ADNP Kids Research Foundation
is the largest funder
of ADNP syndrome research in the world.
is the largest funder
of ADNP syndrome research in the world.
The ADNP Kids Research Foundation aims to ensure this devastating conditions receives the research attention and funding it requires and deserves.
|
Our Research Strategy
ADNP Kids Research Foundation has developed a research strategy that aims to maximize the impact of the funds we invest, and identifies research areas that provide the greatest scientific advances toward treatments, a cure and the most relevance for our families. |
The ADNP Kids Research Foundation is funding science to understand the biology of ADNP and identify innovative therapeutic strategies and a cure for all individuals around the world with ADNP syndrome.
- NOTE: We are a 100% volunteer-ran patient organization, we do not pay university overhead fees as part of our grants or sponsorships. If you are interested in discussing a grant opportunity please email [email protected].
Roadman to a Cure
The ADNP Kids Research Foundation's Roadmap is focused on elements supporting therapeutic approaches that have the potential to treat and cure the effects of the disorder in children, teens and adults.
Gene Therapy / Gene Replacement Approaches
ADNP Kids Research Foundation is funding research in gene/protein replacement and gene therapy approaches that are focused on increasing ADNP expression.
Gene/protein replacement therapy delivers healthy copies of the ADNP gene or protein to compensate for the haploinsufficiency of the mutated or deleted ADNP gene. Treatment is delivered via a viral vector called Adeno-Associated Virus (AAV) technology.
Gene therapies and antisense oligonucleotide therapies (ASOs) are Antisense oligonucleotide therapies and epigenetic gene editing are therapeutic platforms that we are also exploring.
The ADNP Kids Research Foundation has created a gene therapy program that will evaluate multiple gene therapies simultaneously through 2024.
Downstream or Symptomatic Therapy Approaches
Downstream therapy includes drugs that treat the symptoms of ADNP syndrome like sleep, behaviors, seizures, etc. There are many drugs that are already approved by the FDA that might be useful for treating ADNP syndrome, but are not labelled for ADNP syndrome. Finding these drugs and showing that they can be repurposed can help to bring new treatments to ADNP syndrome. We are currently using high throughput screening platforms and drug investigation programs to find already existing and new small molecules that may be therapeutic for ADNP syndrome.
Therapeutics being targeted often improve function of ADNP symptoms and therefor quality of life. Different strategies are being pursued including repurposed drugs as well as novel compounds or peptides.
Supporting Assets
As we prepare for clinical trials, there are many important things that must be supported.
Creating animal models and cell lines is important to ensure that we know how drugs can behave and improve symptoms. ADNP Kids Research Foundation has funded the creation of mouse models, including behavioral characterization by the best in world in this field.
ADNP Kids Research Foundation has also created a Global Patient Registry and Global Contact Registry, and will begin the ADNP Natural History studies soon, to collect key data from those living with ADNP syndrome to understand the impact ADNP has on things like communication, sleep, autism/behavior, gross/fine motor skills and seizures. This data is used to inform research and trails so that we can ensure meaningful change can be measured with effective therapeutics.
The ADNP Kids Research Foundation's Roadmap is focused on elements supporting therapeutic approaches that have the potential to treat and cure the effects of the disorder in children, teens and adults.
Gene Therapy / Gene Replacement Approaches
ADNP Kids Research Foundation is funding research in gene/protein replacement and gene therapy approaches that are focused on increasing ADNP expression.
Gene/protein replacement therapy delivers healthy copies of the ADNP gene or protein to compensate for the haploinsufficiency of the mutated or deleted ADNP gene. Treatment is delivered via a viral vector called Adeno-Associated Virus (AAV) technology.
Gene therapies and antisense oligonucleotide therapies (ASOs) are Antisense oligonucleotide therapies and epigenetic gene editing are therapeutic platforms that we are also exploring.
The ADNP Kids Research Foundation has created a gene therapy program that will evaluate multiple gene therapies simultaneously through 2024.
Downstream or Symptomatic Therapy Approaches
Downstream therapy includes drugs that treat the symptoms of ADNP syndrome like sleep, behaviors, seizures, etc. There are many drugs that are already approved by the FDA that might be useful for treating ADNP syndrome, but are not labelled for ADNP syndrome. Finding these drugs and showing that they can be repurposed can help to bring new treatments to ADNP syndrome. We are currently using high throughput screening platforms and drug investigation programs to find already existing and new small molecules that may be therapeutic for ADNP syndrome.
Therapeutics being targeted often improve function of ADNP symptoms and therefor quality of life. Different strategies are being pursued including repurposed drugs as well as novel compounds or peptides.
Supporting Assets
As we prepare for clinical trials, there are many important things that must be supported.
Creating animal models and cell lines is important to ensure that we know how drugs can behave and improve symptoms. ADNP Kids Research Foundation has funded the creation of mouse models, including behavioral characterization by the best in world in this field.
ADNP Kids Research Foundation has also created a Global Patient Registry and Global Contact Registry, and will begin the ADNP Natural History studies soon, to collect key data from those living with ADNP syndrome to understand the impact ADNP has on things like communication, sleep, autism/behavior, gross/fine motor skills and seizures. This data is used to inform research and trails so that we can ensure meaningful change can be measured with effective therapeutics.
OUR RESEARCH DATA
Data from the ADNP Kids Research Foundation Contact and Patient Registries show the following mutations. There are approximatly 200 more patients who have gone through our group site but have not registered, totalling an estimated 475 patients.
Data from the ADNP Kids Research Foundation Contact and Patient Registries show the following mutations. There are approximatly 200 more patients who have gone through our group site but have not registered, totalling an estimated 475 patients.
x p.K274NfsX311
20q13.13q12.2DELETION…...TOTAL…...(14)
c.1A>Gp.Met1…...TOTAL…...(1)
c.2T>Cp.? Q87.8…...TOTAL…...(1)
c.68T>Cp.(Leu23Pro)…...TOTAL…...(2)
c.14delCp.Pro5Leufs*8…...TOTAL…...(1)
c.56_57delTGp.V19EfsX5…...TOTAL…...(10)
c.64dupAlle22AsnfsTer3…...TOTAL…...(1)
c.79G>Ap.G27R…...TOTAL…...(1)
c.82_85delTTGGp.L28NfsX7…...TOTAL…...(1)
c.104_105del(I35Rfs*4)…...TOTAL…...(1)
c.106_107dup Asp37fs …...TOTAL…...(2)
c.118C>Tp.Q40X…...TOTAL…...(1)
c.138_139delp.Phe46Leufs*52…...TOTAL…...(1)
c.165delTp.Asp55fs…...TOTAL…...(1)
c.182dupC…...TOTAL…...(1)
c.201G>Cp.Q67H…...TOTAL…...(1)
c.202-5_202-del…...TOTAL…...(1)
c.216p.Arg216Ter…...TOTAL…...(1)
c.222dupTp.Phe742LeufsTer2…...TOTAL…...(1)
c.252delAp.Lys84AsnfsX77…...TOTAL…...(1)
c.284A>Gp.Asn95Ser…...TOTAL…...(1)
c.319delCp.Leu107fs…...TOTAL…...(1)
c.361_362 delL121 fs…...TOTAL…...(1)
c.362T>ALeu121…...TOTAL…...(1)
c.372_373delp.lle125*…...TOTAL…...(2)
c.399delCp.Ser134ala*27…...TOTAL…...(1)
c.405dupp.Pro136Thrfs*3…...TOTAL…...(1)
c.424dupp.Thr142Asnfs*5…...TOTAL…...(1)
c.454_466del13P.Leu152ArgfsX5…...TOTAL…...(1)
c.484C>Tp.Q162X…...TOTAL…...(1)
c.516>Ap.Tyr172*…...TOTAL…...(1)
c.517C>Tp.R173X…...TOTAL…...(1)
c.529T>Cp.Y177H…...TOTAL…...(1)
c.532dupp.Glu178Glyfs*4…...TOTAL…...(1)
c.539_542deITTAGp.(Val180Glyfs*17)…...TOTAL…...(1)
c.568C>Tp.Gln190Ter…...TOTAL…...(2)
c.593_542delP.Val180Glyfs*17…...TOTAL…...(1)
c.607A>Gp.K203E…...TOTAL…...(1)
c.609dupSer204llefs*17…...TOTAL…...(2)
c.613_616delL205Mfs*6…...TOTAL…...(3)
c.622dupp.Ala208Glyfs*13…...TOTAL…...(1)
c.673C>Tp.(Arg225Ter)…...TOTAL…...(2)
c.790C>Tp.Arg264*…...TOTAL…...(3)
c.819_820inTp.K274X…...TOTAL…...(1)
c.838_839delAGp.Ser280Hisfs*33…...TOTAL…...(1)
c.853_857delCCAAGp.Pro285AspfsX27…...TOTAL…...(1)
c.916C>Tp.Arg306Ter…...TOTAL…...(2)
c.922_923delp. S308Nfs*5…...TOTAL…...(1)
c.940_941delTTp.L314KfsX84…...TOTAL…...(1)
c.1035_1038delGTCAp.S346X…...TOTAL…...(2)
c.1046_1047delTGL349RfsX49…...TOTAL…...(1)
c.1102C>Tp.Gln368Ter…...TOTAL…...(2)
c.1106_1108delTACinsCTGTp.L369SfsXS30…...TOTAL…...(1)
c.1117G>T (Gly373*)20q13…...TOTAL…...(1)
c.1150C>Tp.(Gln384*)…...TOTAL…...(1)
c.1207_1208delTCp.Ser403IlefsX36…...TOTAL…...(1)
c.1211C>Ap.Ser404*…...TOTAL…...(2)
c.1222_1223delp.Lys408Valfs*31…...TOTAL…...(2)
c.1240_1241delp.Gln414ValfsTer25…...TOTAL…...(2)
c.1313delGp.G438VfsX40…...TOTAL…...(1)
c.1328_1332delTTAAp.Thr443Lysfs*9…...TOTAL…...(1)
c.1337G>ATrp446*…...TOTAL…...(1)
c.1365_*33delp.456Phe_1102Ala Del/Dup…...TOTAL…...(1)
c.1490A>GTyr497Cys…...TOTAL…...(1)
c.1534_1535dupCTp.Ser513CysfsTer37…...TOTAL…...(1)
c.1562_1571del10p.F521WfsX25…...TOTAL…...(1)
c.1633_1643p.Asp545Phefs*6…...TOTAL…...(1)
c.1707C>Ap.Tyr569Ter…...TOTAL…...(2)
c.1792C>Tp.Q598X…...TOTAL…...(1)
C.1807_1808dupP.pro604serfster3…...TOTAL…...(1)
c.1855G>Tp.V619F…...TOTAL…...(2)
c.1876_1892del17p.L626KfsX6…...TOTAL…...(1)
c.190dupAp.T64NfsX35…...TOTAL…...(2)
c.1922A>Gp.His641Arg…...TOTAL…...(1)
c.1929dupp.(R644Tfs*14)…...TOTAL…...(1)
c.2000G>Ap.C667Y…...TOTAL…...(1)
c.2130delAinsCA / c.2129dupCp.Ser711LysfsTer24…...TOTAL…...(1)
c.2156_2157insAp.Tyr719*…...TOTAL…...(2)
c.2156dupp.Tyr719*…...TOTAL…...(8)
c.2156dupAp.Tyr719*…...TOTAL…...(8)
c.2157C>Ap.Tyr719*…...TOTAL…...(7)
c.2157C>Gp.Tyr719*…...TOTAL…...(32)
c.2157C>Tp. Tyr719*…...TOTAL…...(1)
c.2157delCp.Tyr719*…...TOTAL…...(1)
c.2158G>TGlu720Ter…...TOTAL…...(1)
c.2161C>Tp.Gin721*…...TOTAL…...(1)
c.2167delGp.(Glu723Asnfs*5)…...TOTAL…...(1)
c.2175delCp.Leu726TyrfsX2…...TOTAL…...(1)
c.2184_2188delArg730fs…...TOTAL…...(1)
c.2187dupAp.R730TfsX5…...TOTAL…...(2)
c.2188C>Tp.Arg730*…...TOTAL…...(22)
c.2189delGp.Arg730G1nfs*2…...TOTAL…...(1)
c.2194_2197delTTAGp.L732MfsX20…...TOTAL…...(3)
c.2195T>Gp.Leu732* …...TOTAL…...(1)
c.2212dupTp.Ser738Phefs*6…...TOTAL…...(1)
c.2213C>Ap.S738X…...TOTAL…...(8)
c.2229delp.Glu744argfs*9…...TOTAL…...(1)
c.2230G>Tp.E744X…...TOTAL…...(2)
C.2239G>TP.e747x…...TOTAL…...(1)
c.2250_2274delp.V751fs…...TOTAL…...(1)
c.2251delGinsTAAAp.Val751*…...TOTAL…...(1)
c.2268dupCp.K757QfsX4…...TOTAL…...(1)
c.2287delTp.Ser763ProfsX9…...TOTAL…...(3)
c.2318delp.Lys773SerfsTer17…...TOTAL…...(1)
c.2340T>GP.Tyr780*…...TOTAL…...(1)
c.2355_2356delAAp.Glu785AspfsTer2…...TOTAL…...(1)
c.2419_2423delAAAAGp.Lys807Glufs*6…...TOTAL…...(2)
c.2424_2427delGAAG / TCTTC>Tp. Lys809Serfs*19…...TOTAL…...(1)
c.2491 2494 del TTAAp.(Leu831fsTer81)…...TOTAL…...(7)
c.2495_2499delp.Asn832Lyfsf*81…...TOTAL…...(1)
c.2496_2499delp.Asn832LysfsTer81…...TOTAL…...(17)
c.2630_2633delACAGp.Asp877VaifsX36…...TOTAL…...(1)
c.2707_2710delTTAALeu903IlefsTer82…...TOTAL…...(1)
c.2865_2868delP.(S955Rfs*36)…...TOTAL…...(1)
c.2866_2868delp.Ser955Argfs*36…...TOTAL…...(1)
c.2971_2979delp.MET991_Pro993del…...TOTAL…...(2)
c.3071_3072delGlu1024Alafs*7…...TOTAL…...(1)
c.3077_3078insATTTP.(lys1027phefs*6)…...TOTAL…...(1)
c.3248dupGp.V1084AfsX3…...TOTAL…...(1)
c.3293G>Ap.Ser1098Asn …...TOTAL…...(1)
chr20:50.892.214 - 50.892.218p.Asn832Lysfs*81 ENST00000349014…...TOTAL…...(1)
Chr20:50.892.382 G>Ap.Gen778*ENST00000349014…...TOTAL…...(1)
T2322GY774X…...TOTAL…...(1)
20q13.13q12.2DELETION…...TOTAL…...(14)
c.1A>Gp.Met1…...TOTAL…...(1)
c.2T>Cp.? Q87.8…...TOTAL…...(1)
c.68T>Cp.(Leu23Pro)…...TOTAL…...(2)
c.14delCp.Pro5Leufs*8…...TOTAL…...(1)
c.56_57delTGp.V19EfsX5…...TOTAL…...(10)
c.64dupAlle22AsnfsTer3…...TOTAL…...(1)
c.79G>Ap.G27R…...TOTAL…...(1)
c.82_85delTTGGp.L28NfsX7…...TOTAL…...(1)
c.104_105del(I35Rfs*4)…...TOTAL…...(1)
c.106_107dup Asp37fs …...TOTAL…...(2)
c.118C>Tp.Q40X…...TOTAL…...(1)
c.138_139delp.Phe46Leufs*52…...TOTAL…...(1)
c.165delTp.Asp55fs…...TOTAL…...(1)
c.182dupC…...TOTAL…...(1)
c.201G>Cp.Q67H…...TOTAL…...(1)
c.202-5_202-del…...TOTAL…...(1)
c.216p.Arg216Ter…...TOTAL…...(1)
c.222dupTp.Phe742LeufsTer2…...TOTAL…...(1)
c.252delAp.Lys84AsnfsX77…...TOTAL…...(1)
c.284A>Gp.Asn95Ser…...TOTAL…...(1)
c.319delCp.Leu107fs…...TOTAL…...(1)
c.361_362 delL121 fs…...TOTAL…...(1)
c.362T>ALeu121…...TOTAL…...(1)
c.372_373delp.lle125*…...TOTAL…...(2)
c.399delCp.Ser134ala*27…...TOTAL…...(1)
c.405dupp.Pro136Thrfs*3…...TOTAL…...(1)
c.424dupp.Thr142Asnfs*5…...TOTAL…...(1)
c.454_466del13P.Leu152ArgfsX5…...TOTAL…...(1)
c.484C>Tp.Q162X…...TOTAL…...(1)
c.516>Ap.Tyr172*…...TOTAL…...(1)
c.517C>Tp.R173X…...TOTAL…...(1)
c.529T>Cp.Y177H…...TOTAL…...(1)
c.532dupp.Glu178Glyfs*4…...TOTAL…...(1)
c.539_542deITTAGp.(Val180Glyfs*17)…...TOTAL…...(1)
c.568C>Tp.Gln190Ter…...TOTAL…...(2)
c.593_542delP.Val180Glyfs*17…...TOTAL…...(1)
c.607A>Gp.K203E…...TOTAL…...(1)
c.609dupSer204llefs*17…...TOTAL…...(2)
c.613_616delL205Mfs*6…...TOTAL…...(3)
c.622dupp.Ala208Glyfs*13…...TOTAL…...(1)
c.673C>Tp.(Arg225Ter)…...TOTAL…...(2)
c.790C>Tp.Arg264*…...TOTAL…...(3)
c.819_820inTp.K274X…...TOTAL…...(1)
c.838_839delAGp.Ser280Hisfs*33…...TOTAL…...(1)
c.853_857delCCAAGp.Pro285AspfsX27…...TOTAL…...(1)
c.916C>Tp.Arg306Ter…...TOTAL…...(2)
c.922_923delp. S308Nfs*5…...TOTAL…...(1)
c.940_941delTTp.L314KfsX84…...TOTAL…...(1)
c.1035_1038delGTCAp.S346X…...TOTAL…...(2)
c.1046_1047delTGL349RfsX49…...TOTAL…...(1)
c.1102C>Tp.Gln368Ter…...TOTAL…...(2)
c.1106_1108delTACinsCTGTp.L369SfsXS30…...TOTAL…...(1)
c.1117G>T (Gly373*)20q13…...TOTAL…...(1)
c.1150C>Tp.(Gln384*)…...TOTAL…...(1)
c.1207_1208delTCp.Ser403IlefsX36…...TOTAL…...(1)
c.1211C>Ap.Ser404*…...TOTAL…...(2)
c.1222_1223delp.Lys408Valfs*31…...TOTAL…...(2)
c.1240_1241delp.Gln414ValfsTer25…...TOTAL…...(2)
c.1313delGp.G438VfsX40…...TOTAL…...(1)
c.1328_1332delTTAAp.Thr443Lysfs*9…...TOTAL…...(1)
c.1337G>ATrp446*…...TOTAL…...(1)
c.1365_*33delp.456Phe_1102Ala Del/Dup…...TOTAL…...(1)
c.1490A>GTyr497Cys…...TOTAL…...(1)
c.1534_1535dupCTp.Ser513CysfsTer37…...TOTAL…...(1)
c.1562_1571del10p.F521WfsX25…...TOTAL…...(1)
c.1633_1643p.Asp545Phefs*6…...TOTAL…...(1)
c.1707C>Ap.Tyr569Ter…...TOTAL…...(2)
c.1792C>Tp.Q598X…...TOTAL…...(1)
C.1807_1808dupP.pro604serfster3…...TOTAL…...(1)
c.1855G>Tp.V619F…...TOTAL…...(2)
c.1876_1892del17p.L626KfsX6…...TOTAL…...(1)
c.190dupAp.T64NfsX35…...TOTAL…...(2)
c.1922A>Gp.His641Arg…...TOTAL…...(1)
c.1929dupp.(R644Tfs*14)…...TOTAL…...(1)
c.2000G>Ap.C667Y…...TOTAL…...(1)
c.2130delAinsCA / c.2129dupCp.Ser711LysfsTer24…...TOTAL…...(1)
c.2156_2157insAp.Tyr719*…...TOTAL…...(2)
c.2156dupp.Tyr719*…...TOTAL…...(8)
c.2156dupAp.Tyr719*…...TOTAL…...(8)
c.2157C>Ap.Tyr719*…...TOTAL…...(7)
c.2157C>Gp.Tyr719*…...TOTAL…...(32)
c.2157C>Tp. Tyr719*…...TOTAL…...(1)
c.2157delCp.Tyr719*…...TOTAL…...(1)
c.2158G>TGlu720Ter…...TOTAL…...(1)
c.2161C>Tp.Gin721*…...TOTAL…...(1)
c.2167delGp.(Glu723Asnfs*5)…...TOTAL…...(1)
c.2175delCp.Leu726TyrfsX2…...TOTAL…...(1)
c.2184_2188delArg730fs…...TOTAL…...(1)
c.2187dupAp.R730TfsX5…...TOTAL…...(2)
c.2188C>Tp.Arg730*…...TOTAL…...(22)
c.2189delGp.Arg730G1nfs*2…...TOTAL…...(1)
c.2194_2197delTTAGp.L732MfsX20…...TOTAL…...(3)
c.2195T>Gp.Leu732* …...TOTAL…...(1)
c.2212dupTp.Ser738Phefs*6…...TOTAL…...(1)
c.2213C>Ap.S738X…...TOTAL…...(8)
c.2229delp.Glu744argfs*9…...TOTAL…...(1)
c.2230G>Tp.E744X…...TOTAL…...(2)
C.2239G>TP.e747x…...TOTAL…...(1)
c.2250_2274delp.V751fs…...TOTAL…...(1)
c.2251delGinsTAAAp.Val751*…...TOTAL…...(1)
c.2268dupCp.K757QfsX4…...TOTAL…...(1)
c.2287delTp.Ser763ProfsX9…...TOTAL…...(3)
c.2318delp.Lys773SerfsTer17…...TOTAL…...(1)
c.2340T>GP.Tyr780*…...TOTAL…...(1)
c.2355_2356delAAp.Glu785AspfsTer2…...TOTAL…...(1)
c.2419_2423delAAAAGp.Lys807Glufs*6…...TOTAL…...(2)
c.2424_2427delGAAG / TCTTC>Tp. Lys809Serfs*19…...TOTAL…...(1)
c.2491 2494 del TTAAp.(Leu831fsTer81)…...TOTAL…...(7)
c.2495_2499delp.Asn832Lyfsf*81…...TOTAL…...(1)
c.2496_2499delp.Asn832LysfsTer81…...TOTAL…...(17)
c.2630_2633delACAGp.Asp877VaifsX36…...TOTAL…...(1)
c.2707_2710delTTAALeu903IlefsTer82…...TOTAL…...(1)
c.2865_2868delP.(S955Rfs*36)…...TOTAL…...(1)
c.2866_2868delp.Ser955Argfs*36…...TOTAL…...(1)
c.2971_2979delp.MET991_Pro993del…...TOTAL…...(2)
c.3071_3072delGlu1024Alafs*7…...TOTAL…...(1)
c.3077_3078insATTTP.(lys1027phefs*6)…...TOTAL…...(1)
c.3248dupGp.V1084AfsX3…...TOTAL…...(1)
c.3293G>Ap.Ser1098Asn …...TOTAL…...(1)
chr20:50.892.214 - 50.892.218p.Asn832Lysfs*81 ENST00000349014…...TOTAL…...(1)
Chr20:50.892.382 G>Ap.Gen778*ENST00000349014…...TOTAL…...(1)
T2322GY774X…...TOTAL…...(1)
