WELCOME! You have FINALLY found us!
Some of us have waited years, some only a short time, for a diagnosis; a reason, a genetic cause that describes the condition that has affected our children.
You have found the ADNP Kids Research Foundation, created in 2016 by Sandra Sermone, mom to Tony, one of the first children to be diagnosed in the world with ADNP Syndrome.
You are no longer alone. Our children are no longer alone. You have found other parents and children waiting to meet you, who have children with ADNP syndrome. We will be each other's best teachers and best listeners and we will move mountains helping our children through the ADNP Kids Research Foundation.
The ADNP Kids Research Foundation has been created to support families and accelerate 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 throughout the world.
Please sign up for the ADNP SYNDROME 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 ran Facebook support page noted below (#5)
- 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.
There is currently no cure or FDA approved treatment for ADNP Syndrome.
- However, the ADNP Kids Research Foundation launched the first every treatment drug trial in 2020 for ADNP. That 2020 FDA drug trial is a phase 1/2 study, funded entirely by the ADNP Kids Research Foundation families, is to test safety and efficacy of Low Dose Ketamine for ADNP Syndrome.
- Additionally, there was movement years ago with a possible peptide treatment that the foundation was supporting, all the way through pre-IND and receiving Orphan Drug Designation in 2018. However, that trial has not moved forward and in 2020 the foundation was informed that the company folded and we are currently working with our research network, the NIH and pharma to attempt to move this study forward if it shows to be a viable drug in independent studies.
THERAPY OPTIONS CURRENTLY AVAILABLE:
- Intense therapy can help ADNP patients improve their skills and reach milestones. Families are encouraged to seek out professionals who have a large amount of experience working with children with complex global neurodevelopmental disorders and autism.
- The most common therapies available are Physical Therapy, Occupational Therapy, Speech Therapy, Developmental Therapy and Applied Behavior Analysis (ABA) Therapy.
- ADNP patients respond well to alternative therapies including PROMPT therapy, hippotherapy, aqua therapy, music therapy, etc.
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.
