Nicola Longo MD PhD

Medical Genetics•Los Angeles, CA

Clinical Biochemical Genetics, Clinical Genetics

Professor of Pediatrics, Chief, Division of Medical Genetics

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10833 Le Conte AveCenter for Health Sciences CHS 12-138Los Angeles, CA 90095
Phone+1 310-923-0473
Fax+1 310-206-8417

Education & Training

Univ Parma- Fac MedClass of 1982

Certifications & Licensure

AK State Medical License 2020 - 2026
CA State Medical License 2024 - 2026
UT State Medical License 2001 - 2026
NV State Medical License 2008 - 2025
WY State Medical License 2011 - 2025
GA State Medical License 1995 - 2001
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Clinical Trials

Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Start of enrollment: 2007 Jul 25
Completed
Phase 2, Phase 3
Anaplerotic Therapy in Propionic Acidemia Start of enrollment: 2008 Jul 01
Completed
Phase 1
Safety Study of Replagal® Therapy in Children With Fabry Disease Start of enrollment: 2011 May 12
Completed
Phase 2
An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Start of enrollment: 2013 May 01
Completed
Phase 3
A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Start of enrollment: 2014 Feb 06
Completed
Phase 2
An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease Start of enrollment: 2020 Sep 01
Active, not recruiting
Phase 1, Phase 2
Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs) Start of enrollment: 2018 Feb 20
COMPLETED
PHASE4
Roles: Principal Investigator, Contact
Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
COMPLETED
Roles: Contact
Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Start of enrollment: 2020 Jul 14
ACTIVE_NOT_RECRUITING
PHASE3
Roles: Contact
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Publications & Presentations

PubMed

College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary o...
Kristina Cusmano-Ozog, Dietrich Matern, Thomas Long, Nicola Longo, Sarah Young
Genetics in Medicine Open. 2025-01-01
2 citations
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M Ennes
Orphanet Journal of Rare Diseases. 2024-11-21
Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8.
Nicola Longo, Laura Alane Voss, Marta Frigeni, Bijina Balakrishnan, Marzia Pasquali
Molecular Genetics and Metabolism. 2024-11-01

Press Mentions

Utah DOH Identifies First Baby with Inherited Disorder That Primarily Affects Brain, MusclesDecember 30th, 2020
Consensus Guideline for the Diagnosis and Treatment of Tetrahydrobiopterin (BH4) DeficienciesMay 26th, 2020
Horizon Pharma Plc Announces FDA Approval to Expand the Age Range for RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid to Include NewbornsDecember 27th, 2018
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Other Languages

Italian