Head uudised angelmani sündroomi ravi rindelt

Mina ja mu tuttavad angelmom'id ehk väikeste inglite emad oleme ikka vaikselt pöialt pidanud, et juba mitu aastat tagasi välja käidud plaan angelmani sündroomile ravi leida lõpuks ometi teostuks või edasi liiguks. Ameerika teadlased nimelt tegelevad sellega praegu ja nii angelmani sündroomile pühendatud online ajakirjast Angelman Today'st kui erinevates angelmanide community'tes on olnud juttu mitmetest kliinilistest uuringutest, mille eesmärgiks ravile lähemale jõuda. Lootust annab see, et angelmani sündroomiga lastel nagu meie Juulike on vigane ainult üksainus geen, kust osa infot puudu (täpsustuseks veel seda, et osadel angelmanidel on geenimutatsioon ja osadel deletsioon ning ka deletsioonid on väga erinevad - Juulil on väga suur deletsioon, info puudub täielikult), ning seega tuleb tegeleda ainult selle ühe geeniga. Võrdluseks - autismi puhul on muutused paljudes geenides. Enamikes geenides on sisse lülitatud nii ema- kui isapoolne informatsioon, aga selles geenis on isapoolne info välja lülitatud ja kui emapoolne info on häiritud, siis tekibki angelmani sündroom. Kuna angelmani sündroomiga hiirtel on suudetud isapoolne info sisse lülitada, siis loodavad teadlased seda korrata ka angelmani sündroomiga inimeste peal.

Sel nädalal võttis minuga ühendust Kadri, ühe teise väikese ingli Markuse ema, ja edastas mulle järgmise inglisekeelse teksti, kus räägitakse lühidalt öeldes sellest, et teadlased on angelmani sündroomi ravile väga lähedal. Seal räägitakse lühidalt öeldes sellest, kuidas organismi on võimalik viia viirus (näiteks HIV) ja siirdada selle viiruse kaudu sinna puuduolev geen. Tehtaks seda süstiga.

 Seda rõõmsat infot jagas Facebookis ühe väikese angelmani Emma vanaema Allyson Berent:

„What was described in this CBS Sunday Morning segment is one of many ways gene therapy can work. This way was through the body's own blood stem cells in combination with a modified gene (good version of the gene they are missing) that is inside a virus (in this case HIV that is also modified so that it doesn't hurt you). This virus has this modified/missing gene inside it, and the virus infected the blood stem cell. So you give a blood, or bone marrow sample, then you take the stem cells out of it outside the body. Then you infect that cell with HIV which has the modified missing gene inside it. Then those blood stem cells (with the virus and gene inside) were injected into the person. These stem cells can get into the brain and help deliver yet virus to where this gene is needed. The virus is like a little factory and help the gene to produce the missing protein and then the brain can function as it should because the protein is no longer missing. Make sense? The virus is a vehicle to carry the missing gene into the brain. Now, the brain is a bit tough because not many things like to cross the "blood brain barrier" so this means that you need to have very special abilities to get into the brain. Either through stem cells (as in this case) or a modified virus (like adenovirus) where stem cells are not needed. It is important that the cells get into the brain in a high enough concentration so that the important parts of the brain get infected with the virus so they can get the gene. This means you might need an injection into the blood (that would be nice and easy, but usually doesn't give the highest concentrations), or into the spinal fluid (like a spinal tap), or even a small needle into the brain tissue (sounds scary but this has been done thousands of times for treatment of epilepsy and is apparently not a huge deal). 

So where do we stand in Angelman Syndrome? We are super close. We know this approach can rescue many symptoms in mice. We expect even more in humans because their learning capacity is so much stronger than a mouse. Now we are in the process of figuring out the best way to do this in humans. The best part of the gene, the best way to inject the virus, the best virus to use, the need for stem cells/or not, etc. There are many groups all working on this in collaboration to get to the bottom of this as fast as possible for all of our kids. This is huge, and is really hard, but the scientists are right there and they are amazing at their own work. They are so excited for us. This is what we are working day and night on...in addition to many other great approaches that are similar to gene therapy but more of "gene editing". We want all options in front of us so that we will find the BEST option. We are so lucky.”

Nii et... supertore tõesti! Hoiame arengutel silma peal ja anname kindlasti ka teile teada, kuidas ravi välja töötamine edeneb. Minu isiklik tagasihoidlik unistus oleks see, et Juulike kõndima ja rääkima õpiks. Kõik muu on boonus. Aga ikkagi... kas ma üldse julgen seda väljagi öelda... mis, kui Juulikesest võiks saada täiesti tavaline laps, täiesti tavaline inimene... no, see oleks ju... KÕIGE, KÕIGE PAREM ASI MAAILMAS. Hoiame pöialt edasi :).

Pildil meie väike tibu Juulike (4), kel on väga suur geenideletsioon, aga kes on sellele vaatamata istuma ja püsti tõusma õppinud.