Rebecca Sponberg, Nurse Practitioner

Rebecca completed her bachelor’s degree at the University of Pittsburgh School of Nursing. She worked as a pediatric nurse in a transplant PICU and surgical units for several years before completing her master’s degree at the University of Virginia. She is certified as a pediatric nurse practitioner through the Pediatric Nursing Certification Board (PNCB).

She is the Metabolic Newborn Screening Program Director at the Children’s Hospital of Orange County (CHOC) and manages care for patients with inborn errors of metabolism (IEM). She is a member of the National Organization for Rare Disorders (NORD) Newborn Screening Work Group, and her conditions of interest include arginase deficiency, phenylketonuria (PKU), multiple acyl-CoA dehydrogenase deficiency (MADD/GAII), and neuronal ceroid lipofuscinosis type 2 (CLN2).

Location

CHOC Specialists, Metabolic Disorders
1201 W. La Veta Ave
Orange, CA 92868

Education

• Medical School
  University of Virginia School of Nursing, Charlottesville, VA

Presentations and Publications

Mares Beltran CF, Tise CG, Barrick R, Niehaus AD, Sponberg R, Chang R, Enns GM, Abdenur JE (2024). Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions. Genes, 15(7):838. https://doi.org/10.3390/genes15070838

Halabi, M., Lynskey, C., Pedroza, S., Sponberg, R., Fote, F., Wang, R., Olaya, J., & Steenari, M. (2024, March 7). Five-year outcomes of pediatric NCL2 patient treated with Cerliponase alfa. Poster session at the CHOC-UCI Rare Disease Symposium and Family Conference.

Bier, C., Dickey, K., Bibb, B., Crutcher, A., Sponberg, R., Chang, R., Boyer, M., Davis-Keppen, L, Matthes, C., Tharp, M., Vice, D., Cooney, E., Morand, M., Ray, J., Lah, M., McNutt, M, & Andersson, H. (2024). Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females. Molecular Genetics and Metabolism, 1-7. doi: https://doi.org/10.1016/j.ymgme.2024.108152

Mares Beltran, C. F., Abdenur, J.E., Sponberg, R. Barrick, R., Chang, R., Tise, C.G., Niehaus, A.D., Enns, G.M. (2023, March 18-21). Biochemical, molecular, and clinical characteristics of peroxisomal disorders detected by California newborn screening (NBS) program. Poster session at the Society for Inherited Metabolic Disorders (SIMD) Annual Meeting.

BioMarin Palynziq (Pegvaliase) Virtual Advisory Meeting Australian Presentation (2022, August 4 and 5). Our Experience with Palynziq at CHOC.

BioMarin Palynziq (Pegvaliase) Webinar (2023, February 16). Palynziq Implementation Experiences of a US Based Clinic for Canadian Audience.

Research Studies

SYNB1934-CP-003: A Phase 3, Double-blind, Placebo-controlled, Randomized Withdrawal Study to Evaluate the Efficacy and Safety of SYNB1934 in Patients with PKU

HMI-103-101: A Phase 1, Open-Label, Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-103 Administered Intravenously in Adult Participants with Classical PKU Due to PAH Deficiency

CAEB1102-301A: A Phase 3 Open-Label Study of Safety, Pharmacokinetics, and Activity of Weekly Subcutaneous Pegzilarginase in Subjects <24 months old with Arginase 1 Deficiency

CAEB1102-305: A Phase 3 Open-Label Study of Safety of Weekly Subcutaneous Pegzilarginase in Subjects <24 months old with Arginase 1 Deficiency

190999-PEACE (Pegzilarginase Effect on Arginase 1 Deficiency Clinical Endpoints): A Randomized, Double-Blind, Placebo-Controlled Phase 3 Study of the Efficacy and Safety of Pegzilarginase in Children and Adults with Arginase 1 Deficiency