MacTel Project 2021 Update


This past year has surely been an interesting and challenging one.  We hope that you and your family, friends, neighbors, and coworkers were able to weather the events safely. Despite the many challenges presented by the pandemic, all our investigators and clinical sites are to be commended for continuing to carry on the research and study visits using creative workarounds and increased preventative measures.

LMRI would like to take this opportunity to thank all MacTel Project participants for working with the study sites to provide telephone updates and completing study visits when it was safe to do so.

As you may know, the Lowy Family is the benefactor of LMRI and the MacTel Project. Sadly, Mrs. Shirley Lowy passed in December 2020.  She was a remarkably strong-willed, compassionate and intelligent woman. She and Frank enjoyed more than 60 years of marriage and life partnership and were a spectacular team. She was very supportive of the MacTel Project and LMRI, and attended annual meetings until recently, when her health prevented her from joining us. She passed peacefully, surrounded by immediate family.

This is an update provided by LMRI on the activities of the Institute, and activities of collaborating clinical and laboratory sites.

Natural History Registry (NHOR)

Due to the number of new sites added to the MacTel Project and enrollment for clinical trials, the number of active NHOR participants is over 2800.  To keep up with all the new information, we are slowing enrollment in the Registry.  Enrollment is continuing, but not every newly diagnosed person needs to enroll, especially as we are still dealing with the pandemic.  Affected persons with other affected family members, or individuals who also have neurological disorders such as HSAN1 or other unique conditions will be the priority.

Work continues with areas of interest such as disease staging, progression of the disorder, and similarities with other disorders such as diabetes mellitus and neurological disease.


Phase 1/2 CNTF Trials

The Neurotech Phase 1/2 clinical trials will end this year. The Phase 1 participants will have completed post-procedure visits through Month 108. That’s 9 years! The Phase 2 participants will have been followed for 72 months post-procedure: a remarkable 6 years.  Even with the pandemic and all that time in the study, the dropout rate is extremely low and usually due to other health issues.

LMRI and Neurotech have learned great deal of information regarding the efficacy and safety of the Neurotech NT-501 device in MacTel. We thank everyone involved, especially the participants.

Phase 3 CNTF Trial

The Neurotech Phase 3 CNTF trial was fully enrolled in August 2020.  We anticipate the study will be completed in August 2022. After completion, data will be analyzed and, hopefully, submitted to the FDA with request for approval of the NT-501 implant before the end of 2022.

Laser Study

The Laser Study, which uses a low energy laser to stimulate heat shock proteins to stop or slow the progression of MacTel, is almost completely enrolled.  This study is being conducted at a single site.  The available data are being analyzed to determine if there is a treatment effect.

Corneal Nerve Fiber (CNF) Study

LMRI will conduct a corneal nerve fiber study at three to four selected sites in a small number of patients.  Corneal confocal microscopy is a non-invasive imaging technique that allows the visualization of corneal nerve fibers.  This procedure may allow for detection of an underlying neuropathy, or nerve cell damage. Participants will be selected from Registry enrollees at those sites.

SAFE Study 

Investigators have discovered a potential link between MacTel and dysfunctional regulation of lipids. A short-term study is being planned to study two oral agents that may counter this. If an effect is found, a larger study investigating the effect of one or both treatments on disease progression may be carried out. Participants will be selected from Registry enrollees at four clinical sites.

Eye Donation

The Eye Donation Program, although technically outside the procedures of the Registry Protocol, is a very important aspect of the LMRI – MacTel Project.

LMRI was recently very fortunate to receive three eyes which are very precious gifts indeed.  Each specimen provides an enormous amount of data.

If you have any questions about the Eye Donation Program, please contact LMRI.


The LMRI Genetics Research Program has conducted a number of detailed studies that have now identified genetic mutations accounting for nearly 5% of MacTel patients’ disease. These results have been critical to our understanding of MacTel and, when analyzed along with metabolic and clinical results, will identify possible therapies and diagnostic tools useful for staging and assessing response to therapy for the disease. This work has led to a number of very exciting follow-up studies in collaborating laboratories.


Technology changes rapidly and this is especially true in the field of ophthalmology. New imaging systems provide researchers with a more detailed picture of the retina, and of the retinal changes caused by MacTel. Imaging is an important component of MacTel research. Following images of patients’ retinas over time helps us understand the natural course of the disease. Furthermore, assessing imaging findings in relation to functional measures allows us to better understand the complex relationship between structural changes and visual impairment.

Together, these data have helped researchers develop markers of disease progression and define early and advanced stages of the disease. These markers become tools in designing clinical trials and managing patient care.

Functional testing

People with MacTel have very specific problems with their vision.  Clinicians associated with the MacTel Project have been measuring patients’ functional deficits to better understand them. Research on MacTel-associated functional changes will assist clinicians in supporting and advising affected patients in their daily activities. Recent findings of note that may be helpful for MacTel patients in their daily routines include:

  • Patients with MacTel may suffer “visual confusion/double vision” while reading, which makes reading more difficult. MacTel patients may benefit from occluding or covering one eye while reading to prevent this double vision.
  • MacTel patients may have problems with depth perception that make it difficult to estimate distances.
  • MacTel patients have more difficulty seeing in low-light conditions and adapting to the dark. This may certain daily living tasks difficult, such as driving at night.


Registry participants may be called upon to take part in sub-studies.  Often these are one-time visits to obtain blood samples or have an imaging procedure. We are so thankful for the continuing participation of Registry participants in ongoing MacTel research. Occasionally, you may be asked to bring a family member or acquaintance who does not have vision problems to act as a “control”.


The past year has seen exciting new MacTel publications from clinicians and scientists affiliated with the MacTel Project.


Your input (questions, comments, concerns, ideas) are very important to the MacTel Project. Please feel free to contact us to share your thoughts.