biosample collection
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We are currectly collecting at east 20 biosamples from patients
What is a biosample?
Biosample is short for biological sample and biosamples are incredibly valuable in research, diagnosis, and treatment because they contain biological information (like DNA, RNA, proteins, metabolites, cells, etc.) that can be analyzed to understand health, disease, and biological processes.
Common types of biosamples include:
- Blood (whole blood, plasma, serum, white blood cells)
- Tissue (from biopsies, surgeries)
- Urine
- Saliva
- Cerebrospinal fluid (CSF)
- Bone marrow
- Nasal swabs
Why is important?
Collecting biosamples from affected patients is crucial. These samples allow scientists to:
- Identify genetic mutations responsible for the disease.
- Study how the disease affects cells and tissues at a molecular level.
- Develop biomarkers.
- Test potential drugs or therapies in a lab setting before human trials.
- Understand the variability of the disease across different individuals.
In essence, biosamples are the physical keys that unlock biological secrets, allowing researchers to study diseases more effectively.
How to participate?
We're seeking 20 v-ATPase patients to contribute to this critical effort. Your samples will be stored at our Biorepository and accessible to researchers worldwide, fueling global discovery.
Sample collection opportunities are available at upcoming conferences hosted by COMBINEDBrain partners – they welcome v-ATPase patients AND unaffected family members (as controls!) to contribute. Other participation methods exist too.
To learn how you or your family can contribute and help drive v-ATPase research forward, 📩 Contact us today (even if the city next to you is in a few months away, you should sign up as soon as possible and we can help you with that!)
International Locations Coming Soon!
clinical trial
Bexicaserin Phase 3 trial for seizure reduction in DEE (including v-ATPase conditions).
Children with v-ATPase gene mutations AND epilepsy may now be eligible to participate in a new Phase 3 clinical trial. This study is not a v-ATPase Alliance led study, but we share it because it holds the potential to lead to a new treatment option, improving seizure control and enhancing the quality of life for our children.
Eligibility for this crucial trial includes:
- Individuals aged 2 to 65 years old.
- Diagnosed with Developmental and Epileptic Encephalopathy (DEE), which includes v-ATPase conditions.
- Experienced the onset of seizures from birth to 5 years old.
- Have had an average of 4 seizures per month during the last 3 months.
Introducing DEEp Studies Office Hours & Key Resources
To support our community and keep information up to date, we have monthly meetings with the DEEp Studies Office at Lundbeck, company running the study! These sessions provide direct clinical updates and are also a chance to take any questions from our community, so please reach out to us if you need any help.
DEEp OCEAN study has a dedicated website with key information, including an overview, frequently asked questions, a map of planned U.S. sites, and a screener for interested families.
The study is also posted on www.ClinicalTrials.gov - Clinical Trials ID: NCT06719141
International Community
International sites can be find in this link: https://deepdeestudy.global/ - more will be announce.
This study is expected to have ~80 sites across the US, Europe, Asia and Australia, until 2026. So anywhere you are in the world you might have access to it, if it makes sense for your family. Talk with your doctor to see if this trial is a good fit for your loved one.
Updated October 22, 2025
looking for more patients
New Opportunity for all ATP6V0A1 Families, Clinicians and Researchers
For the attention of parents with kids with variants in the ATP6V0A1 gene.
We have done some work to characterise variants in the Atp6v0a1 gene in the laboratory setting. We are now looking to include children or adults affected by variants in ATP6V0A1 in a study to develop new knowledge combining the clinical spectrum (signs, symptoms and complications), and genetic and scientific data.
We will include new individuals (those not in previous publications) as well those already in previous publications for follow up data, given how rare this condition is.
We are working with Profs Carlo Rinaldi, Renzo Guerrini, and Dr. Davide Mei, whom have clinical and scientific interests in the neurological V-ATPase disorders.
Please contact us below if you would like more information and would like to participate in the study which involves data collection from your clinicians/ physicians (neurologist, geneticists, pediatrician) who will also be included in the study.
With warm wishes,
Dr. Kasia Whysall mom of Niamh - https://iamnumber17.ie/ - and Scientist
Prof. Nicholas Allen, Niamh’s Neurologist
Reach out: kasia.whysall@universityofgalway.ie
surveys with a purpose beyond v-ATPase
Updated 10/22/2025
ORTAS Toileting Survey - Pilot Study
COMBINEDBrain is recruiting for a pilot study of the ORTAS (Observer Reported Toileting Assessment Survey)!
We hope to recruit ~200 participants in order to help us validate this toileting survey as an outcome measure for people with neurodevelopmental disorders. We are looking for participants representing the full spectrum of toileting abilities (no independence at all to full independence)! We need: caregivers of people with neurodevelopmental disorders of all ages, adults with neurodevelopmental disorders, and caregivers of neurotypical children (ages 1-6) as controls.
- You can email ORTAS@combinedbrain.org to participate!
Note: While this survey is not focused solely on v-ATPase, we support its objectives. Your participation benefits the entire neurodevelopmental disorder community.
Living Rare Study
NORD - National Organization for Rare Disorders is asking for participation in this study:
Living Rare Study.
Living with a rare disease often brings challenges that touch every aspect of your life. Yet, due to a lack of data, doctors, lawmakers, and others frequently don’t fully understand that impact. You can help change that. By participating in the Living Rare Study you can help fill this critical information gap and drive meaningful progress.
What is the Living Rare Study?
It’s the first large-scale, long-term research study dedicated to capturing the comprehensive experience of living with a rare disease. The more people who join, the stronger the data becomes, helping to fuel improvements in research, health care, and resources that benefit everyone living with rare disease.
- Open to people living in the United States who are diagnosed with or suspect they have a rare disease and their caregivers.
- Covers health care access, daily life, financial, emotional, and social impacts.
- Takes about one hour to complete, and you can do it at your own pace. Available in English and Spanish.
- Ongoing impact — update your info yearly to help us track how rare disease challenges change.
- Your privacy is a priority — all data is confidential and securely stored on NORD’s HIPAA-compliant platform.
Note: While this survey is not focused solely on v-ATPase, we support its objectives. Your participation benefits the entire neurodevelopmental disorder community.
Rare Barometer Survey on Living with a Rare Disease
EURORDIS–Rare Diseases Europe is asking for participation in this study:
Rare Barometer Survey
This study aims to gather the real-world experiences of individuals and families managing life with a rare or undiagnosed condition.
What is This Survey About?
This new Rare Barometer study investigates the supports, coping mechanisms, and resources that help you live life to the fullest. It asks questions about:
- How you cope with daily stress.
- The kind of support you can count on (from care, services, families, and communities).
- How you manage to learn, work, and contribute to your community.
By gathering these first-hand experiences, we can advocate for solutions that are truly tailored to the real, day-to-day needs of our community.
Who Should Participate?
This survey is open to all people living with a rare or undiagnosed disease and their family members from any country in the world.
- It is available in 25 languages.
- It takes approximately 20–25 minutes to complete.
Why Your Voice Matters
Your participation directly strengthens our advocacy. The results will be used to promote real change by being shared with:
- Survey participants and patient organizations (like the v-ATPase Alliance).
- Policymakers and the general public.
Crucially, if at least 30 people from the v-ATPase community participate, we can request tailored results to better understand and serve the unique needs of our families!
Key Information & Links
Deadline: December 14th
Take the Survey! www.tiny.cc/RB-MH
More Information: www.tiny.cc/RB-MH-info
Contact for Questions: rare.barometer@eurordis.org
Thank you in advance for your participation!