Table 3 Model Consent Clauses for Rare Disease Research

1

Rare Disease Research Introductory Clause

The consent information below contains special features unique to rare disease research. There is often a need to: use audiovisual images; involve family members; share your information (inter-)nationally with clinicians and researchers; create reference databases; and look for those who are similar. Registries and databases will be created to put all participants and their families together so as to better understand your condition.

2

Familial Participation

Information about your family history will be collected and used to interpret your results and build a family tree (also called a “pedigree”). Creating a family tree will allow us to link or connect your personal health data with those of your family members.

If needed, fluid or tissue samples and relevant medical history may be taken from consented family members, such as your parents or siblings.

3

Audio/Visual Imaging

Audio/ images may be taken, if necessary, as certain physical features may be associated with specific conditions. It may also be helpful to use audiovisual imaging already taken [e.g. from your medical records and/or registries]. Often with rare disease research, the results will be used in teaching and publications. Efforts will be taken to protect your privacy, however, the risk remains that you might be identified.

4

Collecting, storing, sharing of data

Your collected data will be stored in databases or registries that meet security and safety standards.

Rare disease research often requires access to and the creation of large datasets. Therefore, your data will be shared with researchers and research databases after ethics approval. Such research can take place in universities, hospitals, non-profit groups, companies, and/or government laboratories.

Storing and sharing of data help to find people with the same condition or with similar clinical features (a process also known as “matching”). This may also help to better understand your condition and to facilitate recruitment for clinical trials, develop new tools, and improve diagnostics and therapies.

5

Recontact for matching

Since this study includes matching, if a potential match is found, you will be notified.

[add opt-in/out option if needed]

6

Data Linkage

In order to improve data completeness and to help interpret your data, we need to link your data from different sources (e.g. medical files, administrative health databases, registries, data from family members, etc.).

7

Return of Results to Family Members

It takes a long time to interpret research data accurately. Reports on research progress as well as general results will be made available via […..].

Please indicate below if you wish to be notified about individual results specific to you about the rare disease in your family.

[add opt-in/out option if needed]

If you have indicated that you wish to be notified about individual results, you will be contacted by […].

[Insert any time limitations affecting this notification].

In addition, [insert local return policy if necessary]

Due to the limitations of resources, your data may not be re-analyzed in the future.

8

Incapacity/Death

Your data are important for family members and for research on your condition. Therefore, your data will be kept and used even if you become incapacitated or die.

If you become incapacitated or die, you can name a person to be notified of results that are relevant to the health of your family members.

[Yes (Insert name of person to be notified) / No]

9

Benefits

You may or may not benefit from participating in this study. In rare disease research, because of the small sample size, the quality of the research and the possible benefits to you and your family and others with similar conditions requires: involving families; creating large datasets; sharing, linking and matching data; and using audio visual images.