FOXP1-Daten
Sammlung Programm
Every piece of data shared by individuals and families living with FOXP1 syndrome helps researchers better understand the condition and identify potential treatment paths. Your participation isn’t just valuable — it’s essential to driving progress, uncovering patterns, and speeding up the search for a cure.
Join the International FOXP1 Foundation
Participate in the RARE-X Data Collection Program
RARE-X is a secure, patient-reported data platform that collects information about your child’s genetics, symptoms, medical history, and daily experiences — directly from you. This firsthand insight is essential to helping researchers understand the full picture of FOXP1 syndrome and identify patterns that might otherwise be missed.
FOXP1 Citizen Health
Citizen Health is a clinician-reported data platform designed to build a more complete medical understanding of FOXP1 syndrome. By securely sharing medical records and clinical insights directly from your child’s healthcare providers, researchers gain access to high-quality, standardized data that complements parent-reported information.
FOUND Study
Dr. Rujuta B. Wilson, MD, from the University of California (UCLA) is leading the FOXP1 Syndrome: Understanding through Neurodevelopmental Deep Phenotyping to Support Clinical Trials Study (FOUND Study). The FOUND Study is a longitudinal study seeking to fill important gaps in the knowledge about the neurodevelopmental features of FOXP1 syndrome.
You are eligible to participate in the study if you live in North America, and you have a child between the ages of 1 and 20 who has a diagnosis of FOXP1 Syndrome. This study is being conducted both in-person at University of California, Los Angeles and virtually. Study materials will be mailed, and assessments are administered via videoconferencing if traveling to Los Angeles is not feasible.
As a part of the study, motor, language, behavioral, cognitive, and autism symptom assessments will be administered. A parent interview will also be conducted to gain further insight into your child’s medical history, behavior, and development. This study will take place over the span of one year and includes 3 visits: a baseline evaluation, 6-month follow-up, and 12-month follow-up.
You will receive $50 for completing the baseline evaluation, $25 for completing the 6-month follow-up, and $25 for completing the 12-month follow-up. The total amount of compensation that can be earned is $100. You will receive verbal and written feedback about the results of the assessments.
If you are interested in having your child participate in this study or would like to seek additional information, you can contact the study coordinators via email: found-study@mednet.ucla.edu.
STRIPES study
Dr. Emily Neuhaus, a psychologist from the University of Washington, invites you to join a new study to understand more about the research experiences, interests, and priorities of families in the FOXP1 community. By better understanding family perspectives, we hope to make our research as relevant, worthwhile, and helpful as possible. To do this, we have launched the STRIPES study, a fully online survey for caregivers of individuals with genetic conditions. Participation is simple -- caregivers can enroll online at any time, and can complete the survey without any phone calls or study visits needed. To join, follow the link below or email Dr. Neuhaus at eneuhaus@uw.edu with questions.
More information or to enroll: https://redcap.link/uwstripes
FOXP1 Immune Study
Researchers at LSU Health Sciences Center are conducting a study to learn more about immune health and infection history in individuals with FOXP1 mutations. We are inviting parents or caregivers who have one child of any age with a FOXP1 mutation and at least one unaffected sibling to consider participating. Participation involves completing a one-time, anonymous online survey about your children’s health history. The survey takes about 15 minutes to complete. Participation is voluntary. There are no direct benefits or expected risks to participation. The information you provide may help researchers better understand health patterns related to FOXP1 and guide future research. If you would like to learn more or participate, please visit the link below to access the survey: https://redcap.link/FOXP1ImmuneSurvey
If you have any questions about the study, please contact Dr. Luke Wall (lwall@lsuhsc.edu) or Dr. Caroline Gueniot (clawl1@lsuhsc.edu).
Help Shape FOXP1 Research: Patient-Derived iPSC Initiative
A research team in Italy, led by Dr. Veronica Krenn, is working to develop new brain models using cells derived from individuals with FOXP1 syndrome. We are reaching out to gauge interest from families worldwide, with a specific focus on families residing in Italy. This is an early-stage, non-binding inquiry.
What Dr. Krenn’s team is doing
We grow miniature brain models (organoids) from stem cells to study how FOXP1 mutations affect early brain development.
Why patient cells matter
Cells carrying the same genetic changes as patients let us study the exact molecular disruptions present in FOXP1 syndrome, something standard models cannot do.
What Dr. Krenn’s team is requesting
A small blood or skin sample from an affected individual, used to generate stem cells in our lab. No commitment at this stage, we are only assessing interest.
The bigger goal
Identifying biological pathways and potential drug targets, with the aim of guiding new therapeutic strategies for FOXP1 syndrome.
Interested in learning more or expressing your interest?
For more information on the research initiative or to register your interest, please click the link below: