Fernando Scaglia, M.D.

Professor

(832) 822-4280

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Email

fscaglia@bcm.edu

Positions

Professor: Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US

Clinical Director: BCM-CUHK Joint Center for Medical Genetics in Hong Kong

Co-Director: Pediatric Mitochondrial Medicine Clinic
Texas Children’s Hospital

Director: Adult Mitochondrial Medicine Clinic
Baylor Medicine

Education

BS from National University Of La Plata: 01/1982 - La Plata, Argentina

MD from University Of La Plata School Of Medicine: 01/1989 - La Plata, Argentina

Internship at Emory University Affiliate Hospitals: 01/1990 - Atlanta, GA, United States; Pediatrics

Residency at Emory University Affiliate Hospitals: 01/1992 - Atlanta, GA, United States; Pediatrics

Fellowship at Emory University Affiliate Hospitals: 01/1995 - Atlanta, GA, United States; Medical Genetics

Certifications

General Pediatrics: American Board of Pediatrics

Clinical Genetics: American Board of Medical Genetics

Professional Interests

Molecular bases of pediatric mitochondrial encephalomyopathies
Stable isotope studies in MELAS syndrome to evaluate nitric oxide flux production and glucose kinetics
EPI-746 clinical trial for Leigh syndrome

Professional Statement

My primary research interest is focused on the study of the natural history of mitochondrial disorders supported by the NIH funded North American Mitochondrial Disease Consortia (NAMDC), a registry that focuses on the longitudinal study of patients with mitochondrial disease. Furthermore, I am also involved in clinical trials in children and adults with mitochondrial disorders. One of my current areas of research includes the study of nitric oxide deficiency as the basis for stroke-like episodes in adults and children with a mitochondrial syndrome called MELAS. As a Principal Investigator on several grants that have been funded by national organizations in the U.S., I have laid the groundwork for the study of nitric oxide deficiency in MELAS syndrome and its restoration with the use of arginine and citrulline supplementation. A current NIH grant funds a phase 1 study that aims to determine the maximum tolerated dose and safety profile of citrulline supplementation in adults with MELAS syndrome. Moreover, I am involved in an international clinical trial for pediatric patients evaluating the efficacy of vatiquinone in mitochondrial refractory epilepsy and in a national multi-center trial evaluating the safety and efficacy of dichloroacetate in pyruvate dehydrogenase deficiency. In addition, I have conducted a trial to evaluate the effect of bocidelpar sulfate, a selective modulator of PPARd in adults with primary mitochondrial myopathy. Finally, I am also involved in establishing the natural history of congenital disorders of glycosylation with the support of the NIH funded Frontiers in Congenital Disorders of Glycosylation Consortia (FCDGC).

Furthermore, I am interested in determining whether there is a specific metabolomics signature for the different mitochondrial disorders caused by mitochondrial and nuclear gene defects and whether this profile could be used to monitor their natural history and the treatment efficacy when novel therapeutic approaches are trialed. In that capacity, I am the co-chair of a CDE mitochondrial biomarker subgroup that works with NINDS.

Websites

VIICTR Publications List

Selected Publications

Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F. " Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency " Am J Med Genet A. 2023 May ; 191 (5) : 1366-1372.
Pubmed PMID: 36751706.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, (…), Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove J, Vissing J, Vockley G, Finman JS, Brown DA, Shiffer JA, Mancuso M. " Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial " Neurology. 2023 Jul ; 101 (3) : e238-e252.
Pubmed PMID: 37268435.
Snyder MT, Manor J, Gijavanekar C, Mizerik E, Kralik SF, Elsea SH, Machol K, Emrick L, Scaglia F. " Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors " Am J Med Genet A. 2024 Mar ; 194 : e63461.
Pubmed PMID: 37953071.
Poon CYL, Leung TY, Wang CC, Daljit S, Nicolaides K, Scaglia F, Cheng KYY, Milosavljevic A. " Aspirin delays the metabolic clock of gestation in women at risk of preeclampsia: abridged secondary publication " Hong Kong Med J. 2024 ; 30 (Suppl 1) : 45-46.
Pubmed PMID: 38413214.
Walimbe AS, Machol K, Kralik SF, Mizerik EA, Gofin Y, Bekheirnia MR, Gijavanekar C, Elsea SH, Emrick LT, Scaglia F. " Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report " BMC Neurol. 2024 Mar ; 24 (1) : 87.
Pubmed PMID: 38438854.
Gerard A, Mizerik E, Mohila CA, AlAwami S, Hunter JV, Kearney DL, Lalani SR, Scaglia F. " Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease " Am J Med Genet A.. 2024 Jul ; 194 (7) : e63589.
Pubmed PMID: 38469956.
Komulainen-Ebrahim J, Kangas SM, López-Martín E, Feyma T, Scaglia F, Martínez-Delgado B, Kuismin O, Suo-Palosaari Maria, Olsén P, Hinttala R, Kurian MA, Uusima J. " Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant " Mov Disord Clin Pract.. 2024 Jun ; 11 (6) : 708-715.
Pubmed PMID: 38698576.
Zemet R, Hope KD, Edmondson AC, Shah R, Patino M, Yesso AM, Berger JH, Sarafoglou K, Larson A, Lam C, Morava E, Scaglia F. " Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation " Mol Genet Metab. 2024 Aug ; 142 (4) : 108513.
Pubmed PMID: 38917675.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, (…), Morava E. " Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort " Mol Genet Metab. 2024 Aug ; 142 (4) : 108509.
Pubmed PMID: 38959600.
Li X, Milosavljevic A, Elsea SH, Wang CC, Scaglia F, Syngelaki A, Nicolaides KH, Poon LC. " Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of Gestation. " Hypertension. 2021 ; 78 : 1398-1410.
Lim J, Shayota BJ, Lay E, Elsea SH, Bekheirnia MR, Tessier MEM, Kralik SF, Rice GM, Soler-Alfonso C, Scaglia F. " Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. " J Child Neurol.. 2021 ; 36 : 841-852.
Pubmed PMID: 33900143.
Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R. " TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.. " Mol Genet Metab. 2021 ; 132 : 146-153.
Almannai M, El-Hattab AW, Ali M, Soler-Alfonso C, Scaglia F. " Clinical trials in mitochondrial disorders, an update.. " Mol Genet Metab.. 2020 ; 131 : 1-13.
Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. " Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.. " Am J Med Genet A. 2020 ; 182 : 2781-2787.
Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, (...), Scaglia F, (...), Buchsbaum R, Thompson JLP, Hirano M. " Mitochondrial diseases in North America: An analysis of the NAMDC Registry. " Neurol Genet.. 2020 ; 6 : e402.
Madsen KL, Buch AE, Cohen BH, Falk MJ, Goldsberry A, (...), Scaglia F, Shieh PB, Vockley J, Zolkipli-Cunningham Z, Haller RG, Vissing J. " Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. " Neurology. 2020 ; 94 : e687-e698.
Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, (...), Scaglia F, Enns GM, Larson AA. " Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). " Mol Genet Metab.. 2020 ; 130 : 58-64.
Birjiniuk A, Glinton KE, Villafranco N, Boyer S, Laufman J, Mizerik E, Scott D, Elsea SH, Galambos C, Varghese NP, Scaglia F. " Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.. " Am J Med Genet A. 2020 ; 182 : 755-761.
Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F. " Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. " Genet. Med.. 2012 Oct ; 14 (10) : 868-76.
Pubmed PMID: 22722545.
Pillai NR, AlDhaheri NS, Ghosh R, Lim J, Streff H, Nayak A, Graham BH, Hanchard NA, Elsea SH, Scaglia F. " Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.. " Am J Med Genet A.. 2019 ; 179 : 2138-2143.

Memberships

American Society of Human Genetics: Member

Society of Inherited Metabolic Disorders: Member

Society for the Study of Inherited Metabolic Disorders: Member