Patient Registries

The Orphan Disease Center collaborates with medical informatics company, Pulse Infoframe, to build a suite of rare disease patient registries using cloud-based technology. Our registries collect real-world demographic, clinical, and laboratory data in addition to patient (or caregiver) reported outcomes (PROs) from patients with rare diseases. Data is securely collected through online portals, centralized, and de-identified for use by the broader scientific community. The data collected in these registries is essential for understanding rare diseases and accelerating the development of new treatments.

The Orphan Disease Center's efforts in building an International CDKL5 Patient Registry were reviewed and approved by an External Advisory Committee. See here for an Executive Summary of the Committee's report.

Registry Development

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Funding for the ODC IPR is currently provided by the Orphan Disease Center, but we are seeking support from industry, foundations, and gifts. Contact Ashley Winslow (awinslow@upenn.edu) if you are interested in helping sponsor our growing registry efforts.

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Primary Goals of our Registries:

  1. To establish best practices in standard of care for rare diseases

  2. To inform clinical study design by enabling research through data sharing

  3. To represent patient needs and quality of life factors

  4. To enable rapid recruitment by connecting patients to clinical trials

Orphan Disease Center International Patient Registry

Patient Alliances

The Orphan Disease Center values the input of patients and caregivers in the build of our International Patient Registry. However, the rare disease population is geographically dispersed. Therefore, for each rare disease registry, we start by building an Alliance of caregivers, patient groups, and foundations.

For questions, or to tell us about a rare disease that does not yet have an Alliance or a Registry, please email us:

PSOM-ODCDatabase@pobox.upenn.edu.

Each rare disease Alliance serves as an umbrella organization to represent the caregiver voice through the following functions:

  1. Input from the Alliance will help design the ‘Patient Portal’ for each rare disease.

  2. The Alliance will help promote registry participation within patient communities.

  3. The Alliance will enable direct communication between caregivers and the ODC regarding the registry design.