A recent research study of intervention and developmental outcomes in DG:

A 3-year research study, entitled “Intervention and Outcomes in Duarte Galactosemia,” was completed
in 2018. This study was funded by the national non-profit organization Patient-Centered Outcomes
Research Institute (PCORI). The goal of this study was to establish a foundation of knowledge to
enable evidence-based decisions about DG. Specifically, this collaborative study tested whether
children with DG show increased prevalence of developmental difficulties compared to children who do
not have DG. This study also tested whether developmental outcomes among children with DG
associate with galactose (milk) exposure in infancy.

A total of 350 children, all ages 6-12 years old at the time of testing, participated in this study; 206 of
these children had DG and 144 did not. Of the children with DG, about 40% had consumed milk in the
1st year of life; about 60% had consumed low-galactose formula. All of the children were tested to
assess 73 different outcome measures representing 5 different developmental domains.

The results showed no significant difference between children in the study with DG and children in the
study who did not have DG with regard to difficulties in any of the outcome areas tested. The results
also showed no significant difference in developmental outcomes among children with DG in the study
who drank milk in their first year of life, and those who drank low-galactose formula.

To view a short video abstract about this paper, and/or to read the open-access paper published in
January 2019 in the journal Pediatrics that describes this study, please click here.

To see a companion piece written about the study, also published in Pediatrics in January 2019 (but not
open access, sorry), please click here.

To download a “plain English” summary about the study results, please click here.

The principal investigator of this study, Judith Fridovich-Keil, PhD, may be contacted at