RARE Toolkits

Below is a list of all of our current RARE Toolkits.

Participants’ Consent

Informed Consent for Research Participants

For a variety of reasons, patients may consider participating in a research study. This may be because of their interest in furthering an understanding of a disease that they have, or to get access to an experimental treatment. Though the process of informed consent for research participants will be similar to what patients go through for conventional treatments, it is generally more complicated because of additional issues that need to be weighed by the potential participant.

Participants’ Consent

During the informed consent process for a research study, there will be a discussion of a range of issues, such as the goals of the study, costs, risks, and compensation. Under federal regulations, according to the U.S Department of Health and Human Services, researchers are required to provide the following information to potential research participants:

• A statement that the study involves research, an explanation of the purposes of the research and the expected duration of the subject’s participation, a description of the procedures to be followed, and identification of any procedures which are experimental;
• A description of any reasonably foreseeable risks or discomforts to the subject;
• A description of any benefits to the subject or to others which may reasonably be expected from the research;
• A disclosure of appropriate alternative procedures or courses of treatment, if any, that might be advantageous to the subject;
• A statement describing the extent, if any, to which confidentiality of records identifying the subject will be maintained;
• For research involving more than minimal risk, an explanation as to whether any compensation and an explanation as to whether any medical treatments are available if injury occurs and, if so, what they consist of, or where further information may be obtained;
• An explanation of whom to contact for answers to pertinent questions about the research and research subjects’ rights, and whom to contact in the event of a research-related injury to the subject; and
• A statement that participation is voluntary, refusal to participate will involve no penalty or loss of benefits to which the subject is otherwise entitled and the subject may discontinue participation at any time without penalty or loss of benefits to which the subject is otherwise entitled.

Each institution conducting clinical research will have that work overseen by an Institutional Review Board (IRB) to see that it complies with ethical requirements. The IRB will determine what information is included in the informed consent form for a particular study and what else should be included.

Among the other information that should be considered during the informed consent process is whether there are any potential conflicts of interest that the researchers may have. This includes whether the researchers have equity in the company that owns a drug being tested, holds patent rights, is being paid by the study sponsor, or has other financial interest that could affect their interaction with participants with the study.

Registries and Privacy

Patient registries, online databases used for research purposes with information about patients with a specific disease, may provide fewer risks than most clinical studies, but may be a cause for concern for patients because of privacy issues.

Participants’ Consent

These databases gather such things as medical information about individual patients including family history and ongoing medical events. Patients are asked to update the information regularly. Though the information is detailed, the registries are de-identified, so the patient’s name, address, and other information that may identify the patient is coded and unavailable to researchers.

Nevertheless, because rare diseases affect small populations, it is possible that a patient may be identifiable through the medical history. It is also possible that the database could be breached. If a researcher is conducting a study that a patient in the registry may be an appropriate participant, the registry will reach out to the patient on behalf of the researcher. For more information about registries, see the upcoming Global Genes Toolkit “Rare Disease Registries: Advancing Disease Understanding, Treatments and Cures.”

Children and Consent

Because rare diseases often involve children who are too young to legally provide their own informed consent, their parent or legal guardian must provide it. Nevertheless, an IRB may determine that children who are able to do so, should be involved in the informed consent process and provide their approval in addition to the consent from the parent or legal guardian. Though most states consider 18 as the age of adulthood, it does vary. There are also circumstances that may permit someone younger than the legal age of adulthood to provide their own consent to medical procedures.

Even in cases where a child is too young to provide consent, an IRB may deem it necessary for the child to provide informed consent if a child participating in a study reaches the age of adulthood while it is ongoing. Parental permission and child assent are not equivalent to legally effective informed consent for the now-adult subject, according to HHS.

One parent of a child with a rare disease noted that the issue of informed consent for a clinical trial can be complicated in cases of divorce, which is prevalent among parents of children with special needs. In such cases, unless clear legal authority is given to one parent, researchers may feel it is necessary to get informed consent from both parents, particularly if it is for an experimental treatment carries significant risks. These parents may find that they are in disagreement on the correct path to pursue and must find a way to reach a decision that is in the best interest of the child.