JAN 2021 - NEWS RELEASE
RARE DISEASE ORGANIZATIONS COLLABORATING TO ACCELERATE SCIENTIFIC DISCOVERY EVALUATION TOOL FOR AUTISM AND RELATED DISORDERS.
NET STUDY:
The start of 2021 is beginning with HOPE and a strong belief that we can move mountains when fighting against a rare disease like ADNP Syndrome when we collaborate and work with others to accelerate scientific discoveries.
We are pleased to announce that the ADNP Kids Research Foundation has awarded a partial grant to Dr. Fraizer, Professor of Psychology at John Carroll University and Chief Science Officer of Autism Speaks, in collaboration with with Malan Syndrome Foundation, PTEN Hamartoma Tumor Syndrome Foundation and SYNGAP Research Fund, for a collaborative study led by Dr. Fraizer, for the development and validation of a Neurobehavioral Evaluation Tool (NET) for autism and related genetic disorders.
This study will include ADNP patients and their caregivers in the development and application of NET and aims to develop and validate a neurobehavioral assessment tool that can be used for clinical trials.
ADNP Syndrome is a rare neurodevelopmental and autism genetic disorder caused by a mutation or partial deletion in the ADNP (activity dependent neuroprotective protein) gene. This master brain gene regulates over 400 other genes and is highly expressed. It affects brain formation, connectivity and development, as well as brain function. Studies have identified ADNP as a regulator of axonal transport and dendritic spine plasticity. It is one of the top single gene causes of autism spectrum disorder (ASD) and is the only known protein significantly decreasing in the serum of Alzheimer’s disease (AD)
Hallmark features are neurological/intellectual disability, global motor planning and developmental delays, apraxia/speech delays, autism, sleep issues, feeding disorders, hypotonia, sensory processing disorder, seizures, congenital brain and heart abnormalities, vision impairment and children have a very happy demeanor.
Dr. Frazier's NET study seeks to address the lack of tools specifically catered to collecting information from patients with neurodevelopmental genetic syndromes such as ADNP Syndrome, because many existing data collection tools are performed in clinics, often requiring difficult long-distance travel and long doctor visits, which are very difficult for patients with syndromes such as ADNP.
The new tool NET, will be designed with clinician, patient and caregivers, grouped from each rare disorder, and will be more accurate, repeatable and sensitive to change than what is currently available.
In an interview on PR Newswire, Dr. Frazier said, “To develop better interventions and supports, we need measures that accurately capture important behaviors and the challenges patients experience. I am excited about the measures we are developing because they will be designed to sensitively track improvements by collecting data from the caregiver and the patient to provide a comprehensive assessment”.
The work is primary funded by PTEN Research, a medical research charity, and Autism Speaks. Additionally, the study has expanded to collaborate with ADNP Kids Research Foundation, Malan Syndrome Foundation and SYNGAP Research Fund to ensure our patients with these rare diseases benefit from Dr. Frazier’s research.
“Supporting Dr. Fraizer to develop a validated scale for clinical trials, soon, is exactly the kind of grant parent-led groups should make”, said Michael Graglia, Director of SRF.
Sandra Sermone, President of ADNP Kids Research Foundation says, “When Dr. Fraizer invited ADNP Syndrome to join this study I was thrilled. We understand how important a tool like NET could be, especially in this particular moment in time, as we have begun the first FDA drug trial for ADNP Syndrome in the middle of a pandemic, and we understand the difficulties of bringing in children from around the country, to one facility, to validate outcome measures with these types of evaluations. Having a tool like NET could open up the radius of who can participate in clinical trials and studies to families around the world, and would allow patients who can’t travel, to be included. This is key for better enrollment and best outcomes in studies and trials. In addition, it makes it easier on the patient, which is what all pediatric rare disease groups desperately need”.
"I would personally like to thank Dr. Fraizer, Autism Speaks and the PTEN Foundation for spearheading this project, and including ADNP Syndrome. We are very excited to work with these other very dedicated parent led rare disease organizations and hope that collaborative studies like this continue with more rare disease organizations. We should support, share and help each other and by doing so we can do great things, I truly believe that we can", Sandra Sermone. #cureADNP
Enrollment will be announced soon and will come in two phases.
If you are a caregiver to a child with ADNP Syndrome, please sign up on our Contract Registry to be notified when enrollment begins.
Contact for more information: [email protected]
Related Links:
PTEN FOUNDATION
MALAN FOUNDATION
SYNGAP RESEARCH FUND
https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html?eType=EmailBlastContent&eId=f811ee18-ffdd-4378-9139-f34a9a6cbfd4&fbclid=IwAR1SFMS3CsWr9DXdY0BsR6tcMdWjBBdYiZ078dnThlpWh5n9Kf95lJGFcr8
RARE DISEASE ORGANIZATIONS COLLABORATING TO ACCELERATE SCIENTIFIC DISCOVERY EVALUATION TOOL FOR AUTISM AND RELATED DISORDERS.
NET STUDY:
The start of 2021 is beginning with HOPE and a strong belief that we can move mountains when fighting against a rare disease like ADNP Syndrome when we collaborate and work with others to accelerate scientific discoveries.
We are pleased to announce that the ADNP Kids Research Foundation has awarded a partial grant to Dr. Fraizer, Professor of Psychology at John Carroll University and Chief Science Officer of Autism Speaks, in collaboration with with Malan Syndrome Foundation, PTEN Hamartoma Tumor Syndrome Foundation and SYNGAP Research Fund, for a collaborative study led by Dr. Fraizer, for the development and validation of a Neurobehavioral Evaluation Tool (NET) for autism and related genetic disorders.
This study will include ADNP patients and their caregivers in the development and application of NET and aims to develop and validate a neurobehavioral assessment tool that can be used for clinical trials.
ADNP Syndrome is a rare neurodevelopmental and autism genetic disorder caused by a mutation or partial deletion in the ADNP (activity dependent neuroprotective protein) gene. This master brain gene regulates over 400 other genes and is highly expressed. It affects brain formation, connectivity and development, as well as brain function. Studies have identified ADNP as a regulator of axonal transport and dendritic spine plasticity. It is one of the top single gene causes of autism spectrum disorder (ASD) and is the only known protein significantly decreasing in the serum of Alzheimer’s disease (AD)
Hallmark features are neurological/intellectual disability, global motor planning and developmental delays, apraxia/speech delays, autism, sleep issues, feeding disorders, hypotonia, sensory processing disorder, seizures, congenital brain and heart abnormalities, vision impairment and children have a very happy demeanor.
Dr. Frazier's NET study seeks to address the lack of tools specifically catered to collecting information from patients with neurodevelopmental genetic syndromes such as ADNP Syndrome, because many existing data collection tools are performed in clinics, often requiring difficult long-distance travel and long doctor visits, which are very difficult for patients with syndromes such as ADNP.
The new tool NET, will be designed with clinician, patient and caregivers, grouped from each rare disorder, and will be more accurate, repeatable and sensitive to change than what is currently available.
In an interview on PR Newswire, Dr. Frazier said, “To develop better interventions and supports, we need measures that accurately capture important behaviors and the challenges patients experience. I am excited about the measures we are developing because they will be designed to sensitively track improvements by collecting data from the caregiver and the patient to provide a comprehensive assessment”.
The work is primary funded by PTEN Research, a medical research charity, and Autism Speaks. Additionally, the study has expanded to collaborate with ADNP Kids Research Foundation, Malan Syndrome Foundation and SYNGAP Research Fund to ensure our patients with these rare diseases benefit from Dr. Frazier’s research.
“Supporting Dr. Fraizer to develop a validated scale for clinical trials, soon, is exactly the kind of grant parent-led groups should make”, said Michael Graglia, Director of SRF.
Sandra Sermone, President of ADNP Kids Research Foundation says, “When Dr. Fraizer invited ADNP Syndrome to join this study I was thrilled. We understand how important a tool like NET could be, especially in this particular moment in time, as we have begun the first FDA drug trial for ADNP Syndrome in the middle of a pandemic, and we understand the difficulties of bringing in children from around the country, to one facility, to validate outcome measures with these types of evaluations. Having a tool like NET could open up the radius of who can participate in clinical trials and studies to families around the world, and would allow patients who can’t travel, to be included. This is key for better enrollment and best outcomes in studies and trials. In addition, it makes it easier on the patient, which is what all pediatric rare disease groups desperately need”.
"I would personally like to thank Dr. Fraizer, Autism Speaks and the PTEN Foundation for spearheading this project, and including ADNP Syndrome. We are very excited to work with these other very dedicated parent led rare disease organizations and hope that collaborative studies like this continue with more rare disease organizations. We should support, share and help each other and by doing so we can do great things, I truly believe that we can", Sandra Sermone. #cureADNP
Enrollment will be announced soon and will come in two phases.
If you are a caregiver to a child with ADNP Syndrome, please sign up on our Contract Registry to be notified when enrollment begins.
Contact for more information: [email protected]
Related Links:
PTEN FOUNDATION
MALAN FOUNDATION
SYNGAP RESEARCH FUND
https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html?eType=EmailBlastContent&eId=f811ee18-ffdd-4378-9139-f34a9a6cbfd4&fbclid=IwAR1SFMS3CsWr9DXdY0BsR6tcMdWjBBdYiZ078dnThlpWh5n9Kf95lJGFcr8
