Family Research Opportunities
"We participate in research because I want my child to be counted. The more people share their stories and participate in research, the more information there will be for all of us and for future generations. I have always believed in the importance of research and supporting the scientists and doctors who are investing their time in learning about our rare disease by investing my family's time in participating in research. It is vitally important for everyone to be represented!"
Mellinger Family
Your involvement in research has the power to make a lasting impact, not only in your life but for countless others who share your journey with a rare disease.
Some reasons why it is important to participate in research are:
- Advancing Medical Knowledge: Rare diseases often lack the extensive research and clinical trials that more common conditions receive. By contributing your insights and experiences, you become an integral part of the solution.
- Improved Diagnostics: Many rare diseases go undiagnosed or misdiagnosed for years, causing unnecessary suffering and delays in treatment. Your participation can help researchers identify key biomarkers, leading to earlier and more accurate diagnoses. This knowledge can bring much-needed relief to individuals and families.
- Community Support: By participating in research, you become part of a supportive community of individuals who understand the challenges you face. Sharing your experiences can provide emotional support and validation to others in similar situations, creating a sense of unity and strength.
- Empowering Future Generations: Your involvement may help future generations by providing insights that lead to more effective treatments. Your contributions today can change the lives of individuals who haven't even been born yet.
- Raising Awareness: Rare diseases are often overlooked or misunderstood by the public and healthcare professionals. Your participation can help raise awareness about these conditions, leading to increased funding, resources, and ultimately, improved care.
Your voice, experiences, and data matter greatly to learn more about OCNDS and provide hope for a brighter future.
Current OCNDS Research Opportunities
AIM: Simons Searchlight collects family, medical, developmental, and behavioral information. Information is synthesized and results provided back to families. Data is shared with qualified researchers.
WHAT IS INVOLVED? They conduct online surveys and phone interviews with families and individuals. Some surveys are reassigned annually to capture any changes since your last participation. After completing each survey, you’ll receive a gift card. You can pause and return to the survey at any time for your convenience.
ELIGIBILITY: You or your family member must have a genetic diagnosis caused by one of the genes on the Simons Searchlight list – CSNK2A1, the gene that is altered in OCNDS, is on the list.
Biological parents and full biological siblings can also participate. If the person who has the genetic variant is under 18 years old, their biological or adoptive parent or guardian will need to create an account to begin participation.
We currently offer study participation in English, Spanish, French, and Dutch, and we will soon be offering participation in Italian, German, and Portuguese.
AIM: Citizen Health aims to build high-quality natural history data in a fraction of the time. Researchers and pharmaceutical companies have already used data from Citizen Health to submit Investigational New Drug (IND) filings with the FDA. This is an incredible opportunity for our community to accelerate research.
WHAT IS INVOLVED? Submitting a driver's license or government ID, adding your doctor's information, and choosing to opt in or out of research.
ELIGIBILITY: Citizen is currently available to US residents. English-speaking international participants are welcome to sign up, but they must upload their own records.
AIM: A disease concept model is a tool that helps researchers, doctors, and regulators understand what it’s really like to live with a specific condition. It’s built by gathering information directly from patients, families, and caregivers about the symptoms they experience, how those symptoms affect daily life, and what truly matters most to them. Your insights will directly help researchers and clinicians determine which outcomes should be prioritized in future clinical trials and healthcare strategies for OCNDS.
WHAT IS INVOLVED?: A 60-90 minute interview to explore your experiences, symptoms, and challenges, with the goal of identifying what matters most to you. Your insights will directly help researchers and clinicians determine which outcomes should be prioritized in future clinical trials and healthcare strategies.
ELIGIBILITY: Anyone in the world with a confirmed diagnosis of OCNDS. All ages welcome. Must be English-speaking.
CONTACT:
grace.e.branger@vanderbilt.edu
4. PARTNER: Sign Up for a Clinical Research ID (CRID)
AIM: The Clinical Research ID (CRID) is a unique, universal, patient-generated identifier to facilitate collaborative rare disease clinical research. It is a powerful tool designed to connect rare disease families with groundbreaking research opportunities while safeguarding privacy. The CRID is a patient- or caregiver-generated identifier specifically for use in clinical research. The parent/patient decides who to share it with. CRID enables researchers to access de-identified data, accelerating discoveries and advancing treatments. Data linked to your CRID can be used across multiple studies, maximizing its impact. All information is kept private and secure, and only de-identified data is used for research purposes. The CRID is a free service.
WHAT IS INVOLVED?
Signing up for a CRID is quick and straightforward. Here’s what you’ll need:
- Basic Personal Details: Such as name, date of birth, and contact information.
- Medical Information: Key details about the diagnosis, symptoms, and any relevant genetic information (if available).
- Consent: Agreement to participate in research and share de-identified data securely.
How to Sign Up
- Visit thecrid.org.
- Follow the simple steps to create your unique identifier.
- Use your CRID to join studies and drive progress in rare disease research.
Every sign-up brings us closer to better treatments and a brighter future for our community.
ELIGIBILITY: The application currently supports 8 different languages, including English (US and UK), Spanish, French, Portuguese, Italian, German, Dutch and Irish.
AIM: Simons Searchlight collects blood from families that have consented to provide samples as a part of their participation in the study. The blood samples collected for Simons Searchlight are de-identified and stored at a research repository.
WHAT IS INVOLVED? Provide a blood sample and/or salvia sample for research studies.
Most of the time, blood is more useful for scientists. This is because within your blood, there are many cell types that can be used and turned into other cell types.
ELIGIBILITY: Due to the difficulty of shipping saliva and blood samples internationally, we can only collect samples from participants in the United States.
However, Simons does review international blood donation on a case-by-case basis.
6. PARTNER: Utility of nasal nitric oxide as a biomarker of ASD and epilepsy - Willsey Lab (UCSF)
AIM: Learn more about diagnostic tools for autism spectrum disorders, including OCNDS.
RATIONALE: Nasal nitric oxide is a test to detect defects in a cellular
structure called cilia, which our research has shown to be relevant to ASD and epilepsy genetics. Therefore, we want to determine whether this test is relevant to ASD and epilepsy as well.
ELIGIBILITY: Measurements from individuals with rare neurodevelopmental disorders, such as OCNDS, as well as their biological parents.
All ages.
Open to U.S. based and international families.
WHAT IS INVOLVED? Provide genetic information, sex, age. Nasal nitric oxide levels will be measured using Niox.
15-minutes total duration.
No compensation available.
Questions? Contact James Schmidt (James.Schmidt@ucsf.edu)
AIM: Promotes innovative, high-quality research on postmortem brain tissue with the goal of improving the understanding of the biological causes of autism spectrum disorder (ASD) and related neurodevelopmental conditions.
Research using postmortem brain tissue provides one of the most direct ways to understand the biological causes of ASD and identify potential therapeutic targets in the brain.
WHAT IS INVOLVED? Brain donation following the death of a loved one with autism.
Pre-registration is not required to become a donor however, long-term planning can make the donation process easier.
There is no cost to the family associated with postmortem brain donation.
8. PARTNER: EEG Retrospective Review
AIM: Dr. Rushing is collecting EEG reports/summaries to submit to Dr. Marie Varnet at UT Southwestern to assess if any similarities exist across individuals with OCNDS.
ELIGIBILITY: All ages, all timepoints for EEG measures, open internationally as long as parent/caregiver provides records directly to Dr. Rushing.
We are working with Dr. Varnet to expand to a larger, Institutional Review Board (IRB) approved review. For more information, contact Dr. Rushing at
gabrielle@csnk2a1foundation.org.
AIM: UCLA Researchers are doing a study to learn about motor, cognitive, and behavioral, and developmental features in children with OCNDS that are 1-5 years of age.
The study has options for an in-person visit at UCLA or a virtual study visit.
WHAT IS INVOLVED? Your child will receive up to $100.00 for participation and you will be provided verbal and written feedback about your child’s development.
Behavioral, cognitive, and motor assessments. Wearable sensors to track leg movements.
ELIGIBILITY: Age 1-5 years old and have a clinical diagnosis of a chromatin modifying genetic disorder (OCNDS falls into this category).
If you are interested in having your child participate in this study or would like to seek additional information, you can contact the study coordinator via email or phone:
RQLy@mednet.ucla.edu /
310-206-1045.
Stanford University researchers are recruiting individuals with Autism Spectrum Disorder (ASD) between 14-25 years old for a research study to examine the effects of Pregnenolone, a naturally occurring neurosteroid hormone, on irritability.
In order to participate, participants must:
- Be willing to take Pregnenolone or placebo for at least 14 weeks and provide blood, EKG and urine samples
- Be willing to participate in behavioral and cognitive testing
- Free of active serious medical problems
- All study activities can be completed remotely
There is no cost to participate in this study at Stanford University.
Autism and Developmental Disorders Research Program
If you have any questions, please contact us at:
650-736-1235 | autismdd@stanford.edu
For questions regarding participants’ rights, contact 1-866-680-2906.
11. PARTNER: UCLA CHAMPION Study (Chromatinopathies and Autism: Motor Phenotyping and Indicators of Neurodevelopment)
This study is being conducted both in-person at UCLA in Los Angeles and virtually. Eligible children anywhere in the United States can be enrolled - study materials would be mailed and assessments are administered via videoconferencing if travel to Los Angeles is not feasible.
The CHAMPION Study is being led by Dr. Rujuta B. Wilson, MD, a neurodevelopmental pediatric neurologist and researcher at UCLA who studies genetic neurodevelopmental conditions. This study is enrolling children 1 to 5 years old with Okur-Chung Neurodevelopmental Syndrome or other Chromatin Modifying Disorders (also known as Chromatinopathies).
Motor challenges tend to affect children who have OCNDS or other Chromatin Modifying Disorders and this research hopes to develop better tools/methods to help identify, monitor, and evaluate delays as well as come up with better treatment and therapeutic options. Another goal of this study is to better understand the behavioral, cognitive, and social development of children with OCNDS.
As a part of the study, behavioral, cognitive, and autism symptom assessments of your child will be administered. In addition, your child would be asked to wear small sensors on his/her arms and legs during the day over a two-day period at home. Lastly, a parent interview is conducted to gain further insight into your child’s medical history, behavior, and development.
Your child will receive up to $100.00 for participation and you will be provided verbal and written feedback about your child’s development.
If you are interested in having your child participate in this study or would like to seek additional information, you can contact the study coordinator via email or phone: RQLy@mednet.ucla.edu and SereenWong@mednet.ucla.edu / 310-206-1045.