The Early History of Universal Screening for Metabolic Disorders

NCT00309400 | Completed

• 1 other identifier: 20057601
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Phenylketonuria; Galactosemia; Inborn Errors of Metabolism

Keywords

History; Phenylketonuria; Galactosemia; Screening; Treatment

Outcome Measures

Primary Outcomes (1)

• Historical report of PKU false positive morbidity/morality

  This study involved oral history interviews, so outcomes are qualitative

  After newborn screening began (1960)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Physicians and scientists knowledgeable about history of newborn screening

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

Sponsors & Collaborators

• University of Miami: lead
• HRSA/Maternal and Child Health Bureau: collaborator

Study Sites (1)

University of Miami Mailman Center for Child Development

Miami, Florida, 33101, United States

Location

MeSH Terms

Conditions

Phenylketonurias; Galactosemias; Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Carbohydrate Metabolism, Inborn Errors

Study Officials

• Jeffrey P Brosco, MD, PhD

  University of Miami

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Clinical Pediatrics

Study Record Dates

• First Submitted: March 30, 2006
• First Posted: March 31, 2006
• Study Start: January 1, 2006
• Primary Completion: January 1, 2008
• Study Completion: June 1, 2008
• Last Updated: August 20, 2014

Record last verified: 2014-08

Locations

US (1)