The International Center for Polyamine Disorders has an established, IRB-approved research protocol that is actively enrolling patients at Corewell Health West & Helen DeVos Children’s Hospital in Grand Rapids, MI, USA. The primary objective of the study is:
• To provide a mechanism for the enrollment of patients with both known and suspected polyamine disorders and their immediate biological family members to collect high-quality serial biologic specimens with correlating health information for use in future polyamine-related laboratory studies.
Secondary objectives of the study are:
• To establish a research biorepository of deidentified samples and correlating clinical data from patients with either a known or suspected polyamine disorders and their immediate biological family members, and
• To facilitate future polyamine disorder research through collaborative utilization of stored specimens and data.
Patients unable to travel to Grand Rapids, Michigan can be consented virtually via Microsoft Teams and biological research samples can be collected and processed remotely and shipped to the ICPD biobank. Research samples collected typically consist of a one-time blood collection. Anyone interested in participating in the research study should reach out to:
Elizabeth VanSickle
Scientist, Corewell Health
Email: Elizabeth.vansickle@helendevoschildrens.org
The Bachmann Lab at Michigan State University and the Casero Lab at Johns Hopkins University are ongoing collaborations with the ICPD and were recently awarded a 5-year R01 grant through the National Institutes of Health (NIH) titled “Leveraging modulation of polyamine metabolism for therapeutic advantage in genetic disorders”. The Bachmann Lab performs basic bench research on Bachmann-Bupp (BABS) and Snyder-Robinson (SRS) patient samples and the Casero Lab performs basic bench research on SRS patient samples. Neither lab receives any patient identifiers or PHI and a fully executed reliance agreement with MSU is in place. All samples sent to Michigan State University and Johns Hopkins University are completely deidentified. The overall goal of this collaboration is to elucidate the underlying molecular mechanisms of BABS and SRS, another polyaminopathy, using both existing and new murine disease models as well as patient-derived cells, blood, and tissue samples for in-depth studies, providing essential information for advancement of effective new therapies for these human genetic disorders.
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