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.

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Primary Goals of ODC Registries:

  1. Characterize the spectrum of symptoms and heterogeneity of disease presentation

  2. Establish rate of disease progression in the context of standard-of-care

  3. Inform clinical study design through endpoint validation

  4. Enable rapid clinical trial launch through site engagement and patient engagement

Registry Pipeline

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Planning & Research: The ODC seeks input from patients, caregivers, foundations, clinicians, and researchers in the rare disease community to understand their needs for a modern registry. This input is the foundation of our entire development process. To get involved at any time, please email us:

Patient Portals: Patient or caregiver reported outcomes (PROs) are important for understanding the clinical needs of a rare disease population and for determining whether therapeutics are clinically meaningful. The FDA calls for the integration of the patient voice throughout the life cycle of investigative products to better inform outcome measures. Each ODC Research Registry and Natural History Study has a Patient Portal to collect PROs and enable future trial recruitment.

Research Registries: Clinical data is important for understanding the standard-of-care and better characterizing each disease. Through our registry platform, we collect clinical data from standard-of-care visits. These data are collected from the same patients who have entered PRO data in the Patient Portal, providing a holistic view of the disease and the patient healthcare experience.

Natural History Studies: The goal of our natural history studies (NHS) is to collect clinical data under formal protocols, mirroring clinical trial studies. For ODC NHS, ODC acts as the coordinating site and manages protocol development, protocol submissions, activation of sites, financial oversight and site reimbursement.

IRB: Institutional Review Board, University of Pennsylvania

Language Translations: The goal of the ODC is to translate the registry into several languages. The community will be notified as translations are released.


Seed funding for the ODC IPR is provided by the Orphan Disease Center. However, to ensure sustainable, well-funded longitutinal studies, we are seeking support from industry, foundations, and gifts. Contact Ashley Winslow ( if you are interested in helping sponsor our growing registry efforts.

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:

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.