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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.

2019-2020-2021 Results have been reported in the BCMRegistry-Poster-2022-Final

2019-2020 Results have been reported in the BCMRegistry-Poster-Final (1)

To enroll in the BCM Patient Registry, please follow the tutorial:

Be prepared with the following documents and information:

A

Prepare documents 1), 2), 3) and, if necessary, 4)

1) For minors age 7 and older, print and sign BCM Registry Assent Form. Assent is available in English, French, Spanish, German and Italian language. Please ask to the Registry Manager at Registry.Manager@BCMFamilies.org for Assent in French, Spanish, German and Italian language.

2) Prepare an e-copy of your/your son’s DNA test report.

3) 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 – Pedigree-Explanation – 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. The Registry Manager can help you preparing your family Pedigree, write her Registry.Manager@BCMFamilies.org

4) If your doctor is in the following list, then select him/her inside the registry:

 
USA
Tomas Aleman, Scheie Eye Institute, Univ. of Pennsylvania, Philadelphia, PA
Jacque Duncan, UCSF Health, San Francisco, CA
Amy Hutchinson, Emory Eye Center, Atlanta, GA
David Birch, Retina Foundation of the Southwest, Dallas, TX
Marc Mathias, University of Colorado School of Medicine, Aurora, CO
Alessandro Iannaccone, Duke University and Astellas Pharma, US
Joseph Carroll, Medical College of Wisconsin, Milwaukee, WI
 
UK
Michel Michaelides, Moorfields Eye Hospital, London
 
Germany
Katarina Stingl, Center for Ophthalmology, University of Tübingen, Tübingen
 
France
Pierre Bitoun, Cabinet Médical Jarente, Paris
 
Spain
Cristina Irigoyen Laborra, CSUR Inherited Retinal Diseases, Donostia, Gipuzkoa
 
Italy
Cristiana Marchese, Retina Italia, Torino
Lucia Ziccardi, IRCCS Fondazione G.B. Bietti, Rome
Elisabetta Martina, IRCCS San Raffaele Scientific Institute, Milan

 

Otherwise, if your clinician is not in the previous list, please contact the Registry Manager at Registry.Manager@BCMFamilies.org. It could be important to prepare an e-copy of your/your son’s clinical report with diagnosis of BCM and your/your son’s last ophthalmological visit report.

B

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 2), your/your son’s DNA Test Report.
  • Go to Clinician subpage and select from the list your clinician or, if there isn’t, send an email to Registry.Manager@BCMFamilies.org
  • Go to Family Data subpage and create your family ID, then from document 3), insert numbers of total and alive people with BCM in your family – see also Pedigree-Explanation.
C

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 1).
  • 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 3) Pedigree-Explanation.

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

Forms and Contacts

The BCM Registry® is an online Patient Registry dedicated to a rare genetic retinal disease, Blue Cone Monochromacy. The Registry was created by the 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

2019-2020-2021 Results have been reported in the BCMRegistry-Poster-2022-Final

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

How to draw your family pedigree: Pedigree-Explanation

BCM Registry Consent Form

BCM Registry Assent Form

Patients Terms & Conditions

Privacy Notice to Patients

BCM Registry Data Protection Impact Assessment (DPIA)