For patients, caregivers and medical professionals there is still inadequate knowledge and resources about causes, symptoms, quality of life and treatments for Bohring-Opitz Syndrome (BOS). A patient registry (PR) for collecting information about this rare condition is an opportunity to increase the knowledge about Bohring-Opitz Syndrome.
The BOS Foundation has started to work together with CoRDS (Coordination of Rare Diseases at Stanford) and is now member of NORD a 501(c)(3) organization. CoRDS created a patient registry for patients with BOS. CoRDS is a centralized international patient registry for all rare diseases that is headquartered in the United States. The goal of the CoRDS registry is to connect as many patients and researchers as possible. NORD, a patient advocacy organization in the USA, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
What is a Patient Registry?
Patient registries have traditionally been researcher-generated. A PR is an organized system for collecting data from multiple patients. It may collect information relating to:
- General information, such as age, sex, hospital, doctor;
- The diagnosis of a patient;
- The stage of the disease;
- Treatment received by the patient in the past, as well as now; and
- Information about the occurrence of the disease in the family of the patient and information about genetic conditions may also be relevant.
Why Participate in a Patient Registry?
A patient registry has the potential to reach the ultimate goal! The research of patient data could assist with the development of new or improved treatments, therapies and medications, patient registries have the potential to generate information about:
- The number of patients with Bohring-Opitz Syndrome worldwide;
- The evolution of the syndrome and the differences between affected BOS patients; as well as
- The various drug therapies that have resulted to be effective and/or not effective.
A patient registry allows researchers to monitor outcomes and study best practices of medical care and treatment. The information that is gathered about patients is still very useful to researchers, even if the patient decides not to participate in future research studies and/or clinical trials.
The results gained from a registry depends on the type and quantity of data that is gathered. Furthermore, the consistent collection of patient data facilitates the creation of standardized care, which can dramatically improves patient outcomes and life expectancy even in the absence of new therapies.
Ethical aspects
Registries are most useful if they are used for research. That means that the data should be made available to researchers and shared with medical professionals. The privacy of the participants is very important to prevent abuse. In addition the PR must take into account the different privacy regulations of different countries. Participants also should be informed about how their data is used, for example:
- Who has access?
- Under what conditions is access given?
- What kind of research data can be use?
- Who owns the data?
Obstacles for a Patient Registry
Patient-generated registries have been criticized on several levels. There has been concern that only a small minority of patients with sufficient education and ability are allowed to participate, which could result in biased data for a variety of reasons. There is also the concern that due to the limited number of (living) children with BOS worldwide, the resulting small data set may not draw valid conclusions. Therefore, a high participation rate is a must to ensure reliable results.
It is also important to note that patients with Bohring-Opitz Syndrome are still not being uniformly classified and registered. Bohring-Opitz is specified as “ICD 10 Q87.8”, which means “other specified congenital malformation syndromes, not elsewhere classified”. Finally, when collecting data from patients online, there is the possibility of fictitious misrepresentation – namely, that users are not who they appear to be. Patients on the site could be falsifying their identities entirely.
Requirements for a Patient Registry
Successful registries:
- Establish a clear research goal/objective for data collection;
- Establish well-defined and reliable methods of assessing responses;
- Provide adequate analysis of results;
- Link with corresponding biobank data;
- Allow the ability for data to be directly reported by patients, as well as by clinicians;
- Clearly define who has access and how the data is shared;
- Encourage the participation of patients from all parts of the world; and
- Offer the PR and generated results in multiple languages.
Conclusion
The patient powered patient registry which is the registry now started at CoRDS by the BOS Foundation is a long term project. The need for ongoing recruitment, encouragement, and gratitude for participation is essential for the success and reliability of the results. The ongoing promotion of the registry is very important. The unique position of trust held by patient-led foundations among patient and research communities enables them to create viable registries of active participants who are contributing to and using the information. Patient trust is essential.
The long term prospects of the creation of standards of care and improved patient outcome for longer life expectancy makes it worthwhile to participate and create a patient registry for Bohring-Opitz Syndrome.
Read more about the patient registry for Bohring-Opitz Syndrome at CoRDS on the website of the BOS Foundation or register here.
Bohring-Opitz Syndrome 