Get Involved
No matter your age, if you’re a patient affected by ADCY5-related dyskinesia, you can contribute to research. Sign up with Rare-X because the ADCY5-related dyskinesia Data Collection Program is critical to the drug and treatment development process.
Why is this important? As with all rare diseases, major blockers toward the development of new treatments are awareness of the disease, and little or patchy data. Patients and families can fill in these gaps by answering surveys provided by Rare-X.
To address these issues, ADCY5.org has partnered with Rare-X, which aims to make it easier for researchers to get the data they need to make it easier to include patients’ real world data in their work.
It’s easy and free! You can read more about it and sign up at https://adcy5.rare-x.org or by clicking the button below.
Any English-speaking caregiver or patient can enter their data from anywhere in the world. Over time, the data collection program will roll-out globally with translations beyond English.
Access your medical records through Ciitizen and choose to engage in research.
What is Ciitizen?
Invitae, a leader in the genomic testing space, recently acquired Ciitizen. The Ciitizen platform enables patients to store and organize their medical records in a single place online.
Tell me more.
Your health data tells a story, one that can teach us about ADCY5-related dyskinesia. The more we learn, the more information we have to share with our community and those helping us find treatment options.
What can we learn?
It would be nice to know all the medications patients have tried in our community. We’d also like to have a list of doctors across the country who are seeing patients affected by ADCY5-related dyskinesia. Another things we could learn is how often patients are waking up and experiencing sleep challenges. We can learn these things if just 50 patients sign up.
How does it work?
1. If you sign up using the button below and provide consent, Ciitizen will collect your medical records for you at no cost.
2. There is a second consent that allows the information to be shared with ADCY5.org. Besides medications, doctors across the country and sleep patterns of our community, what else would you like to learn?
ADCY5.org engages with researchers who are helping us identify treatments. If you choose, you can make the information available to research, de-identified, so no name is attached to the information.
3. If a biotech or pharmaceutical company wants to study the disorder, they will need to license the data. A portion of the profit is shared with you and ADCY5.org.
How do they collect the medical records?
When you sign up, you give Ciitizen the consent to collect your records on your behalf. You will be able to view all your medical records across institutions within an easy-to-use dashboard.
Who can see the information?
Who sees your medical records is up to you. If you choose, you can use one link to collaborate with your medical team and coordinate with caregivers. You can also choose to share with researchers and biotechs to champion future rare disease studies without your name identified.
How can I use the medical records that are collected?
You own your medical records. You decide how your records are shared, if at all. Some patients find it helpful to share certain records with a new doctor they are seeing.
What are the next steps?
The first step is to sign up using the button below. Select ADCY5-related dyskinesia as your diagnosis and then developmental delay. You’ll need a driver’s license for identification, a birth certificate of the person affected by the disorder to ensure records are collected for the correct patient, and a list of the institutions where you have gone for care. The site will ask for a selfie photo of you when you set up your account. This is not an actual photo, it’s simply verifying you are a person entering the information.
What if I reside outside the US?
Patients residing outside the US may sign up and upload their medical records.
How can I learn more?
Click the Sign up for ADCY5.org Registry button below and view the website. Feel free to reach out to us for more information.
Any English-speaking caregiver or patient can sign up and upload their medical records. Currently, the data collection by Ciitizen is from medical institutions within the United States.
Patients who are 15 years or older can participate in a two day study conducted by researchers at the Brain Institute at the Salpêtrière Hospital in Paris, France. Travel expenses are covered for the study participant and one accompanying person.
For more information, you can download the leaflet below. This contains more details as well as contact information for the researchers running the study.
This study is for patients 15 years and older.
Donate
ADCY5.org is an entirely volunteer run organization, and every financial donation goes entirely to support research. You can donate to us directly using the button at the top of the page or by following the link to the donation page below.
We are a registered 501(c)(3) nonprofit and also qualify for matching donations — check with your company to see if they have a donation-matching program.
You can also set up a personal fundraiser on Facebook by choosing ADCY5.org as your selected charity.
100% of donations go to support research on the ADCY5 gene. Check with your employer to see if they offer matching donations!
Thank you for your help!
Volunteer
ADCY5.org is entirely volunteer run. If you are interested in helping, please send us an email.
Thank you for your help!
No-Charge Genetic Testing
No-charge genetic testing is available.
If symptoms sound familiar to you, get the form you need to get testing at no-charge.