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.

Why should you participate in an ODC registry?

By sharing and allowing your data to be combined in a registry with other patients like you, researchers can better understand your rare disease. Importantly, the value of patient-reported data is now recognized among the medical and scientific communities as a key factor in ensuring outcomes that are meaningful to patients. Data collected in the ODC registries will be made available to researchers hoping to develop treatments and positively impact rare disease communities.

Click here to read about our International Registry Patient Groups.

cloud logo dark blue

Primary Goals of ODC Registries:

•    Characterize the spectrum of symptoms and heterogeneity of disease presentation

•    Establish rate of disease progression in the context of standard-of-care

•    Inform clinical study design through endpoint validation

•    Enable rapid clinical trial launch through site engagement and patient engagement

Registry Pipeline

200210 registry timeline


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:

Common Data Elements (CDEs): CDEs are the foundation of all ODC registries. They collect common data across all diseases, such as demographics, medical history and diagnosis. CDEs are leveraged for all registries to help drive down build-time and cost while also allowing for inter-disease analysis.

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.

Modules: Modules are data collection questionnaiers that are specific to each rare disease. The ODC establishes a Scientific Advisory Board (SAB) composed of patients, clinicians, and industry for each registry. The SAB advises on the development of modules.

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 Monique Molloy ( if you are interested in helping sponsor our growing registry efforts.

FINAL HD Infographic