Roberto T Zori

Roberto T Zori, M.D.

Professor And Chief

Department: Pediatric Genetics and Metabolism
Business Phone: (352) 265-7785
Business Email: zorirt@peds.ufl.edu

About Roberto T Zori

Dr. Roberto Zori – Chief of Clinical Genetics and Metabolism/ Department of Pediatrics, Director of Cytogenetics; Interim Medical Director, Genetics/Molecular Pathology Laboratory Section; , Department of Pathology, Immunology and Laboratory, University of Forida;

Dr. Zori is a clinical geneticist and cytogeneticist. He is also a consultant to the craniofacial clinic for clinical genetics diagnostic and counseling issues

Clinical Profile

Specialties
  • Pediatric Genetics and Metabolism
  • Pediatrics
Areas of Interest
  • Angelman syndrome
  • Cleft lip and palate
  • Genetics
  • Phenylketonuria

Publications

Academic Articles
2024
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.
Lancet (London, England). 404(10460):1333-1345 [DOI] 10.1016/S0140-6736(24)01556-3. [PMID] 39368841.
2024
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.
Molecular genetics and metabolism. 141(1) [DOI] 10.1016/j.ymgme.2023.108114. [PMID] 38142628.
2024
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Molecular genetics and metabolism reports. 39 [DOI] 10.1016/j.ymgmr.2024.101084. [PMID] 38694233.
2023
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Molecular genetics and metabolism. 139(3) [DOI] 10.1016/j.ymgme.2023.107612. [PMID] 37245378.
2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.
Nature metabolism. 5(10):1685-1690 [DOI] 10.1038/s42255-023-00897-6. [PMID] 37770764.
2021
Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 25(5):309-311 [DOI] 10.1016/j.jaapos.2021.05.014. [PMID] 34582953.
2021
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
Journal of inherited metabolic disease. 44(4):847-856 [DOI] 10.1002/jimd.12343. [PMID] 33325055.
2021
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Molecular genetics and metabolism. 132(1):19-26 [DOI] 10.1016/j.ymgme.2020.12.002. [PMID] 33388234.
2021
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria.
Clinical and translational science. 14(5):1894-1905 [DOI] 10.1111/cts.13043. [PMID] 34057292.
2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Human molecular genetics. 29(9):1426-1439 [DOI] 10.1093/hmg/ddaa051. [PMID] 32202298.
2019
A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients’ preferences.
Molecular genetics and metabolism reports. 21 [DOI] 10.1016/j.ymgmr.2019.100507. [PMID] 31497506.
2019
Depletion of interfering IgG and IgM is critical to determine the role of IgE in pegvaliase-associated hypersensitivity.
Journal of immunological methods. 468:20-28 [DOI] 10.1016/j.jim.2019.03.004. [PMID] 30880261.
2019
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Genetics in medicine : official journal of the American College of Medical Genetics. 21(8):1851-1867 [DOI] 10.1038/s41436-018-0403-z. [PMID] 30546086.
2019
Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.
Molecular genetics and metabolism. 128(1-2):92-101 [DOI] 10.1016/j.ymgme.2019.07.018. [PMID] 31439512.
2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
Molecular genetics and metabolism. 127(4):336-345 [DOI] 10.1016/j.ymgme.2019.07.004. [PMID] 31326288.
2018
A pathogenic role for germline PTEN variants which accumulate into the nucleus.
European journal of human genetics : EJHG. 26(8):1180-1187 [DOI] 10.1038/s41431-018-0155-x. [PMID] 29706633.
2018
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.
Molecular genetics and metabolism. 125(3):217-227 [DOI] 10.1016/j.ymgme.2018.06.010. [PMID] 30146451.
2018
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.
Orphanet journal of rare diseases. 13(1) [DOI] 10.1186/s13023-018-0858-7. [PMID] 29973227.
2018
Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem.
Pediatric research. 83(4):889-896 [DOI] 10.1038/pr.2017.323. [PMID] 29278642.
2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).
Molecular genetics and metabolism. 124(1):27-38 [DOI] 10.1016/j.ymgme.2018.03.006. [PMID] 29653686.
2018
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders.
Molecular genetics and metabolism. 125(3):251-257 [DOI] 10.1016/j.ymgme.2018.09.001. [PMID] 30217721.
2018
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
American journal of medical genetics. Part A. 176(4):945-950 [DOI] 10.1002/ajmg.a.38648. [PMID] 29575629.
2017
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Brain : a journal of neurology. 140(10) [DOI] 10.1093/brain/awx222. [PMID] 28969388.
2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.
Molecular genetics and metabolism. 122(3):46-53 [DOI] 10.1016/j.ymgme.2017.09.002. [PMID] 28916119.
2017
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Nature genetics. 49(1):36-45 [DOI] 10.1038/ng.3720. [PMID] 27841880.
2015
A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.
Ophthalmic genetics. 36(1):92-4 [DOI] 10.3109/13816810.2013.835432. [PMID] 24024747.
2015
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Genetics in medicine : official journal of the American College of Medical Genetics. 17(7):561-8 [DOI] 10.1038/gim.2014.148. [PMID] 25503497.
2015
Evaluation of An Induction, Titration, and Maintenance Dosing Regimen in a Phase 2 Study of Ravpal-Peg (Bmn 165) for Control of Blood Phenylalanine Levels in Adults With Phenylketonuria (Pku)
Molecular Genetics and Metabolism. 114(3):368-369
2015
Evaluation of Long-Term Safety and Efficacy With Ravpal-Peg (Bmn 165) for Control of Blood Phenylalanine Levels in Adults With Phenylketonuria (Pku)
Molecular Genetics and Metabolism. 114(3):365-366
2015
Evaluation of Multiple Dosing Regimens in Phase 2 Studies of Ravpal-Peg (Bmn 165) for Control of Blood Phenylalanine Levels in Adults With Phenylketonuria
Molecular Genetics and Metabolism. 114(3):364-365
2015
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
The Journal of clinical endocrinology and metabolism. 100(2):E333-44 [DOI] 10.1210/jc.2014-2605. [PMID] 25383892.
2015
Phase 2 Studies Contribute To Ravpal-Peg Phase 3 Trial Design
Molecular Genetics and Metabolism. 114(3):366-367
2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Molecular genetics and metabolism. 116(1-2):29-34 [DOI] 10.1016/j.ymgme.2015.08.002. [PMID] 26296711.
2014
Usp7 protects genomic stability by regulating Bub3.
Oncotarget. 5(11):3728-42 [PMID] 25003721.
2013
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
Hepatology (Baltimore, Md.). 57(6):2171-9 [DOI] 10.1002/hep.26058. [PMID] 22961727.
2012
16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer.
Gene. 498(2):328-31 [DOI] 10.1016/j.gene.2012.01.028. [PMID] 22326525.
2012
A new case of pure partial 7q duplication.
Cytogenetic and genome research. 136(1):1-5 [DOI] 10.1159/000334111. [PMID] 22086126.
2012
Enhanced interpretation of newborn screening results without analyte cutoff values.
Genetics in medicine : official journal of the American College of Medical Genetics. 14(7):648-55 [DOI] 10.1038/gim.2012.2. [PMID] 22766634.
2012
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.
Pediatrics. 129(1):e183-8 [DOI] 10.1542/peds.2010-2094. [PMID] 22144704.
2012
Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
International journal of pediatric endocrinology. 2012(1) [DOI] 10.1186/1687-9856-2012-21. [PMID] 22781086.
2012
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.
Molecular genetics and metabolism. 107(3):308-14 [DOI] 10.1016/j.ymgme.2012.08.006. [PMID] 22958974.
2011
Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.
European journal of medical genetics. 54(3):333-6 [DOI] 10.1016/j.ejmg.2011.02.003. [PMID] 21354345.
2011
Facial dysmorphism and digit anomalies in three siblings with severe developmental delay.
Clinical dysmorphology. 20(2):92-94 [DOI] 10.1097/MCD.0b013e3283435174. [PMID] 21383553.
2011
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
American journal of medical genetics. Part A. 155A(1):22-32 [DOI] 10.1002/ajmg.a.33783. [PMID] 21204207.
2009
Aldehyde dehydrogenase activity as a functional marker for lung cancer.
Chemico-biological interactions. 178(1-3):48-55 [DOI] 10.1016/j.cbi.2008.09.029. [PMID] 18952074.
2009
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
American journal of medical genetics. Part A. 149A(8):1661-77 [DOI] 10.1002/ajmg.a.32896. [PMID] 19606479.
2009
Long-term disease control of refractory anaplastic large cell lymphoma with vinblastine.
Journal of pediatric hematology/oncology. 31(2):145-7 [DOI] 10.1097/MPH.0b013e31819146f8. [PMID] 19194204.
2009
Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.
American journal of medical genetics. Part A. 149A(2):262-5 [DOI] 10.1002/ajmg.a.32512. [PMID] 19133694.
2009
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.
Journal of inherited metabolic disease. 32 Suppl 1(0 1):S103-6 [DOI] 10.1007/s10545-009-1088-x. [PMID] 19322675.
2008
TFAP2A mutations result in branchio-oculo-facial syndrome.
American journal of human genetics. 82(5):1171-7 [DOI] 10.1016/j.ajhg.2008.03.005. [PMID] 18423521.
2008
The Detection of Bone Marrow Hematogones By Multiparameteric Flow Cytometric Analysis in Myelodysplastic Syndromes Predicts the Presence of Del 5Q
American Journal of Clinical Pathology. 130
2007
Chromosome painting in the manatee supports Afrotheria and Paenungulata.
BMC evolutionary biology. 7 [PMID] 17244368.
2007
In vivo expression of human ATP:cob(I)alamin adenosyltransferase (ATR) using recombinant adeno-associated virus (rAAV) serotypes 2 and 8.
The journal of gene medicine. 9(6):462-9 [PMID] 17471589.
2006
G-banded karyotype and ideogram for the North Atlantic right whale (Eubalaena glacialis).
The Journal of heredity. 97(3):303-6 [PMID] 16598035.
2006
High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.
American journal of medical genetics. Part A. 140(18):1950-4 [PMID] 16906561.
2006
Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p.
Arthritis and rheumatism. 54(5):1573-9 [PMID] 16645992.
2006
Telegenetic medicine: improved access to services in an underserved area.
Journal of telemedicine and telecare. 12(4):182-5 [PMID] 16774698.
2005
Diagnosis of an early precursor-B-ALL presenting with hypereosinophilia using FISH on immunomagnetically selected CD19+ cells.
Clinical advances in hematology & oncology : H&O. 3(1):62-4 [PMID] 16166969.
2005
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.
American journal of human genetics. 76(4):663-71 [PMID] 15717285.
2004
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones.
The Journal of pediatrics. 145(4) [PMID] 15480389.
2004
Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: case report.
Human reproduction (Oxford, England). 19(12):2816-21 [PMID] 15375077.
2004
Locus control region elements HS2 and HS3 in combination with chromatin boundaries confer high-level expression of a human beta-globin transgene in a centromeric region.
Genes to cells : devoted to molecular & cellular mechanisms. 9(11):1043-53 [PMID] 15507116.
2004
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.
American journal of medical genetics. Part A. 124A(2):158-64 [PMID] 14699614.
2003
Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.
American journal of medical genetics. Part A. 116A(2):176-8 [PMID] 12494438.
2003
Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders.
American journal of medical genetics. Part A. 117A(2):105-11 [PMID] 12567405.
2003
Translocation (X;20)(q13.1;q13.3) as a primary chromosomal finding in two patients with myelocytic disorders.
Cancer genetics and cytogenetics. 141(2):169-74 [PMID] 12606138.
2002
Genetic insights into familial cancers– update and recent discoveries.
Cancer letters. 181(2):125-64 [PMID] 12175530.
2001
A family with a grand-maternally derived interstitial duplication of proximal 15q.
Clinical genetics. 60(6):421-30 [PMID] 11846734.
2001
A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX.
Clinical genetics. 60(1):73-6 [PMID] 11531974.
2001
Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
Journal of medical genetics. 38(12):834-45 [PMID] 11748306.
2001
Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects.
American journal of medical genetics. 103(4):339-41 [PMID] 11746016.
2001
Prolonged neuromuscular block in a patient undergoing renal transplantation.
Journal of clinical anesthesia. 13(7):540-4 [PMID] 11704454.
2000
Culture of cytogenetically abnormal schwann cells from benign and malignant NF1 tumors.
Genes, chromosomes & cancer. 27(2):117-23 [PMID] 10612798.
1999
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.
Genomics. 58(1):34-40 [PMID] 10331943.
1998
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
Human mutation. 11(5) [PMID] 10336779.
1998
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
American journal of medical genetics. 80(4):399-402 [PMID] 9856571.
1998
In vitro selection for K562 cells with higher retrovirally mediated copy number of aldehyde dehydrogenase class-1 and higher resistance to 4-hydroperoxycyclophosphamide.
Human gene therapy. 9(5):611-9 [PMID] 9551609.
1998
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
American journal of medical genetics. 77(3):198-200 [PMID] 9605586.
1998
Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome.
American journal of medical genetics. 78(5):450-4 [PMID] 9714012.
1998
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
American journal of medical genetics. 77(1):8-11 [PMID] 9557885.
1997
Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma.
Cancer genetics and cytogenetics. 98(1):20-7 [PMID] 9309114.
1997
NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Human mutation. 9(6):548-54 [PMID] 9195229.
1997
Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome?
American journal of medical genetics. 73(3):247-50 [PMID] 9415678.
1996
Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?
American journal of medical genetics. 64(4):546-50 [PMID] 8870920.
1996
Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.
American journal of human genetics. 58(1):161-70 [PMID] 8554052.
1995
Angelman syndrome.
Current problems in pediatrics. 25(7):216-31 [PMID] 8521718.
1995
Association of anophthalmia and esophageal atresia.
American journal of medical genetics. 59(4):484-91 [PMID] 8585569.
1995
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.
American journal of human genetics. 56(6):1411-6 [PMID] 7762564.
1994
Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.
American journal of medical genetics. 50(4):368-74 [PMID] 8209918.
1993
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
American journal of medical genetics. 47(4):504-11 [PMID] 8256814.
1993
Cytogenetic and molecular analysis in Angelman syndrome.
American journal of medical genetics. 46(1):7-11 [PMID] 8098583.
1993
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies.
American journal of medical genetics. 46(4):379-83 [PMID] 8357008.
1992
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
Genomics. 13(4):917-24 [PMID] 1505981.
1992
Angelman syndrome: clinical profile.
Journal of child neurology. 7(3):270-80 [PMID] 1634750.
1991
Phenocopy versus genocopy.
American journal of medical genetics. 40(2):248-9 [PMID] 1897581.
1990
Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.
American journal of medical genetics. 35(3):350-3 [PMID] 2309781.
1990
Parental origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes.
American journal of medical genetics. 37(2):294-5 [PMID] 2248305.
1990
Relationship of autoimmunity to thyroid dysfunction in children and adults with Down syndrome.
American journal of medical genetics. Supplement. 7:238-41 [PMID] 2149955.
1989
Incidence of congenital rubella syndrome in 19 regions of Europe in 1980-1986.
European journal of epidemiology. 5(1):106-9 [PMID] 2785054.
1985
[Erythema toxicum neonatorum with pustulation versus transient neonatal pustular melanosis].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 36(8):475-7 [PMID] 4044258.
1982
Malnutrition and hypernatremic dehydration in breast-fed infants.
JAMA. 247(7):1016-7 [PMID] 7057575.

Grants

Sep 2024 – Oct 2024
A Phase 1/2, First-in-Human, Open-Label, Dose Escalation Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of mRNA 3210 in Participants with Phenylketonuria (Study) in accordance with Sponsors protocol no. mRNA-3210-P101 (Protocol); – Start Up Fees
Role: Principal Investigator
Funding: MODERNA THERAPEUTICS
Dec 2023 ACTIVE
A Multicentre, Observational Study to Evaluate the Real-World Outcomes of Palynziq? (Pegvaliase) in Subjects With Phenylketonuria (OPAL)
Role: Principal Investigator
Funding: IQVIA Holdings via BIOMARIN PHARMACEUTICAL
Dec 2023 ACTIVE
A Phase 1/Phase 2, open-label, dose-escalation, and dose expansion study to evaluate the safety, tolerability, and efficacy of SAR444836, an adeno-associated viral vector-mediated gene transfer of human phenylalanine hydroxylase, in adult participants with phenylketonuria
Role: Principal Investigator
Funding: SANOFI
Sep 2023 ACTIVE
A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adeno-associated Virus Serotype 8 (AAV8)-mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Patients with Late- onset OTC Deficiency
Role: Principal Investigator
Funding: PPD INVESTIGATOR SERVICES LLC via ULTRAGENYX PHARMACEUTICAL INC
Aug 2023 ACTIVE
A Phase 3, Double-blind, Placebo-controlled, Randomized Withdrawal Study to Evaluate the Efficacy and Safety of SYNB1934 in Patients with PKU (SYNPHENY-3)
Role: Principal Investigator
Funding: WORLDWIDE CLINICAL TRIALS via SYNLOGIC
Jun 2023 ACTIVE
A Phase 1, First-in-Human, Multiple Part, Single Ascending and Multiple Dose Study of JNT-517 in Healthy Participants and in Participants with Phenylketonuria
Role: Principal Investigator
Funding: JNANA THERAPEUTICS
Mar 2023 – Sep 2023
A PHASE 3 OPEN-LABEL STUDY OF SAFETY OF WEEKLY SUBCUTANEOUS PEGZILARGINASE IN SUBJECTS WITH ARGINASE I DEFICIENCY
Role: Principal Investigator
Funding: AEGLEA BIOTHERAPEUTICS
Nov 2022 ACTIVE
A Phase 3 Open-Label Extension Study of PTC923 in Phenylketonuria
Role: Principal Investigator
Funding: PTC THERAPEUTICS
May 2022 ACTIVE
A Phase 3 Multi-Center Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase in Adolescent Subjects (Ages 12-17) with Phenylketonuria Featuring an Open-Label Randomized Two-Arm (Active vs Diet-Only Control) Design
Role: Principal Investigator
Funding: BIOMARIN PHARMACEUTICAL
Feb 2022 ACTIVE
A PHASE 3 STUDY OF PTC923 IN SUBJECTS WITH PHENYLKETONURIA
Role: Principal Investigator
Funding: MEDIDATA via PTC THERAPEUTICS
Jul 2021 ACTIVE
A Phase 1b Randomized, Double Blinded, Placebo Controlled, Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of Single Doses of ARCT-810 in Clinically Stable Patients with Ornithine Transcarbamylase Deficiency
Role: Principal Investigator
Funding: ARCTURUS THERAPEUTICS
Apr 2021 – Nov 2023
An Open-label Study of the Efficacy and Safety of SYNB1618 and SYNB1619 in Patients with Phenylketonuria (SynPheny-1)
Role: Principal Investigator
Funding: PHARMACEUTICAL RES ASSO via SYNLOGIC
Mar 2021 ACTIVE
A Phase 1/2 Open-Label, Dose Escalation Study to Determine the Safety and Efficacy of BMN 307, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Phenylalanine Hydroxylase in Subjects with Phenylketonuria and Plasma Phe Levels > 600 ?mol/L
Role: Principal Investigator
Funding: BIOMARIN PHARMACEUTICAL
Jan 2020 – Nov 2023
A Randomized, Double-Blind, Placebo-Controlled Phase 3 Study of the Efficacy and Safety of Pegzilarginase in Children and Adults with Arginase 1 Deficiency
Role: Principal Investigator
Funding: DRUGDEV INC via AEGLEA BIOTHERAPEUTICS
Sep 2019 – Apr 2023
A Prospective Clinical Study of Phenylketonuria (PKU)
Role: Principal Investigator
Funding: DRUGDEV INC via BIOMARIN PHARMACEUTICAL
Aug 2019 – Aug 2021
A Phase 2, Open-label Study to Evaluate the Efficacy and Safety of KB195 in Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care
Role: Principal Investigator
Funding: DRUGDEV INC via KALEIDO BIOSCIENCES
May 2019 – Aug 2023
HPN-100-021: A Randomised, Controlled, Open-Label Parallel Arm Study of the Safety, Pharmacokinetics and Ammonia Control of RAVICTI? (Glycerol Phenylbutyrate [GPB]) Oral Liquid and Sodium Phenylbutyrate (NaPBA) in Phenylbutyrate Treatment Na?ve Patients with Urea Cycle Disorders
Role: Principal Investigator
Funding: HORIZON THERAPEUTICS
Sep 2018 – Dec 2021
An Open-label Extension Study to Evaluate the Safety and Efficacy of Subcutaneous Injections of Pegvaliase (> 40 mg/day Dose) in Adults with Phenylketonuria
Role: Principal Investigator
Funding: DRUGDEV INC via BIOMARIN PHARMACEUTICAL
May 2018 – May 2023
A Non-Interventional Observational Study of Pegvaliase-Na?ve Adults with Phenylketonuria (PKU): Concept Elicitation and Cognitive Interviews
Role: Principal Investigator
Funding: DRUGDEV INC via BIOMARIN PHARMACEUTICAL
Nov 2017 – Nov 2023
An Open-label, Multicenter Extension Study To Evaluate The Long-Term Safety, Tolerability And Effects Of Intravenous AEB1102 In Patients with Arginase I Deficiency Who Previously Received Treatment In Study CAEB1102-101A
Role: Principal Investigator
Funding: AEGLEA BIOTHERAPEUTICS
Mar 2017 – Mar 2022
A phase 2 Adult Angelman Syndrome Clinical Trial: A Randomized, Double-blind, Safety and Efficacy of Gaboxadol
Role: Principal Investigator
Funding: OVID THERAPEUTICS
Jul 2016 ACTIVE
CMS Newborn Screening – COQWX
Role: Principal Investigator
Funding: FL DEPT OF HLTH CHILDRENS MED SERVS
Jul 2016 ACTIVE
FLDOH CMS Long Term Genetics – COQXA
Role: Project Manager
Funding: FL DEPT OF HLTH CHILDRENS MED SERVS
Jun 2016 – Jun 2019
A Phase 1 Open-label Dose-escalation Study of AEB1102 in Patients with Arginase I Deficiency and Hyperargininemia.
Role: Principal Investigator
Funding: AEGLEA BIOTHERAPEUTICS
Apr 2015 – Apr 2018
An Open Label Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate (GPB; RAVICTI?) in Pediatric Subjects under Two Years of Age with Urea Cycle Disorders (UCDs)
Role: Principal Investigator
Funding: HYPERION THERAPEUTICS INC
Jul 2014 – Jul 2022
Long-Term Registry of Patients With Urea Cycle Disorders (UCDs)
Role: Principal Investigator
Funding: HYPERION THERAPEUTICS INC
Mar 2014 – Oct 2020
ChORD (Children Overcoming Rare Disorders)
Role: Principal Investigator
Funding: UF FOUNDATION
Jul 2013 – Oct 2020
A Three-Part, Phase 3, Randomized, Double-Blind, Placebo-Controlled, Four-Arm, DiscontinuationStudy to Evaluate the Efficacy and Safety of Subcutaneous Injections of BMN 165 Self Administered byAdults With Phenylketonuria (Prism Study 302)
Role: Principal Investigator
Funding: BIOMARIN PHARMACEUTICAL
Apr 2013 – Apr 2019
A Phase 3, Open-Label, Randomized, Multi-Center Study to Assess the Safety and Tolerability of an Induction, Titration, and Maintenance Dose Regimen of BMN 165 Self Administered by Adults With Phenylketonuria Not Previously Treated with BMN 165
Role: Principal Investigator
Funding: BIOMARIN PHARMACEUTICAL
Mar 2012 ACTIVE
ADMINISTRATIVE STAFF SUPPORT
Role: Principal Investigator
Funding: UNIV OF FLORIDA
Dec 2011 – Dec 2022
Long-term Extension of a Phase 2, Open-Label, Dose-Finding Study to Evaluate the Safety, Efficacy, andTolerability of Multiple Subcutaneous Doses of rAvPALPEGin Subjects with PKU
Role: Principal Investigator
Funding: BIOMARIN PHARMACEUTICAL
Jan 2011 – Jun 2016
Genetics/Newborn/Cystic Fibrosis Screening
Role: Principal Investigator
Funding: FL DEPT OF HLTH
Dec 2010 – Dec 2016
A double-blind, placebo-controlled, randomized study to evaluate the safety and therapeutic effect of sapropterin dihydrochloride on neurpsychiatric symptoms in subjects with phenylketonuria
Role: Principal Investigator
Funding: BIOMARIN PHARMACEUTICAL
Dec 2009 – Dec 2018
PKUDOS – PKU Demographics, Outcomes, and Safety Registry
Role: Principal Investigator
Funding: BIOMARIN PHARMACEUTICAL
Dec 2009 ACTIVE
LSD Registry Program
Role: Principal Investigator
Funding: GENZYME CORP
Sep 2002 ACTIVE
92050504
Role: Project Manager
Funding: HAYWARD FOU, JOHN & WINIFRED

Education

Residency – Pediatrics
1990 · University of Florida
Residency – Pediatrics
1983 · Baystate Medical Center
Internship – Pediatrics
1981 · Baystate Medical Center
Medical Degree
1979 · Odense University, Denmark

Contact Details

Phones:
Business:
(352) 265-7785
Emails:
Addresses:
Business Mailing:
PO Box 100275
GAINESVILLE FL 32610
Business Street:
Rocky POont Lab
GAINESVILLE FL 32611