FernandoScagliaMD

Pediatrics • Houston, TX

Associate Professor, Molecular & Human Genetics, Baylor College of Medicine

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Office
6701 Fannin St
Houston, TX 77030
Phone+1 832-822-4280

Fax+1 832-825-4294
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Education & Training

Emory University School of MedicineResidency, Pediatrics, 1992 - 1995
Emory University School of MedicineInternship, Transitional Year, 1991 - 1992
Universidad Nacional de La Plata Faculty of MedicineClass of 1991

Certifications & Licensure

TX State Medical License 1998 - 2024
GA State Medical License 1997 - 2001
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Clinical Trials

Nitric Oxide Production in MELAS Syndrome Start of enrollment: 2009 Jul 01
Completed
Early Phase 1
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Start of enrollment: 2010 Dec 01
Recruiting
Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Start of enrollment: 2014 May 01
Completed
Phase 2
Phase 2 Study of EPI-743 in Children With Pearson Syndrome Start of enrollment: 2014 Aug 31
Terminated
Phase 2
A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Start of enrollment: 2015 May 19
Terminated
Phase 2
L-Citrulline Dose Finding Safety Study in MELAS Start of enrollment: 2021 Apr 22
Recruiting
Phase 1
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation Start of enrollment: 2019 Oct 08
Recruiting
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Publications & Presentations

PubMed

Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
Amanda Gerard, Elizabeth Mizerik, Carrie A Mohila, Sarah AlAwami, Jill V Hunter, Debra L Kearney, Seema R Lalani, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2024 Mar 12
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
Ameya S Walimbe, Keren Machol, Stephen F Kralik, Elizabeth A Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H Elsea, Lisa T Emrick, Fernando Scaglia> ;BMC Neurology. 2024 Mar 4
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.
Matthew T Snyder, Joshua Manor, Charul Gijavanekar, Elizabeth Mizerik, Stephen F Kralik, Sarah H Elsea, Keren Machol, Lisa Emrick, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2024 Mar 1
7 citations
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce H Cohen, Gregory M Enns, Marni J Falk, Amy Goldstein, Gráinne Siobhan Gorman, Richard Haas, Michio Hirano, Thomas Kl...> ;Neurology. 2023 Jul 18
2 citations
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Laura Mackay, Charul Gijavanekar, Haley Streff, Jack F Price, Sarah H Elsea, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2023 May 1
6 citations
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, René G Feichtinger, Johannes A Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes ...> ;Genetics in Medicine. 2023 Jun 1
1 citations
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Yoel Gofin, Xiaonan Zhao, Amanda Gerard, Fernando Scaglia, Michael F Wangler, Samantha A Schrier Vergano, Daryl A Scott> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
2 citations
Mitochondrial DNA maintenance defects: potential therapeutic strategies.
Mohammed Almannai, Ayman W El-Hattab, Mahshid S Azamian, May Ali, Fernando Scaglia> ;Molecular Genetics and Metabolism. 2022 Jul 6
2 citations
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Margot A Cousin, Emma L Veale, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Ma...> ;Genome Medicine. 2022 Jun 13
2 citations
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
Joshua Manor, Daniel G Calame, Charul Gijavanekar, Alyssa Tran, Jawid M Fatih, Seema R Lalani, Elizabeth Mizerik, Mered Parnes, Vidya P Mehta, Adekunle M Adesina, Jame...> ;Brain. 2022 Jun 3
7 citations
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Joshua Manor, Daniel Calame, Charul Gijavanekar, Kristen Fisher, Jill Hunter, Elizabeth Mizerik, Carlos Bacino, Fernando Scaglia, Sarah H Elsea> ;Molecular Genetics and Metabolism. 2022 Jun 1
7 citations
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).
Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, Richard Haas, Douglas Kerr, Russell P Saneto, Bruce H Cohen, Johan L K Van Hove, Fernando Scaglia, Charles Hoppe...> ;Molecular Genetics and Metabolism. 2022 Jun 1
1 citations
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
Amel Karaa, Laura E MacMullen, John C Campbell, John Christodoulou, Bruce H Cohen, Thomas Klopstock, Yasutoshi Koga, Costanza Lamperti, Rob van Maanen, Robert McFarlan...> ;Advanced Genetics. 2022 Mar 1
4 citations
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
John D Odom, Hitha Amin, Charul Gijavanekar, Sarah H. Elsea, Stephen F. Kralik, Javier Chinen, Yuezhen Lin, Amber Meshell Mayfield Yates, Elizabeth Mizerik, Lorraine P...> ;American Journal of Medical Genetics. Part A. 2021 Sep 12
In Memoriam: Professor Lee-Jun Wong, Ph.D.
William J. Craigen, Fernando Scaglia> ;Molecular Genetics and Metabolism. 2021 Aug 20
7 citations
Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of Gestation
Xiqi Li, Aleksandar Milosavljevic, Sarah H. Elsea, Chi Chiu Wang, Fernando Scaglia, Argyro Syngelaki, Kypros H. Nicolaides, Liona C. Poon> ;Hypertension. 2021 Jul 6
6 citations
Expansion of the clinical phenotype of GALE deficiency.
Rebecca Markovitz, Nichole Owen, Lisa Forbes Satter, Susan E Kirk, Donald H. Mahoney, Alison A. Bertuch, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2021 Jun 22
Petrography descriptions and U-Pb zircon datasets from the Archean Pavas Block, Precambrian of Uruguay.
Henri Masquelin, Tahar Aïfa, Fernando Scaglia, Miguel Angelo Stipp Basei> ;Data in Brief. 2021 May 29
3 citations
Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.
Jaehyung Lim, Brian J. Shayota, Erica Lay, Sarah H. Elsea, Mir Reza Bekheirnia, Mary Elizabeth M. Tessier, Stephen F. Kralik, Gregory M. Rice, Claudia Soler-Alfonso, F...> ;Journal of Child Neurology. 2021 Apr 26
11 citations
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation
Chaya N. Murali, Claudia Soler-Alfonso, Kathleen M. Loomes, Amit A. Shah, Danielle Monteil, Carmencita D. Padilla, Fernando Scaglia, Rebecca D. Ganetzky> ;Molecular Genetics and Metabolism. 2021 Jan 14
36 citations
Clinical trials in mitochondrial disorders, an update
Mohammed Almannai, Ayman W. El-Hattab, May Ali, Claudia Soler-Alfonso, Fernando Scaglia> ;Molecular Genetics and Metabolism. 2020 Sep 1
11 citations
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
Nishitha R. Pillai, Hitha Amin, Charul Gijavanekar, Ning Liu, Niveen Issaq, Katarzyna A. Broniowska, Alison A. Bertuch, V. Reid Sutton, Sarah H. Elsea, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2020 Sep 10
6 citations
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2
Changrui Xiao, Esteban Astiazaran-Symonds, Shrabani Basu, Monisha S. Kisling, Fernando Scaglia, Kimberly A. Chapman, Yudong Wang, Jerry Vockley, Carlos Ferreira> ;American Journal of Medical Genetics. Part A. 2020 Aug 17
24 citations
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Kimberly A. Kripps, Warapan Nakayuenyongsuk, Brian J. Shayota, William E. Berquist, Natalia Gomez-Ospina, Carlos O. Esquivel, Waldo Concepcion, Jacinda B. Sampson, Dav...> ;Molecular Genetics and Metabolism. 2020 Mar 6
3 citations
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.
Shuk Ching Chong, Kam Lun Hon, Fernando Scaglia, Chung Mo Chow, Yu Ming Fu, Tor Chiu, Alexander K. C. Leung> ;Case Reports in Pediatrics. 2020 Apr 17
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Press Mentions

MELAS: Stopping the Stroke-like SyndromeAugust 12th, 2022
Senior Researcher Spotlight: Fernando Scaglia Explores Novel Therapeutic Approaches for Mitochondrial DisordersJune 7th, 2022
Aspirin Reduces Preeclampsia Risk, Affecting the Gestation Metabolic ClockJuly 7th, 2021
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