Tag: Know Your Gene

‘We know how important it is to know your gene. We’ve lived it.’

It took more than seven years to get a genetic diagnosis for our daughter. During that time, doctors were pretty sure she had LCA, although we also heard that maybe she had cone-rod dystrophy or perhaps Stargardt’s Syndrome. We argued with insurance over genetic testing, paid out-of-pocket, took time off work and school for trips out of state and sent blood work all over. Still, no one could give us a genetic diagnosis. Some labs never even bothered to return phone calls to tell us if they had any results.  

And then things changed. More genes had been identified and there were new and better ways of genetically diagnosing IRDs. Finally, in 2013, I we received a confirmed diagnosis for Sofia.

Flash forward another five years to today and there are even more changes. While many aspects of obtaining a genetic diagnosis are still challenging, thanks to continued research, increased awareness, and accessible testing programs, it’s no longer a seven-year ordeal. Patients can get tested today without incurring travel expense and are much more likely to receive a confirmed genetic diagnosis.  

Thanks to donations to our organization, we have been able to support accessible genetic testing for families. Thanks to our donors and supporters, we are also able to provide outreach and education to families, driving awareness and access for genetic testing and encouraging participation in natural history studies and patient registries.  

Our awareness campaign this year is Know Your Gene: Get Tested, Get Connected.  Knowledge is power and we are helping more families get tested so they can receive their genetic diagnosis and then connect in ways that will accelerate research for treatments and cures for IRDs. We want to stress the importance of connecting to a patient registry or a genetic counselor. We want to help families and individuals find each other for support and sharing of information. And we are driving those programs and communications that will continue to advance cures for blindness.

We know how important it is to know your gene. We’ve lived it.

#KnowYourGene: AGTC Working On Multiple IRD Treatments

Applied Genetic Technologies Corporation (AGTC), a clinical stage biotech company that focuses on rare inherited retinal diseases (IRDs), develops therapies that replace “broken” genes with normal functional genes – treatments that allow a patient’s own body to produce proteins to treat their disease.

As a headline touts from an AGTC website story: “Imagine That the Power to Beat Genetic Disease Lies Within Us.”

The work that companies such as AGTC undertake serves to underscore the importance of genetic testing in the treatment of rare inherited retinal diseases. This month, Sofia Sees Hope has launched a #KnowYourGene campaign in advance of International Rare Disease Day on Feb. 28.

A clinical diagnosis of a named disease is not enough to help find cures and treatments for these and other rare IRDs.

For meaningful and productive research to advance, patients need to take the most important step to help further research into correcting the mutated genes affecting their vision:

  • Get a definitive genetic diagnosis of their eye condition with genetic testing. Talk to your doctor about ordering a test through one of several laboratories or contact Foundation Fighting Blindness (FFB) about free testing.

Genetic testing is key

AGTC (headquartered in Alachua, Fla., with offices in Cambridge, Mass.) strives to get the word out through their patient advocacy work headed by Jill Dolgin, Pharm.D. The company partners with Hope in Focus (formally Sofia Sees Hope (SSH)), which helps fund FFB’s free genetic testing and genetic counseling program.

A priority for AGTC is to find and educate people with rare inherited retinal diseases and encourage them to get genetic testing. Patients with the same gene mutations studied by AGTC could potentially participate in one of their clinical trials.

The company also is collaborating with advocacy groups to inform individuals with the conditions for which AGTC is conducting clinical research, including:

  • Achroma Corp. , an organization providing support and education to those affected individuals and families with Achromatopsia
  • MomsForSight, which provides information to affected individuals and families with X-Linked Retinoschisis
  • Foundation Fighting Blindness of US and Canada
Applied Genetic Technologies Corporation (AGTC), a clinical stage biotech company that focuses on rare inherited retinal diseases (IRDs), develops therapies that replace “broken” genes with normal functional genes – treatments that allow a patient’s own body to produce proteins to treat their disease.

AGTC also reaches people with rare inherited retinal diseases through online and print articles, social media, medical publications, national vision conferences and their website.

What’s in the pipeline

The conditions for which treatments are under Phase 1 and Phase 2 clinical investigation include:

X-linked retinoschisis (XLRS) is the leading cause of macular degeneration in males. An inherited form of retinal degeneration affecting young males, patients affected by XLRS present with poor vision by school age. Visual acuity usually worsens during the teenage years and then can lead to serious complications such as vitreous hemorrhage or retinal detachment during adulthood.

Mutations in the RS1 gene cause early onset retinal disease. In animal models of XLRS, treatment with an AGTC gene-therapy candidate leads to long-term improvement in retinal function and preventing retinal cell degeneration. Based on preclinical proof-of-concept data, AGTC is conducting a clinical study to evaluate the safety and efficacy of an investigational gene therapy in patients with XLRS.

Achromatopsia causes visual acuity loss, extreme light sensitivity resulting in daytime blindness and reduced or complete loss of color distinction. About 75 percent of cases are associated with mutations in the CNGB3 and CNGA3 genes, also known as ACHM B3 and ACHM A3 genes, respectively. The company is currently evaluating a gene therapy in a Phase 1/ 2 trial for individuals diagnosed with Achromatopsia caused by mutations in either the CNGB3 gene or CNGA3 gene.

To better understand the condition, researchers from the University of Pennsylvania School of Veterinary Medicine and the Michigan State University College of Veterinary Medicine filmed a dog with ACHM B3 unsuccessfully trying to navigate a maze. Four months later, after receiving gene therapy treatment developed by AGTC, the pooch easily finds its way through the maze.

Check out the video showing how sheep affected by achromatopsia due to ACHM A3 mutations also were able to successfully navigate a maze following gene therapy administration.

X-Linked Retinitis Pigmentosa (XLRP) is an inherited condition that causes progressive vision loss in boys and young men. Symptoms begin with night blindness in young boys followed by progressive constriction of the field of vision. Affected men become legally blind at about 45 years of age, on average. AGTC is currently recruiting for a Natural History Study, intended to gather information about the condition over time for a better understanding of the disease’s progression and its effect on the individual’s quality of life, and for a Phase 1/ 2 clinical trial.

AGTC is committed to advancing clinical programs to deliver novel gene-based therapies for rare conditions without any available treatment options. The company would like to express its deep appreciation to patients who have participated in their clinical trials and is grateful to its partners for their dedication and continued support.