Information for Researchers

Information for Researchers

The purpose of the PKU registry is:

  1. To characterize and describe the PKU population as a whole and to gain a better understanding of the spectrum of clinical phenotypes in individuals with PKU of all stages. This includes but is not limited to collect information on: diagnosis, management, access to care, socio-economic environment and outcomes.

  2. To understand the longitudinal changes of PKU over a lifetime as well as to gain information on clinical practice patterns and variations over the course of treatment.

  3. To facilitate the development of best practice and management guidelines and recommendations to optimize care, improve quality of life and outcomes and standards of care.

  4. To provide information regarding ongoing research studies and clinical trials. Participants may consent to be contacted by researchers for recruitment into IRB approved studies.

 

Data collected will cover the following topics: diagnosis, treatment and diet, demographics, medical history, education, genetics, nutrition, exercise, Maternal PKU, insurance and mood.

 

Third parties may seek access to data in the PKU Registry. Third parties may include, but are not limited to, researchers or companies conducting retrospective studies or conducting research and/or clinical trials on new therapies. Third parties will only be granted access to registry information upon review and approval of the Advisory Board. Such approvals shall be obtained prior to providing access to registry information; shall be based upon considerations of scientific quality and validity; shall be granted for research studies related to PKU; and shall be documented. Third parties seeking access to registry information for retrospective studies will only have access to anonymous information identifiable only by the assigned unique identifier. Third parties seeking access to registry information for the purpose of determining eligibility for participation in a research study or clinical trial must demonstrate evidence of IRB approval of the research study for which access is being requested.

 

For additional information or inquiries, please contact us at: registry@npkua.org or at 715-493 - 0074.

For access to downloads of IRB approved PKU Registry Protocol and Informed Consent documents, contact us at: registry@npkua.org.