# Natural History Project

> **NIH NIH U54** · MAYO CLINIC ROCHESTER · 2022 · $365,131

## Abstract

NATURAL HISTORY PROJECT-ABSTRACT/PROJECT SUMMARY
Congenital disorders of glycosylation (CDG), a rapidly growing group of metabolic diseases characterized by an
abnormal glycosylation of biomolecules, were first described in 1980, but the first gene mutation underlying CDG
was only found in 1997. Exomic and genomic sequencing engendered a rapid discovery phase of more than 130
different CDG types. Clinical manifestations are variable within and among different types, so physicians from every
specialty will likely encounter patients affected by glycosylation defects. Still, limited natural history information is
available for the majority of CDG due to their novelty and individual rarity. Existing studies, mostly retrospective, are
subject to selection bias, missing data-points and validated patient-reported outcomes. These factors result in
knowledge gaps and clinical challenges in CDG treatments and clinical trial readiness. This project's purpose is to
perform a multidisciplinary long-term follow-up of a large group of individuals with CDG to define natural history,
validate patient reported outcomes and share knowledge on CDG.
Our clinical study team has functioned as a virtual expert consortium and will further collaborate by collecting
longitudinal data to assess biochemical characteristics, growth, cognitive function, organ system involvement,
medical management of symptoms, and patient reported outcomes, as well as morbidity and mortality of individuals
with CDGs.
To fill in our knowledge gaps in CDG, we will 1) establish the prevalence and severity of specific morbid indicators
such as organ system involvement, degree of cognitive disability, and case-fatality associated with various CDG
and to establish a dynamic platform to effectively disperse clinically relevant findings to families, non-expert
clinicians and researchers, as well as providing a verified method to link these individuals to experts in CDG; and 2)
validate the CDG rating scale and patient reported outcome /quality of life measures for CDG. During the follow up
we will collect and share samples for biomarker discovery and for bio-banking.
The impact of this study will be our increased understanding of CDG and improved care of affected individuals.
Natural history and progression studies will further elucidate the pathophysiology of disease and will be essential for
clinical trial readiness. Sharing samples and bio-banking will significantly improve diagnostics. Establishing clinical
trial outcome measures is essential for successful therapeutic development. This study will additionally enable
families and clinicians to access accurate current information empowering them to seek appropriate intervention.

## Key facts

- **NIH application ID:** 10480831
- **Project number:** 5U54NS115198-04
- **Recipient organization:** MAYO CLINIC ROCHESTER
- **Principal Investigator:** Christina Lam
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $365,131
- **Award type:** 5
- **Project period:** 2019-09-15 → 2024-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10480831

## Citation

> US National Institutes of Health, RePORTER application 10480831, Natural History Project (5U54NS115198-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10480831. Licensed CC0.

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