Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, Jeffrey Krischer, Hye-Seung Lee, Cynthia Lemons, Matthias Baumgartner, Stephen Cederbaum, George A Diaz, Annette Feigenbaum, Renata C Gallagher, Cary O Harding, Douglas S Kerr, Brendan Lanpher, Brendan Lee, Uta Lichter-Konecki, Shawn E McCandless, J Lawrence Merritt, Mary Lou Oster-Granite, Margretta R Seashore, Tamar Stricker, Marshall Summar, Susan Waisbren, Marc Yudkoff, Mark L Batshaw, Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, Jeffrey Krischer, Hye-Seung Lee, Cynthia Lemons, Matthias Baumgartner, Stephen Cederbaum, George A Diaz, Annette Feigenbaum, Renata C Gallagher, Cary O Harding, Douglas S Kerr, Brendan Lanpher, Brendan Lee, Uta Lichter-Konecki, Shawn E McCandless, J Lawrence Merritt, Mary Lou Oster-Granite, Margretta R Seashore, Tamar Stricker, Marshall Summar, Susan Waisbren, Marc Yudkoff, Mark L Batshaw

Abstract

The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases. This paper reviews the UCDC's accomplishments over the first 6years, including how the Consortium was developed and organized, clinical research studies initiated, and the importance of creating partnerships with patient advocacy groups, philanthropic foundations and biotech and pharmaceutical companies.

Conflict of interest statement

Conflict of Interest statement

None of the authors on this article have any relevant financial relationships with commercial interests.

Published by Elsevier Inc.

Figures

Figure 1. The Urea Cycle Disorders Consortium…
Figure 1. The Urea Cycle Disorders Consortium (UCDC) within the context of the Rare Diseases Clinical Research Network (RDCRN)
DSMB-data safety and monitoring board; PRC-protocol review committee; CPAG-patient advocacy group; NUCDF-National Urea Cycle Disorders Foundation; DMCC-data monitoring and coordinating center.
Figure 2. UCDC Geographical Coverage
Figure 2. UCDC Geographical Coverage
CHB-Children’s Hospital, Boston; YSM-Yale School of Medicine; MSSM-Mt Sinai School of Medicine; CHOP-Children’s Hospital of Philadelphia; CNMC-Children’s National Medical Center; VUMC-Vanderbilt University Medical Center; CWRU-Case Western Reserve University; UMN-University of Minnesota; TCH-The Children’s Hospital; BCM - Baylor College of Medicine; UCLA-University of California, Los Angeles; OHSU-Oregon Health Sciences University; UW-University of Washington (Seattle Children’s Hospital); HSC-Hospital for Sick Children, Toronto; UZH-University of Zurich Kinderspital
Figure 3
Figure 3
Organizational Structure of the Urea Cycle Disorders Consortium
Figure 4
Figure 4
The Urea Cycle
Figure 5
Figure 5
Actual Accrual vs. Expected Accrual per Longitudinal Study. Data current as of July 31, 2009. Target Enrollment to Date: 294; Enrolled to Date: 352
Figure 6
Figure 6
Hyperammonemic Episode Triggers (n=1084 episodes). Data current as of July 31, 2009
Figure 7
Figure 7
Self-reported developmental disabilities and psychiatric disorders in enrolled participants. Data current as of July 31, 2009
Figure 8
Figure 8
IQ of Adult Participants (17+) Experiencing Hyperammonemic (HA) Episodes vs. No Hyperammonemic Episodes (FSIQ – Full Scale IQ; VIQ – Verbal IQ; PIQ – Performance IQ)
Figure 9. Cognitive Range Across All Subjects…
Figure 9. Cognitive Range Across All Subjects Ages 3–16: Early vs. Late Onset and by Diagnosis*
*Includes estimated IQ scores for children unable to complete testing in their age range. Excludes lowest functioning children who were unable to complete the test battery in their age range.
Figure 10
Figure 10
Possible Age Effects on IQ

Source: PubMed

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