Blue Cone Monochromacy Registry

FAQ


What is a patient registry?

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A patient registry is a collection of data about people with a specific disease who volunteer to provide information about themselves. Registries are made to increase understanding of a specific disease by providing doctors and researchers with first-hand information about the people with that disease, both individually and as a group. Registries can capture the demographics of a disease, identify patients for clinical trials, track clinical outcomes, and more.

In this case, the BCM Registry is for individuals with Blue Cone Monochromacy (BCM). The Registry aims to increase knowledge about:

  • Clinical features of BCM;
  • Natural course of BCM;
  • Long-term outcomes of BCM;
  • And ultimately help find a cure for BCM.

Who can take part in the BCM Registry?

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Adults and children with BCM may participate in the BCM Registry. You must have genetic confirmation of BCM. During registration, you have to upload your genetic test report and indicate who your doctor is. You will be enrolled after your doctor confirms your diagnosis. If your doctor doesn't confirm your diagnosis, you will not be able to participate in the Registry.

I am a BCM carrier. Can I participate in the BCM Registry?

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No. The BCM Registry is for individuals with a confirmed diagnosis of BCM only; carriers cannot participate. However, please encourage any family members with BCM to participate.

How do clinicians/doctors participate in the BCM Registry?

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The Registry is a patient-powered registry, i.e. patients enroll themselves and input their personal and medical data. However, for the data to be reliable and usable in research, we need clinicians to check and validate them.

If you are a clinician and have patient(s) with a diagnosis of BCM, please inform them about this registry and support their enrollment. If one of your patients asks you to participate in the registry, please sign up and complete the registration form. Then, you will be linked to your enrolled patient(s) and will be able to correct, change and/or update their clinical data. Once registered within the system, you will be able to access the data of all your enrolled patients as well as all aggregate data and statistics.

If you are a clinician and want to sign up for the BCM Registry, please read Clinicians Terms and Conditions and Privacy Notice to Clinicians/Researchers and then sign up.

Can researchers participate in the BCM registry?

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The BCM Registry was designed to help support basic, clinical, and epidemiological research into BCM and the development of new therapies. Therefore, researchers who are interested in studying BCM and need access to the patient population and their data are invited to register and submit their research ideas and objectives to the BCM Registry. Both basic and clinical research proposals are encouraged. Research proposals will be evaluated by the Registry Steering Committee.

If you are a researcher and want to sign up for the BCM Registry, please read Researchers Terms and Conditions and Privacy Notice to Clinicians/Researchers and then sign up.

What information will be collected in the Registry?

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The Registry will collect the following:

  • Personal information from individuals with BCM including, but not limited to, name, date of birth, city of birth, country of birth, address, phone number, and email address;
  • Information about your diagnosis of BCM including genetic test, vision tests, and exam results;
  • information about your personal and family health history as it relates to BCM.

How will the information be collected for the Registry?

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You will enter information into the Registry through a secure, password-protected website. Once you're registered (i.e. when your diagnosis and basic medical data have been validated by your doctor), you will be able to enter additional medical data. Results can be added to your record in the "Encounters" section; every time you have an appointment with your doctor, you and/or your doctor can add a "new encounter" to your record and enter new medical data. This ensures the information in the Registry is up-to-date and shows the course of BCM and its outcomes over time.

How will the information be stored in the Registry?

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BCMFF is committed to protecting the privacy of Registry Participants. All the information you provide will be kept in a secure online platform, and any personal information that could identify you and your family members will only be seen by the Registry staff and your selected doctor. Your name and other personal information on medical records that you upload to the registry will be hidden. Any information that could identify you will be removed from your data, then it will be pooled with the data of other Participants before it is shared with Researchers.

How does the informed consent procedure work?

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Participation in the BCM Registry is voluntary and subject to the informed consent process. People or parents/guardians of minors with a diagnosis of BCM, who want to take part in this Registry must read and check the consent forms knowing that they can change their consents at any time. There are 2 different types of consent forms to check, being only the type “A” necessary for participation:

A - Minimum consent - This consent is needed to participate to the BCM Registry and authorizes the BCMFF to collect, store, retain, use, and disclose the information provided by participants in accordance with the online Registry Privacy Notice. This consent allows the Registry Manager and your doctor to communicate with you regarding your/your child’s participation in the Registry;

B - Consent to receive communications sent from or on behalf of physicians, researchers, and health institutions or associations, biotechnology and pharmaceutical companies regarding potential clinical trials or research projects. Researchers will be enabled to send communications but will not be provided with identifying information about who is receiving the communications. You may respond to these communications and provide identifying information if you so choose. Providing your consent to receive communications is not required for participation in the Registry and if you decide not to give this consent there will be no consequences whatsoever.

How do I create my account in the BCM Registry?

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If you choose to participate or have your child to participate, you will need to create a username and password and provide an email address. Once your email address is confirmed, you will be guided through the registration process to:

  • Give your consent for participation in the Registry;
  • Provide your contact details;
  • Select your doctor. You can choose from a list of already-registered doctors or provide contact details if your doctor is not listed;
  • Upload your/your child's BCM genetic test report.

Then you enter a “waiting list” until your doctor confirms that you have BCM and validates your medical data. At that point you/your child becomes a Registry Participant.

As a Registry Participant, you can log in any time to change or update your data. You may also request that your doctor update your medical data after appointments.

What are the risks of taking part in the Registry?

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There is little risk in taking part in the Registry. BCMFF makes every effort to protect your identity, but there is a small chance that your personal and medical data, including the diagnosis of BCM, become available to someone outside the Registry. Even if this occurs, there is only a small chance of harm. In many countries, it is illegal for employers to discriminate against you based on genetic information. However, these laws do not protect you against, for example, companies that sell life insurance, disability insurance, or long-term care insurance; or from being contacted by drug/device developers who want to collect your opinions and/or enroll you in clinical trials.

Can I remove myself from the Registry?

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Your/your child's participation in the BCM Registry is voluntary. If you change your mind and want to remove your/your child's data from the Registry, you can do so without any explanation. Within the Registry menu, click “Delete my Participation”. Follow the instructions to remove all your/your child's personal and medical data, including any medical records you have uploaded.

If there is more than one person diagnosed with BCM in my family, can I create a family account?

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If more than one person in your family has BCM, the first family member who registers can create a family identification code. That person can give the family identification code to his family members, and they can use it during their registration process. Each family member who registers will have their own separate account, provide their own consent, and enter their own data. Family members with a shared family identification code cannot see one another’s data.

I forgot my Registry password. How can I retrieve it?

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If you lose or forget your username and/or password, you can reset here.
If you do not receive an email from the BCM Registry or if you forgot the email address used to register, please contact the Registry Manager at registry.manager@bcmfamilies.org

Please note that the reset process takes time, since the Registry Manager must approve your request to reset. Therefore we kindly advice users to store their BCM Registry credentials in a secure place where these can always be retrieved.

How do I contact the BCM Registry?

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If you have any doubts concerning your participation in the Registry or if you need any additional information that is not found here, please contact the Registry Manager at  registry.manager@bcmfamilies.org.