The Early History of Universal Screening for Metabolic Disorders

The recruitment status of this study is unknown because the information has not been verified recently.
Verified April 2007 by University of Miami.
Recruitment status was  Active, not recruiting
Sponsor:
Information provided by:
University of Miami
ClinicalTrials.gov Identifier:
NCT00309400
First received: March 30, 2006
Last updated: April 19, 2007
Last verified: April 2007
  Purpose

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.


Condition
Phenylketonuria
Galactosemia
Inborn Errors of Metabolism

Study Type: Observational
Study Design: Observational Model: Defined Population
Time Perspective: Cross-Sectional
Official Title: The Early History of Universal Screening for Metabolic Disorders

Resource links provided by NLM:


Further study details as provided by University of Miami:

Estimated Enrollment: 10
Study Start Date: January 2006
Estimated Study Completion Date: July 2007
Detailed Description:

Universal neonatal screening programs for metabolic disorders constitute a triumph of medicine and public policy in the US over the last 50 years. State programs to identify and treat disorders such as and galactosemia have saved thousands of lives and prevented serious morbidity such hypothyroidism, phenylketonuria (PKU), as mental retardation . Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many new conditions. Although the benefits of such screening programs appear to outweigh their costs, some critics have pointed to historical examples that should make us wary of expanding universal newborn screening. For example, ethicist Norm Fost has stated that early screening programs falsely identified hundreds of children as having PKU or galactosemia, and that inappropriate treatment of these children led to death or severe neurodevelopmental impairment . As our nation weighs the risks and benefits of expanding newborn screening to a variety of metabolic and genetic conditions, it is critical to revisit the early years of universal screening programs. Did the extension of screening from at-risk populations to all newborns lead to substantial morbidity and mortality? If so, what can we learn from our past experience to inform our current plans to expand universal newborn screening?

We propose to examine the early history of universal screening for PKU and galactosemia in the US. 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 identify and obtain scientific publications and archival sources that document the early screening and treatment of these disorders. Lastly, we will conduct oral history interviews with key participants in the history of early screening and treatment of PKU and galactosemia. Oral history is a critical component of this project, providing information not available in any other format. Through oral history interviews, we hope to identify critical events, key people, and important collateral influencing issues.

The second phase of historical methods requires the scholar to identify key themes based on the historical record, then present preliminary findings to groups of scholars from a variety of disciplines. This academic exchange leads the PI to new resources and to refined key themes. The final phase of historical scholarship is preparation of written conclusions. As a result of this project, a historical article will be written for a peer-reviewed journal accessible to clinicians, researchers, and policy experts who are considering how best to expand universal metabolic screening.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • those who decline to be interviewed
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00309400

Locations
United States, Florida
University of Miami Mailman Center for Child Development
Miami, Florida, United States, 33101
Sponsors and Collaborators
University of Miami
Investigators
Principal Investigator: Jeffrey P Brosco, MD, PhD University of Miami
  More Information

No publications provided

ClinicalTrials.gov Identifier: NCT00309400     History of Changes
Other Study ID Numbers: 2005-7601
Study First Received: March 30, 2006
Last Updated: April 19, 2007
Health Authority: United States: Institutional Review Board

Keywords provided by University of Miami:
History
Phenylketonuria
Galactosemia
Screening
Treatment

Additional relevant MeSH terms:
Amino Acid Metabolism, Inborn Errors
Galactosemias
Metabolic Diseases
Metabolism, Inborn Errors
Phenylketonurias
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on August 01, 2014