New genetic eye disease discovered

Research & Development

Researchers from the National Eye Institute (NEI), part of the National Institutes of Health, have identified a new disease that affects the macula. The new type of macular dystrophy is a cause of central vision loss.

The macula is a small part of the light-sensing retina needed for sharp, central vision. Macular dystrophies cause central visual loss, due to mutations in several genes, including ABCA4, BEST1, PRPH2, and TIMP3.

“We found it surprising that two patients had TIMP3 variants not in the mature protein, but in the short signal sequence the gene uses to ‘cut’ the protein from the cells. We showed these variants prevent cleavage, causing the protein to be stuck in the cell, likely leading to retinal pigment epithelium toxicity,” said Bin Guan, PhD, lead author.

Rob Hufnagel, MD, PhD, senior author and director of the Ophthalmic Genomics Laboratory at NEI, elaborated: “Discovering novel disease mechanisms, even in known genes like TIMP3, may help patients that have been looking for the correct diagnosis, and will hopefully lead to new therapies for them.”

NEI’s Ophthalmic Genomics Laboratory gathers and manages specimens and diagnostic data from patients who have been recruited into multiple studies within the NEI clinical program, to facilitate research of rare eye diseases. This includes Sorsby Fundus Dystrophy, which causes similar symptoms to agerelated macular degeneration (AMD), though it generally affects patients at a younger age.

“Affected individuals had scotomas, or blind spots, and changes in their maculas indicative of disease, but, for now, they have preserved central vision and no choroidal neovascularisation, unlike typical Sorsby Fundus Dystrophy,” said Cathy Cukras, MD, PhD, a Lasker tenuretrack investigator and medical retina specialist who clinically evaluated the patients.

Eli Lilly’s tirzepatide achieves 15.7% weight loss in adult patients

Eli Lilly has announced that tirzepatide (10mg and 15mg) achieved significant and superior weight loss compared to a placebo over 72 weeks of treatment. This data follows results from the surmount-2 trial, which met all co-primary and secondary endpoints.

AstraZeneca and Ionis share positive results from phase 3 trial for eplontersen

AstraZeneca and Ionis have announced positive results from their phase 3 neuro-ttransform trial in patients with hereditary transthyretin-mediated amyloid polyneuropathy (attrv-pn), showing that the companies’ drug eplontersen met all primary and secondary endpoints at 66 weeks compared to an external placebo group.

AbbVie shares results from phase 3 trial for atogepant migraine treatment

AbbVie has shared positive results from its phase 3 elevate study, which assessed atogepant for the preventative treatment of episodic migraines in patients who have previously had two to four unsuccessful classes of oral preventive medications.

Eli Lilly shares positive results from phase 3 study of donanemab for early Alzheimer’s disease

Eli Lilly has announced positive results from the trailblazer-alz 2 phase 3 trial assessing donanemab’s ability to slow cognitive and functional decline in people with early symptomatic Alzheimer’s disease.

GSK announces positive data from phase 3 trial for new UTI antibiotic

GSK has shared positive data from its phase 3 trial for gepotidacin as a new oral antibiotic for the treatment of uncomplicated urinary tract infections (uUTIs) in female adults and adolescents.

Eli Lilly’s tirzepatide achieves 15.7% weight loss in adult patients

AstraZeneca and Ionis share positive results from phase 3 trial for eplontersen

AbbVie shares results from phase 3 trial for atogepant migraine treatment

Eli Lilly shares positive results from phase 3 study of donanemab for early Alzheimer’s disease

GSK announces positive data from phase 3 trial for new UTI antibiotic

Pharmafocus

Categories

Social Footprints