The Early History of Universal Screening for Metabolic Disorders

Completed

Conditions studied: Phenylketonuria, Galactosemia, Inborn Errors of Metabolism

In brief

We are doing this study to learn more about the early history of universal screening for metabolic disorders such as PKU and galactosemia. In particular, we are interested in learning from our past experience to inform our current plans to expand universal newborn screening. Following standard historical research methodology, we will begin with a review of the historical scholarship on PKU and galactosemia, including more general works on mental retardation, genetics, public health screening, and metabolic disorders. We will also obtain scientific publications and archival sources on the early screening and treatment of these disorders. Lastly, we will conduct oral history interviews with key participants in teh early screening and treatment of PKU and galactosemia.

Key facts

Study ID

NCT00309400

Run by

University of Miami

People needed

10

Starts

2006-01-01

Expected to finish

2008-06-01

Last updated by the study team

2014-08-20

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• participants in the history of early screening and treatment of PKU and galactosemia

You may not qualify if…

• those who decline to be interviewed

Where it is running

• University of Miami Mailman Center for Child Development — Miami, Florida, United States

Full record on ClinicalTrials.gov

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