Patient Registry

Enroll in the international Patient Registry for Blue Cone Monochromacy at www.BCMRegistry.org!

Blue Cone Monochromacy is a rare disease. The information collected in the Registry is an important contribution, expected to advance our understanding of the disease and to foster research into the treatment of BCM. Adults and children with genetic confirmation of BCM may participate in the BCM Registry. If you or your son are eligible, we encourage you to participate.

One, two and three … Three easy steps to enroll !

2019-2020 Results have been reported in the BCMRegistry-Poster-Final

 

1

Prepare documents a), b), c) and possibly d), e) and f)

a) For minors age 7 and older, print and sign BCM Registry Assent Form.
b) Prepare an e-copy of your/your son’s DNA test report.
c) Prepare a document with your family data: total number of people affected by BCM in your family – dead and alive -, and number of alive people affected by BCM in your family . If you have a family pedigree prepare an e-copy of it. Prepare a narrative description of who in your family is affected: grandfather, father, son(s), brother(s), uncle(s), cousin(s), for as far back as you can be sure of this information.

If your doctor is not in this list:
S.G. Jacobson, A. Iannaccone, J. Carroll, M. Michaelides, E. Martina, A. Hutchinson , S. Marchese
then:

d) Prepare an e-copy of your/your son’s clinical report.
e) Print, sign and scan UPenn Consent Form.
f) For minors age 7 and older, print, sign and scan UPenn Assent Form.

Step1.PDF

2

Create your account

  • Go to the bottom of the webpage www.BCMRegistry.org/patients/ and create your/your son’s account.
  • Click on the confirmation email.
  • Log in at www.BCMRegistry.org/login and give consent(s).
  • Insert Personal Data.
  • Go to Diagnosis subpage and upload document b), your/your son’s DNA Test Report.
  • Go to Clinician subpage and select from the list your clinician or, if there isn’t, select Dr. S.G. Jacobson.
  • Go to Family Data subpage and create your family ID, then insert from document c) numbers of total and alive people with BCM in your family.

Step2.PDF

3

Send an Email to Registry.Manager@BCMFamilies.org

Send an Email with:

  • A signed BCM Registry Assent Form for minors age 7 years or older – document a).
  • Family pedigree – if you have it – and/or a narrative description of who in your family is affected: grandfather, father, son(s), brother(s), uncle(s), cousin(s) – document c).

If you selected Dr. S.G. Jacobson as a Clinician, then add also:

Finally, be ready to send:

  • An e-copy of your/your son’s clinical report – document d) – to Dr. S.G. Jacobson via email.

You will receive an email back from the Registry Manager with approval information and a pedigree to be approved.

Step3.PDF

Forms and Contacts

This BCM Registry® is an online Patient Registry dedicated to a rare genetic retinal disease, Blue Cone Monochromacy. The Registry was created by BCM Families Foundation, a 501(c)(3) non-profit patient-led organization with the mission to cure BCM.

The BCM Patient Registry received funds from Otto per Mille della Chiesa Valdese.

Email us to Registry.Manager@BCMFamilies.org

BCMRegistry-Flyer-2020

2019-2020 Results have been reported in the BCMRegistry-Poster-Final

How to draw your family pedigree: Pedigree Explaination2a

BCM Registry Consent Form

BCM Registry Assent Form

UPenn Consent Form
UPenn Assent Form

Terms & Conditions

Privacy Notice to Patients

BCMRegistry-StepByStep-Instructions-New

BCM Registry Data Protection Impact Assessment (DPIA)