IN YOUR HEALTH - THE FIRST
GENE THERAPY FOR A GENETIC
DISEASE IN THE UNITED STATES.
AND AS NEWS 8 MEDICAL REPORTER
JOCELYN MAMINTA EXPLAINS - IT
HAS A CONNECTICUT CONNECTION.
ANUMBER OF FIRSTS -- LINKED
TO A TREATMENT -- DESIGNED TO
IMPROVE THE SIGHT OF PATIENTS
WITH A RARE FORM OF BLINDNESS.
A CONNECTICUT ADVOCACY GROUP
-- WAS AMONG THOSE AT THE
FOREFRONT OF GETTING THE F-D-A
TO APPROVE IT. YOU FIRST MET
SOFIA PRIEBE WHEN SHE WAS
JUST TEN YEARS OLD -- IN A
STORY RAISING AWARENESS OF HER
RARE DEGENERATIVE GENETIC
CONDITION. SHE WAS BORN WITH
SEVERE VISION LOSS -- THAT CAN
LEAD TO TOTAL BLINDNESS.
"HARD TO SEE THINGS THAT ARE F
AR AWAY OR WHEN ITS REALLY
BRIGHT OUT." MOM, LAURA
MANFRE -- CO-FOUNDED SOFIA
SEES HOPE SOON AFTER -- AN
ADVOCACY GROUP TRANSFORMING
THE LIVES OF THOSE LIVING WITH
RARE INHERITED RETINAL
DISEASES - 'IRD'. HER
TESTIMONY BEFORE AN F-D-A
PANEL -- HELPED PAVE THE WAY
TO THE APPROVAL OF LUXTURNA --
THE FIRST DRUG TREATMENT FOR
PEOPLE WITH IRD. AND --
THERE'S MORE. "THIS
IS LIKE THE MOON LANDING FOR
SCIENCE. THIS IS THE VERY
FIRST GENETIC THERAPY FOR
GENETIC DISEASE APPROVED FOR
MARKET IN THE UNITED STATES."
BUT -- SOFIA -- NOW 14 YEARS
OLD -- WILL NOT BE AMONG THOSE
WHO WILL BENEFIT."THIS
TREATMENT IN FOR HER GENE.
HER GENE IS UNFORTUNATELY A
LITTLE BIT MORE COMPLICATED."
PATIENTS WHO CAN TAKE
ADVANTAGE OF IT -- WILL BE
INJECTED WITH THE DRUG. "WITH
LUXTURNA -- WE ARE FINDING
THAT WE CAN ACTUALLY RESTORE
TO SOME DEGREE VISION, AGAIN
IT'S EARLY STAGES." DR. GEORGE
ADRAIN IS ON THE BOARD OF
DIRECTORS FOR THE NON-PROFIT.
'IT CORRECTLY CODES THE
DEFECTIVE GENETIC SEQUENCE AND
RESTORING THE PHOTO RECEPTOR
INTEGRITY SO THE EYE CAN
FUNCTION AGAIN. THE HOPE IS
-- THE RESEARCH BEHIND THE
BREAKTHROUGH TREATMENT -- WILL
LEAD TO DEVELOPING DRUGS --
THAT COULD SOMEDAY HELP OTHER
PATIENTS LIKE SOFIA.THE F-D-A
APPROVAL -- UNDERSCORES MUCH
NEEDED RESEARCH AND FUNDING
FOR RARE CONDITIONS. FOR
MORE INFORMATION ABOUT
LUXTURNA AND SOFIA SEES HOPE
-- DOWNLOAD OUR FREE NEWS 8
APP OR HEAD TO OUR WEBSITE -
WTNH DOT COM. JOCELYN
MAMINTA, NEWS 8
