MacTel Project 2023 Annual Meeting Summary

February 6, 2024

The following information was sent out via email to people who registered in the LMRI Contact Database.  

The MacTel Project is an international research effort whose goal is to find the causes of, and treatments for, macular telangiectasia type 2.  The project was established in 2004 and is overseen by the Lowy Medical Research Institute (LMRI).

Clinicians, researchers, and other stakeholders involved in the MacTel Project meet annually to review progress and share information.  The most recent meeting was October 2023; this post provides an update for the broader MacTel community about the MacTel Project.  Our tremendous progress to-date would not have been possible without the support and involvement of MacTel-affected persons, their family members, and individuals without MacTel who have enrolled in the MacTel Registry and related studies.

 

How our understanding of MacTel has evolved:

  • Macular telangiectasia type 2 (MacTel) was initially described as a retinal vascular disease, which is a disease that affects a person’s blood vessels in the eye.  However, we now understand that MacTel is first and foremost a neuropathy, and damage to certain nerve cells in the retina (called “rods” and “cones”) result in decreased visual function.
  • MacTel may be considered a systemic disorder (related to other processes in the body, not just in the eye) but it most directly affects the retina and vision.
  • MacTel appears to be closely related to other diseases and disorders such as diabetes mellitus type 2, hereditary sensory and autonomic neuropathy type 1 (HSAN1), and metabolic diseases involving lipid (fat) disorders, among other conditions.
  • MacTel is a genetically complex disease, and there appears to be many genetic and environmental risk factors that contribute to disease development and progression.

 

News To Report: 

CNTF Implant: The NT-501 device is designed to continually release a small protein (CNTF) that protects the nerve cells in the retina to slow the progression of MacTel. The device has undergone three phases of clinical trials and has been demonstrated to be safe and effective.  The manufacturer of the device, Neurotech Pharmaceuticals, Inc. plans to submit the Biologics License Application (BLA) to the FDA in the next few months.

Serine Supplementation/Fenofibrate: A proof-of-concept study is nearing completion.  Its main purpose is to investigate whether taking a supplement of serine, an amino acid (a substance we get from food that can make proteins in our bodies), and/or fenofibrate (a cholesterol-lowering medication) may lower the levels of abnormal fat molecules that are believed to be a cause of damage to the nerve cells in the retina in MacTel affected persons. In addition, this study will confirm that serine and fenofibrate are both safe for use in MacTel patients.

At this point, we do not endorse the use of any products until clinical trials are completed. Since every substance could have untoward effects and effective dosages are not known, we recommend waiting for study results.

 

Future Directions:

The MacTel Research Group continues to expand research in new directions.

In the clinic, we are testing new types of imaging in MacTel patients, developing new functional tests, and generally expanding our clinical characterization of patients and controls, given what we have learned about the systemic nature of this disease.  We plan to engage more directly with patients and people interested in MacTel research through the Contact Database.  This, plus the MacTel Project NHOR Registry, will help us continue to learn about the patient experience, which informs the research.

In the laboratory, we continue to investigate both the drivers of disease and the downstream consequences that cause vision impairment. With these studies our aims are to determine specific treatments for MacTel broadly and/or subgroups of patients with distinct disease drivers.

Although we cannot comment on individual cases, we welcome your questions and comments. Feel free to communicate with us via clinical@lmri.net.

Thank you for your continued interest and participation.  We could not do any of this without you.

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