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 4/17/2025
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.
Epilepsy - Medication Formulation Survey
DEE-P Connections are conducting a survey about medication formulations. By participating in this survey, it will help them gather information about which formulations are most preferred in the rare epilepsy community.
This feedback is crucial for healthcare providers and pharmaceutical companies to understand real-world experiences, improve drug formulations, and ultimately support better health outcomes for everyone!
Survey Link: https://forms.office.com/r/qrZY3uUCip
Please complete by 4/30/2025
Note: While this survey is not focused solely on v-ATPase, we support its objectives. Your participation benefits the entire neurodevelopmental disorder community.