Clinical Research to Improve Outcomes for Children With Inborn Errors of Metabolism

Technology Overview

Dr. Christina Lam

Seattle Children’s is home to the only Rare Disease Center of Excellence in the Pacific Northwest, serving five states in the region. Christina Lam, MD, a pediatric rare disease physician and researcher, is the director of the center and head of the Seattle Children’s Biochemical Genetics Program.

Dr. Lam oversees a growing team of physician-scientists whose research focuses on developing therapies for children with rare inherited biochemical genetic conditions, including mitochondrial and peroxisomal disorders, Wilson’s disease, congenital disorders of glycosylation (CDG) and lysosomal storage diseases. The team strives to deliver therapies that go beyond supportive care and significantly change the natural history of disease and improve quality of life for patients.

Clinical trials, biobanks and rare disease knowledge

Dr. Lam and colleagues have the expertise and infrastructure to conduct phase 1 through phase 4 clinical trials with individuals who have ultrarare diseases. The physician-scientists specialize in connecting industry partners with patients and families who are ready to participate in small or N-of-1 trials.

The team has extensive experience in:

• Protocol development
• Regulatory and ethics approval including Investigational New Drug (IND) applications and Clinical Trial Agreements (CTAs)
• Participant recruitment
• All aspects of FDA compliance and data management including electronic data capture (EDC) systems

The Biochemical Genetics Program staff and clinicians work with pediatric patients and their families every day and are skilled in:

• Adhering to clinical trial protocols
• Obtaining patient samples and trial data
• Delivering medications via all administration routes, including infusion into the brain
• Handling and administering small molecule and gene therapies, enzyme and substrate replacement therapies, cell-based treatments and neurosurgical interventions

The Seattle Children’s biobank regularly shares samples, when appropriate, under material transfer agreements (MTAs). On-site laboratories stand ready to conduct diagnostic assays and biomarker and endpoint tests. The physician-scientists of the Biochemical Genetics Program have the resources and knowledge to analyze, interpret and report trial results.

Dr. Lam is one of only a few physicians in the United States with expertise in CDG. She is the Natural History Project Lead of the Frontiers in Congenital Disorders of Glycosylation Consortium. She collaborates on sponsored research projects developing innovative medicines for rare and ultrarare diseases. Her team currently leads one site in a multisite phase 2b trial of a substrate replacement therapy for the rare and life-threatening genetic disorder PMM2-CDG.

The team at the Seattle Children’s Biochemical Genetics Program is interested in industry partnerships to advance therapeutic options for patients with rare inherited conditions, from identifying targets and developing in vitro and in vivo models for preclinical research to conducting phase 1 through phase 4 clinical trials.

Stage of Development

• Clinical trial development

Partnering Opportunities

• Collaborative research and development
• Sponsored research agreement
• Service agreement
• Licensing agreement
• Consultation agreement
• Clinical data access
• Biobank access
• Clinical trials

Learn More

• Christina Lam, MD
• Seattle Children’s Biochemical Genetics Program
• Seattle Children’s Rare Disease Center of Excellence
• Frontiers in Congenital Disorders of Glycosylation

Publications

1. Lam C, Scaglia F, Berry GT, et al. 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;142(4):108509.
2. Verberkmoes S, Mazza GL, Edmondson AC,vLam C, et al. Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. Mol Genet Metab. 2025;145(1):109087.
3. Hall PL, Lam C, Wolfe L, et al. Biochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025;27(4):101328.

Last updated March 2026