GLA gene analysis, &alpha, Gal A assay, and blood accumulation of LysoGB3. In our experience, LysoGB3 can be considered a reliable marker, which is very useful to confirm the diagnosis of Fabry disease.

Published
2018

3. Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

Author

Andrea Matucci, Marcello Donati, Angela Nicoletti, Francesca Falvo, Maria Domenica Cappellini, Agata Fiumara, Miriam Rigoldi, Rossella Parini, Antonio Pisani, L Amico, Licia Pensabene, M Conti, G. Torti, Elisabetta Zachara, Daniela Concolino, M Maccarone, Elena Cassinerio, Rita Nisticò, Raffaele Manna, Daniele Peluso, I Romani, M Tenuta, Massimiliano Veroux, F. Papadia, M. B Musumeci, Giuseppe Pistone, Concolino, D., Amico, L., Cappellini, M.D., Cassinerio, E., Conti, M., Donati, M.A., Falvo, F., Fiumara, A., Maccarone, M., Manna, R., Matucci, A., Musumeci, M.B., Nicoletti, A., Nisticò, R., Papadia, F., Parini, R., Peluso, D., Pensabene, L., Pisani, A., Pistone, G., Rigoldi, M., Romani, I., Tenuta, M., Torti, G., Veroux, M., Zachara, E., Cappellini, M. D., Donati, M. A., and Musumeci, M. B.

Subjects
0301 basic medicine, Pediatrics, medicine.medical_specialty, QoL, Globotriaosylceramide, 03 medical and health sciences, chemistry.chemical_compound, Collaborative group, 0302 clinical medicine, Endocrinology, Disease severity, Genetic, Genetics, Medicine, 030212 general & internal medicine, lcsh:QH301-705.5, Molecular Biology, lcsh:R5-920, Fabry disease, business.industry, Settore BIO/14, Home treatment, Enzyme replacement therapy, Adherence, medicine.disease, 3. Good health, 030104 developmental biology, lcsh:Biology (General), chemistry, Cohort, article, congenital malformation, enzyme replacement therapy, home treatment, adherence, Observational study, lcsh:Medicine (General), business, Research Paper
Abstract

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa. For the whole cohort, the average duration of home therapy was 1 year and 11 months (range 3 months–4 years and 6 months), and during this period, compliance to treatment (number of infusions performed vs scheduled) reached 100%. The EQ-5 VAS scale was administered to patients to evaluate the self-reported QoL, 58% of patients showing an increase of EQ-5 VAS score at follow up compared to baseline (home treatment start) or remaining stable. A mild increase of average disease severity, measured through Mainz Severity Score Index (MSSI), was found during hospital treatment (p

Published
2017

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