For Medical Professionals

The information in this section is specifically designed to provide information for medical professionals treating patients with choroideremia or scientists researching CHM.

Clinical Differential Diagnosis

Choroideremia (CHM)
vs
Retinitis Pigmentosa

Free Genetic Testing through Project CHM

The Choroideremia Research Foundation is happy to announce that for a limited time, FREE genetic testing is available to anyone who has received a clinical diagnosis of CHM but has not undergone genetic testing. This has been made possible through funding by the CRF and a generous donation by PTC Therapeutics (www.ptcbio.com). Anyone interested in being part of a Clinical Trial or eventually being treated for CHM must have a Genetic Test confirming their CHM diagnosis.

To have free genetic testing performed through Project CHM, you can follow the following steps:

  1. Download the Project CHM Genetic Testing Voucher. The completed form will be sent with your patient’s blood sample.
  2. Complete the online request form at Carver Lab for your patient. For method of payment, select “Voucher”.
  3. Have a blood sample drawn and sent to the Carver Lab including the voucher.
  4. In an effort to increase insurance reimbursement for genetic testing, we are asking all Project CHM participants to submit their testing to their insurance company. Patients will receive an invoice from the Carver Lab marked PAID and should file this with their insurance carrier upon receipt.
  5. CRF is also asking all Project CHM patient participants to register with the CHM Patient Registry by clicking on your preferred language to register English, French, German, Portuguese, or Spanish– the Patient Registry takes less than 5 min to complete.

Physicians should receive results from the genetic testing within 3 months to share with their patients. If results have not been received within 3 months, please follow up with the Carver Laboratory.

If positive results are confirmed, as CHM is an inherited retinal disease, other family members should also be considered for testing.

Please note that the voucher expires on December 31, 2019. Subject to available funds, this program may be extended so feel free to check back after this date.

Project CHM is a collaborative program between the CRF and the Carver Laboratory at the University of Iowa to provide genetic testing for those affected with CHM. The Carver Laboratory is a certified non-profit laboratory that offers low-cost genetic testing for people with retinal diseases like CHM, and the CRF is proud to partner with them to assist people affected with CHM to complete genetic testing.

If you have diagnosed any patients with Choroideremia, it is important to have the diagnosis confirmed through genetic testing. A genetic test is typically performed on a blood sample and identifies the specific genetic mutation in the CHM gene. A positive genetic test with a mutation in the CHM gene provides confirmation that your patient has CHM and not another similar retinal disease. Genetic testing is mandatory for those who want to be enrolled in a clinical trial or other research study on CHM.

Clinical Trials

While there is no current treatment or cure available for Choroideremia, there are a number of clinical trials currently underway testing potential treatments for CHM. Individuals interested in being part of a clinical trial, or eventually being treated for CHM when a treatment or cure becomes available will need to have had a genetic test to confirm their diagnosis of Choroideremia. These tests involve a simple blood draw that is sent off to an accredited lab where a diagnosis of CHM can be confirmed at a genetic level. Please note that any information regarding clinical trials or genetic testing is being provided for informational purposes only. The Choroideremia Research Foundation does not endorse any specific company or clinical trial. Please discuss any questions you may have with your healthcare provider.

A number of clinical trials and natural history studies for Choroideremia are currently available and listed on the National Institutes of Health’s clinicaltrials.gov website.

Research BioBank

In 2014, CRF established a Choroideremia BioBank in order to expedite CHM research globally with readily accessible CHM cellular samples for preclinical research. Coriell Institute’s NIGMS Human Genetic Cell Repository houses these CHM lines, all of which have passed their stringent verification and quality control protocols. The CHM lines include hiPSC, fibroblasts, DNA, LCL and skin.

Access to these cell lines in the CHM BioBank are via www.coriell.org. For a listing of the CHM cell lines click the button below.

CHM Cell Line Listing
Coriell Institute logo

NIGMS National Institute of General Medical Sciences

Mailing Address
Coriell Institute for Medical Research
403 Haddon Avenue
Camden, New Jersey 08103, USA

Email
customerservice@coriell.org

Phone(856) 966-7377

United States,(800) 752-3805
World, (856) 757-4848

For additional information on other CHM cell lines and animal models, contact Chris Moen, MD, CRF Chief Medical Officer, at chrismoen@curechm.org

Other Research Resources

Visit Google Scholar

Google Scholar provides a simple way to broadly search for scholarly literature.

Visit PubMed

PubMed comprises citations for biomedical literature, life science journals, and online books.

CHM Standards

CHM Standards is an online collaborative resource with the goal of establishing and maintaining recommendations for the development of clinical trial designs and endpoints that incorporate the patient community perspective for therapies designed to stop or slow the loss of retinal structure in choroideremia (CHM) patients.

Visit CHM Standards
Choroideremia Research Foundation logo icon in white

Join the CRF Scientific Advisory Board

If you are interested in joining our Scientific Advisory Board, please contact:
Dr. Chris Moen, Chief Medical Officer at (800) 201-0233 x 2 or chrismoen@curechm.org for more information.

Apply for Funding

Our objective is finding a cure or effective treatment for choroideremia. 

Accomplishing this goal relies on:

  • Research that provides essential resources and knowledge for the field (e.g. model systems, understanding genetic underpinnings, annotated patient specimens)
  • Innovative research that opens new pathways for diagnosis and drug discovery
  • Promising projects that are less likely to get traditional funding such as:
  • Seed funding that could yield breakthrough benefits for patients
  • High quality projects proposed by young investigators 
  • Foundational projects with an important but long-term payoff

If you are interested in applying for funding please send a one page letter of inquiry addressed to:
Chris Moen, MD, Chief Medical Officer at chrismoen@curechm.org. LOI’s are accepted on a rolling basis.

DONATE

The search for a cure to CHM is not possible without our generous supporters.