DONATECases in the world
300
CHILDREN
Cases in Italy
25
CHILDREN
Age at first onset of symptoms
10/15
YEARS
Life expectancy
2/10
YEARS
LAFORA DISEASE
UNITED AGAINST LAFORA
Lafora disease is part of the Progressive Myoclonic Epilepsies group and is considered the most severe form of epilepsy.
It is a degenerative neurological disorder characterized by epileptic seizures, myoclonus, and cognitive decline.
It is caused by the malfunctioning of two proteins, Laforin and Malin. This malfunction is due to genetic alterations in one of the two genes, both located on chromosome 6: EPM2A and EPM2B.
This situation creates an error in glycogen metabolism, leading to its progressive accumulation in the brain.
CONTACTS
A DISEASE
THAT MAKES ITSELF KNOWN
The progression of the disease is devastating. Although a child is born with this disease, it typically does not manifest until adolescence. Children grow up normally, without noticeable problems, until they begin to experience seizures.
This is one of the cruelest aspects of Lafora. A normal, beautiful, and seemingly healthy teenager who has everything to live for is faced with nothing less than a “death sentence.”
The therapy is mainly palliative and aims to reduce the seizures.
There is currently no therapy that can slow down or stop the progression of the disease.
01
RECURRING SEIZURES
02
COGNITIVE DECLINE
03
LACK OF BALANCE
04
CONTINUOUS MYOCLONUS
05
DIFFICULTY WALKING
06
DIFFICULTY EATING
07
SPEECH DIFFICULTY
08
DEMENTIA
09
VEGETATIVE STATE
10
DEATH
THE STORY OF GIORGIO
GIORGIO IS ONLY 16 YEARS OLD
Giorgio is a 16-year-old boy, and for him and his family, there is no more time.
In September 2023, Giorgio was diagnosed with a rare degenerative neurological disease, Lafora. While he was preparing to face life’s challenges head-on, this disease stopped him in his tracks. And by stopping him, it turned his family’s life upside down.
For Giorgio and his family, there is no more time!
OUR GOAL
SUPPORT
THE RESEARCH
We need your help to raise the necessary funds to initiate the Phase 1/2 clinical trial (safety and efficacy) of a new ASO drug specifically created for Lafora disease.
1.5 MILLION DOLLARS.
10 PATIENTS.
2 YEARS OF TREATMENT.
The clinical trial requires two years during which families will need to bring their children to Dallas every three months. In addition to travel and accommodation costs, parents will have to cover the cost of the trial itself, which has been estimated at $150,000 per patient for two years of treatment.
WE WANT TO
RAISE
the necessary funds to initiate a clinical trial specifically designed for Lafora disease.
WE WANT TO BELIEVE
that it is possible to give hope to all the young people affected by Lafora disease.
WE WANT TO
SUPPORT
those who have chosen to dedicate their energy and expertise to research.
THEY TALK ABOUT US
DONATE YOUR
5X1000
TO RESEARCH
IN YOUR TAX RETURN, ENTER THE TAX CODE OF TEMPOZERO: 94154720307
OUR PARTNERS
