Catalogo dei Corsi di studio

CURRICULUM VITAE
Francesca NARDECCHIA

Date of birth: May 29th, 1983
Nationality: Italian
Email: francesca.nardecchia@uniroma1.it

CURRENT POSITION

15 July 2021 today Assistant Professor in Child and Adolescent Neurology and Psychiatry at Sapienza, University of Rome, Department of Human Neuroscience and medical director at Policlinico Umberto I, University Hospital, via dei Sabelli 108, 00181 Rome.

EDUCATION

Nov. 2017 February 2021 PhD Degree in Clinical/Experimental Neuroscience and Psychiatry, Department of Human Neuroscience, Child Neurology and Psychiatry Institute, Sapienza, University of Rome. Supervisor: Prof. Vincenzo Leuzzi

Nov. 2013 February 2017 PhD Degree in Pharmacology, Department of Physiology and Pharmacology, Sapienza, University of Rome. Supervisor: Prof. Ferdinando Nicoletti

July 2009 June 2014 Specialization in Child and Adolescent Neurology and Psychiatry at Sapienza, University of Rome, Department of Pediatrics and Child Neurology and Psychiatry - Policlinico Umberto I, University Hospital. Final grade: 70/70 summa cum laude. Graduation thesis: The role of biogenic amine/monoamine neurotransmitters in the physiopathology of phenylketonuria (PKU) . Advisor: Prof. Vincenzo Leuzzi

February 2009 Professional Qualification of Medical Doctor at Sapienza, University of Rome

September 2002 July 2008 Medical Doctor Degree at Sapienza, University of Rome. Final grade: 110/110 summa cum laude. Graduation thesis: The neurodevelopmental hypothesis of early onset schizophrenia: changes in Wnt/GSK-3 / -catenin cascade. Advisors: Prof. Teresa I. Carratelli, Prof. Ferdinando Nicoletti

PROFESSIONAL EXPERIENCE

March 2020 July 2021 Medical director in Child and Adolescent Neurology and Psychiatry at Policlinico Umberto I, University Hospital (Sapienza, University of Rome), via dei Sabelli 108, 00181 Rome (Permanent full-time employment).

May 2017 February 2020 Medical director in Child and Adolescent Neurology and Psychiatry at Policlinico Umberto I, University Hospital (Sapienza, University of Rome), Via dei Sabelli 108, 00181 Rome (Temporary full-time employment)

June 2016 April 2017 Freelance employment as consultant in Child and Adolescent Neurology and Psychiatry at Policlinico Umberto I, University Hospital (Sapienza, University of Rome), for the project New approaches in early diagnosis and treatment for children with neurogenetic and metabolic diseases , Via dei Sabelli 108, 00181 Rome (Full-time)

April 2015 April 2016 Freelance employment as consultant in Child and Adolescent Neurology and Psychiatry at ARMONIA, rehabilitation centre accredited and affiliated with the national health system, Via Piave Km. 69, 04100 Latina (40 h/month)

January 2015 March 2015 Freelance employment as consultant in Child and Adolescent Neurology and Psychiatry at Casa di Cura INI S.p.A. Unipersonale Divisione Medicus, rehabilitation centre accredited and affiliated with the national health system, P.le San Giovanni di Dio, snc 00019 Tivoli (RM) (10 h/month)

November 2014 March 2015 Freelance employment as consultant in Child and Adolescent Neurology and Psychiatry at VILLA ALBA, rehabilitation centre accredited and affiliated with the national health system, Via Nomentana 432, 00012 Fonte Nuova (RM) (40 h/month)

RESEARCH EXPERIENCE

Nov. 2013 February 2017 Study of metabotropic glutamate receptors in a mouse model of intellectual disability (PhD project). Department of Human Physiology and Pharmacology at Sapienza, University of Rome. Advisor: Prof. Ferdinando Nicoletti

Oct. 2015 September 2016 Research Fellowship on the effect of BH4 on biogenic amine peripheral metabolism and cognitive functions in Phenylketonuric patients. Department of Psychology, Sapienza, University of Rome. Advisor: Prof. Stefano Puglisi-Allegra

Oct. 2014 September 2015 Research Fellowship on the cognitive functions in early treated Phenylketonuric patients. Department of Pediatrics and Child Neurology and Psychiatry, Sapienza, University of Rome. Advisor: Prof. Vincenzo Leuzzi

Sept. 2011 August 2012 Molecular basis of the interallelic complementation of Phenylanaline Hydroxylase and its impact on phenotype-genotype correlation in Phenylketonuric patients. Department of Inborn Errors of Metabolism (Research Laboratory of Molecular Pediatrics) at Dr. von Hauner Children s Hospital, in Munich, Germany. Advisor: Prof. Ania C. Muntau

January 2006 July 2008 Molecular biology survey on nuclear, cytoplasmatic and serum molecular markers expressed in adolescents suffering from early onset schizophrenia (MD thesis project). Department of Human Physiology and Pharmacology at La Sapienza, University of Rome. Advisor: Prof. Ferdinando Nicoletti

CLINICAL TRIALS EXPERIENCE

January 2014 ongoing Merck Serono Protocoll EMR 700773-002: A Phase IV Open-Label, Single-Cohort Study of the Long-Term Neurocognitive Outcomes in 4 to 5 Year-old Children with Phenylkenonuria Treated with Sapropterin Dihydrochloride (Kuvan®) for 7 Years (KOGNITO)

August 2011 May 2017 Merck Serono Protocoll EMR700773-003: A Phase IIIb, Multicentre, Open-Label, Randomized, Controlled Study of the Efficacy, Safety, and Population Phamacokinetics of Sapropterin Dihydrochloride (Kuvan) in Phenylketonuria (PKU) Patients

November 2010 Nov. 2021 Observational Post-Authorization Safety Study (phase IV), EMR 700773-001, Kuvan® Adult Maternal Pediatric European Registry (KAMPER)

MEMBER:
Sub-representative of the European Reference Network for Hereditary Metabolic Disorders - MetabERN
International Working Group on Neurotransmitter Related Disorders (iNTDs), Patient Registry
International Parkinson and Movement Disorder Society (MDS)
Società Italiana per lo studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale (SIMMESN)
Società Italiana di Neuropsichiatria dell Infanzia e dell Adolescenza (SINPIA)

PUBLICATIONS (FIRST, CO-FIRST AND LAST AUTHORSHIP)
- Nardecchia F, Caciotti A, Giovanniello T, De Leo S, Ferri L, Galosi S, Santagata S, Torres B, Bernardini L, Carducci C, Morrone A, Leuzzi V. 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature. Int J Mol Sci. 2022 Apr 16;23(8):4422.
- Leuzzi V, Nardecchia F. Looking back at the neonatal period in early-treated phenylketonuric patients. Pediatr Res. 2022 Jan 20. Epub ahead of print.
- Rossi L, Nardecchia F, Pierigè F, Ventura R, Carducci C, Leuzzi V, Magnani M, Cabib S, Pascucci T. Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency. Genes (Basel). 2021 Aug 2;12(8):1201.
- Nardecchia F, De Giorgi A, Palombo F, Fiorini C, De Negri AM, Carelli V, Caporali L, Leuzzi V. Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness. Ann Clin Transl Neurol. 2021 Jan;8(1):247-251.
- Nardecchia F, Manti F, De Leo S, Carducci C, Leuzzi V. Clinical characterization of tremor in patients with phenylketonuria. In Press, Mol Genet Metab.
- Nasca A, Nardecchia F, Commone A, Semeraro M, Legati A, Garavaglia B, Ghezzi D, Leuzzi V. Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration. Front Genet. 2018 Dec 7;9:625.
- Manti F, Nardecchia F, Barresi S, Venditti M, Pizzi S, Hamdan FF, Blau N, Burlina A, Tartaglia M, Leuzzi V. Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism. Parkinsonism Relat Disord. 2018 Oct 11.
-Nardecchia F, Orlando R, Iacovelli L, Colamartino M, Fiori E, Leuzzi V, Piccinin S, Nistico R, Puglisi-Allegra S, Di Menna L, Battaglia G, Nicoletti F, Pascucci T. Targeting mGlu5 Metabotropic Glutamate Receptors in the Treatment of Cognitive Dysfunction in a Mouse Model of Phenylketonuria. Front Neurosci. 2018 Mar 16;12:154.
- Nardecchia F, Chiarotti F, Carducci C, Santagata S, Valentini G, Angeloni A, Blau N, Leuzzi V. Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency. Eur J Pediatr. 2017 Jul;176(7):917-924. doi: 10.1007/s00431-017-2932-x. Epub 2017 May 24.
- Manti F, Nardecchia F, Chiarotti F, Carducci C, Carducci C, Leuzzi V. Psychiatric disorders in adolescent and young adult patients with phenylketonuria. Mol Genet Metab. 2016 Jan;117(1):12-8. doi: 10.1016/j.ymgme.2015.11.006. Epub 2015 Nov 14.
- Nardecchia F, Manti F, Chiarotti F, Carducci C, Carducci C, Leuzzi V. Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study. Mol Genet Metab. 2015 Jun-Jul;115(2-3):84-90. doi: 10.1016/j.ymgme.2015.04.003. Epub 2015 Apr 29.

PUBLICATIONS (CO-AUTHORSHIP)
- Galosi S, Pollini L, Nardecchia F, Cellini E, Guerrini R, Leuzzi V. Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy. Mov Disord Clin Pract. 2022 Sep 11;9(Suppl 2):S41-S43. doi: 10.1002/mdc3.13525.
- Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narl N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group, Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, ahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. Genet Med. 2022 Aug 23:S1098-3600(22)00850-4. doi: 10.1016/j.gim.2022.07.013.
- Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, Burlina A, Angeloni A, Aronica T, Bordugo A, Bucci I, Camilot M, Carbone MT, Cardinali R, Carducci C, Cassanello M, Castana C, Cazzorla C, Ciatti R, Ferrari S, Frisso G, Funghini S, Furlan F, Gasperini S, Gragnaniello V, Guzzetti C, La Marca G, La Spina L, Lorè T, Meli C, Messina M, Morrone A, Nardecchia F, Ortolano R, Parenti G, Pavanello E, Pieragostino D, Pillai S, Porta F, Righetti F, Rossi C, Rovelli V, Salina A, Santoro L, Sauro P, Schiaffino MC, Simonetti S, Vincenzi M, Tarsi E, Uccheddu AP. Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047.
- Bianchi M, Rossi L, Pierigè F, De Angeli P, Aliano MP, Carducci C, Di Carlo E, Pascucci T, Nardecchia F, Leuzzi V, Magnani M. Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine. Mol Ther Methods Clin Dev. 2022 Feb 22;25:26-40.
- Mero S, Salviati L, Leuzzi V, Rubegni A, Calderan C, Nardecchia F, Galatolo D, Desbats MA, Naef V, Gemignani F, Novelli M, Tessa A, Battini R, Santorelli FM, Marchese M. New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts. J Neurol. 2021 Sep;268(9):3381-3389.
- Leuzzi V, Nardecchia F, Pons R, Galosi S. Parkinsonism in children: Clinical classification and etiological spectrum. Parkinsonism Relat Disord. 2021 Jan;82:150-157. doi: 10.1016/j.parkreldis.2020.10.002. Epub 2020 Oct 21. PMID: 33109474.
- Romani C, Manti F, Nardecchia F, Valentini F, Fallarino N, Carducci C, De Leo S, MacDonald A, Palermo L, Leuzzi V. Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples. Nutrients. 2020 Oct 3;12(10):3033.
- Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V. Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients. Mol Genet Metab. 2020 Jun 24:S1096-7192(20)30148-7.
- Trimarco B, Manti F, Nardecchia F, Melogno S, Testa M, Meledandri G, Carducci C, Penge R, Leuzzi V. Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria. Mol Genet Metab Rep. 2020 Mar 9;23:100577.
- Pollini L, Tolve M, Nardecchia F, Galosi S, Carducci C, di Carlo E, Carducci C, Leuzzi V. Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male. Mol Genet Metab Rep. 2020 Jan 7;22:100560.
- Galosi S, Nardecchia F, Leuzzi V. Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features. Mov Disord Clin Pract. 2020 Feb 4;7(2):154-166.
- Pollini L, Galosi S, Nardecchia F, Musacchia F, Castello R, Nigro V, Leuzzi V. Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant. Mov Disord Clin Pract. 2019 Nov 21;7(1):118-119.
- Romani C, Manti F, Nardecchia F, Valentini F, Fallarino N, Carducci C, De Leo S, MacDonald A, Palermo L, Leuzzi V. Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels. Orphanet J Rare Dis. 2019 Nov 28;14(1):273.
- van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Casas K, Didycz B, Djordjevic M, Hertecant JL, Leuzzi V, Mathisen P, Nardecchia F, Powell KK, Rutsch F, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. Untreated PKU Patients without Intellectual Disability: What Do They Teach Us? Nutrients. 2019 Oct 25;11(11).
- Leuzzi V, Chiarotti F, Nardecchia F, van Vliet D, van Spronsen FJ. Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines. J Med Genet. 2020 Mar;57(3):145-150.
- van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. Can untreated PKU patients escape from intellectual disability? A systematic review. Orphanet J Rare Dis. 2018 Aug 29;13(1):149.
- Manti F, Nardecchia F, Paci S, Chiarotti F, Carducci C, Carducci C, Dalmazzone S, Cefalo G, Salvatici E, Banderali G, Leuzzi V. Predictability and inconsistencies in the cognitive outcome of early treated PKU patients. J Inherit Metab Dis. 2017 Nov;40(6):793-799. doi: 10.1007/s10545-017-0082-y. Epub 2017 Aug 23.
- Panaccione I, Iacovelli L, di Nuzzo L, Nardecchia F, Mauro G, Janiri D, De Blasi A, Sani G, Nicoletti F, Orlando R. Paradoxical sleep deprivation in rats causes a selective reduction in the expression of type-2 metabotropic glutamate receptors in the hippocampus. Pharmacol Res. 2017 Mar;117:46-53. doi: 10.1016/j.phrs.2016.11.029. Epub 2016 Nov 23.
- Leuzzi V, Rossi L, Gabucci C, Nardecchia F, Magnani M. Erythrocyte-mediated delivery of recombinant enzymes. J Inherit Metab Dis. 2016 Jul;39(4):519-30. doi: 10.1007/s10545-016-9926-0. Epub 2016 Mar 30.
- Mastrangelo M, Chiarotti F, Berillo L, Caputi C, Carducci C, Di Biasi C, Manti F, Nardecchia F, Leuzzi V. The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study. Mol Genet Metab. 2015 Nov;116(3):171-7. doi: 10.1016/j.ymgme.2015.08.005. Epub 2015 Aug 10.
- Papetti L, Parisi P, Leuzzi V, Nardecchia F, Nicita F, Ursitti F, Marra F, Paolino MC, Spalice A. Metabolic epilepsy: an update. Brain Dev. 2013 Oct;35(9):827-41. doi: 10.1016/j.braindev.2012.11.010. Epub 2012 Dec 27.
- Ardizzone I, Nardecchia F, Marconi A, Carratelli TI, Ferrara M. Antipsychotic medication in adolescents suffering from schizophrenia: a meta-analysis of randomized controlled trials. Psychopharmacol Bull. 2010;43(2):45-66.