WELCOME! You have FINALLY found us! Some of us have waited years for a diagnosis, a reason, a genetic cause that describes the condition that has affected our children. A name of the condition that has crippled the body's and silenced the voices of many of our children.
You have found the ADNP Kids Research Foundation, created by a family after the diagnosis of their son Tony in 2014. You are no longer alone. Our children are no longer alone. They have other children waiting to meet them that are just like them. We will be each other's best teachers and best listeners.
The ADNP Kids Research Foundation has been created to build our very rare ADNP community, to support families and fund research to help the world understand ADNP Syndrome and to find treatments for our children.
We welcome your stories and suggestions to create the kind of support community that will service a wide range of families througout the world.
Please sign up for the Contact Registry so that your child can be counted as a diagnosed individual. It is important for us to be able to know how many patients are out there and where they live. As we build our international research network, we can use the registry to inform you of research studies and clinical trials in your area.
Welcome to our ADNP family!
YOU FINALLY HAVE A DIAGNOSIS! HERE ARE STEPS TO TAKE NOW.
We know this is a difficult time, and you may question where to begin. As you are navigating this new diagnosis, here are some steps you can take to get informed, connected, and make an impact today!
We know this is a difficult time, and you may question where to begin. As you are navigating this new diagnosis, here are some steps you can take to get informed, connected, and make an impact today!
- Stay up to date on the latest ADNP Syndrome news by joining our Contact Registry. You will need to know your genetic diagnosis in order to complete the registration. Here is a video on how to read your genetic report. If you have difficulty, we can help you.
- Connect with other ADNP Syndrome families by joining the private parent Facebook support page noted above.
- Help researchers & our community better understand ADNP Syndrome by registering for our SHARE because you CARE Patient Registry for the ADNP Syndrome long term natural history study. (the registry is still under construction and will be posted when complete)
- Help raise awareness, follow us on Facebook & Instagram
- Join the ADNP International Parent Support Facebook page.
Sign up for our Contact Registry
Registering with ADNP Kids Research Foundation will help to keep you up-to-date on the latest information regarding ADNP Syndrome.
Contact Registrants will be informed about opportunities to participate in research with our international research partners around the world. You will also receive family meeting announcements, special mailings, and information regarding discoveries about ADNP Syndrome that could impact care decisions.
Registering with ADNP Kids Research Foundation will help to keep you up-to-date on the latest information regarding ADNP Syndrome.
Contact Registrants will be informed about opportunities to participate in research with our international research partners around the world. You will also receive family meeting announcements, special mailings, and information regarding discoveries about ADNP Syndrome that could impact care decisions.
WHAT IS ADNP SYNDROME
ADNP Syndrome is a rare genetic disorder first identified in February of 2014 It is a caused by a mutation, change or deletion of a master brain gene called Activity Dependent Neuroprotective Protein. Everyone with ADNP has some degree of neurodevelopmental delay, differences in brain function and autism. In a recent study, the ADNP gene was recognized as a top single gene cause of autism and neurological developmental disorders.
HOW MAY PATIENTS ARE DIAGNOSED WITH ADNP SYNDROME?
There are just under 300 patients worldwide that we believe have been diagnosed with ADNP Syndrome so far. The numbers expected to greatly increase as it's prevalence expected to increase.
The current prevalence is projected to 1 in 15,000-20,000.
There are just under 300 patients worldwide that we believe have been diagnosed with ADNP Syndrome so far. The numbers expected to greatly increase as it's prevalence expected to increase.
The current prevalence is projected to 1 in 15,000-20,000.
DOES IT MATTER WHAT TYPE OF MUTATION YOU HAVE?
There are many types of mutations found in ADNP. We have two particular mutations, c.2157 and c.2188, that has a very large cohort of patients with the same mutation. We have nonsense and missence mutations, as well as whole or partial gene deletions.
It has recently been discovered that ADNP is one of the only known genes to have 2 DNA methylation types. The different methylation types surprising does not show a difference in disease phenotype.
There are many types of mutations found in ADNP. We have two particular mutations, c.2157 and c.2188, that has a very large cohort of patients with the same mutation. We have nonsense and missence mutations, as well as whole or partial gene deletions.
It has recently been discovered that ADNP is one of the only known genes to have 2 DNA methylation types. The different methylation types surprising does not show a difference in disease phenotype.
IS ADNP SYNDROME INHERITED?
Almost all ADNP mutations have been found to be de novo, meaning new in the individual and are not present in either parent.
However, there is a small growing group of hereditary cases recently being identified, so if your child has been diagnosed, it is important to speak to your genetic physician if the parents have not been tested,
Almost all ADNP mutations have been found to be de novo, meaning new in the individual and are not present in either parent.
However, there is a small growing group of hereditary cases recently being identified, so if your child has been diagnosed, it is important to speak to your genetic physician if the parents have not been tested,
IS THERE ANY GENDER BIAS?
ADNP Syndrome affects both makes and females
ADNP Syndrome affects both makes and females
IS THERE CURRENTLY A CURE OR TREATMENT FOR ADNP SYNDROME?
There is currently no cure or FDA approved treatment for ADNP SYndrome.
TREATMENT:
There is a Low Dose Ketamine for ADNP Syndrome FDA phase 2 drug trial currently taking place, funded by the ADNP Kids Research Foundation.
There was movement with a peptide of a treatment possibility that received Orphan Drug Designation 2 years ago, but that drug trial has stalled. We are currently working with our research network to move this study forward.
There is currently no cure or FDA approved treatment for ADNP SYndrome.
TREATMENT:
There is a Low Dose Ketamine for ADNP Syndrome FDA phase 2 drug trial currently taking place, funded by the ADNP Kids Research Foundation.
There was movement with a peptide of a treatment possibility that received Orphan Drug Designation 2 years ago, but that drug trial has stalled. We are currently working with our research network to move this study forward.
HOW CAN I LEARN ABOUT FUTURE STUDIES?
You can join our Contact Registry if you are a patient or caregiver of a patient with ADNP Syndrome, and we can let you know what a future study is looking for participants, including international studies.
You can join our Contact Registry if you are a patient or caregiver of a patient with ADNP Syndrome, and we can let you know what a future study is looking for participants, including international studies.