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Research Initiatives

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Our greatest priority is supporting research that gives families answers, direction, and hope for the future. Guided by our Scientific Advisory Board, donations are carefully directed to researchers studying the ZBTB20 gene, how gene changes affect our children, and how this work may lead to future treatments for Primrose Syndrome.

Ongoing Research Projects

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Contact Registry

Joining the contact registry does not mean enrolling in a research study. Instead, it is a valuable tool for keeping families connected and informed. With your permission, it also allows researchers to contact individuals who may be interested if future studies become available.

Our contact registry is a secure way for individuals and families affected by Primrose Syndrome to share basic contact information with our foundation. It helps us provide updates about research opportunities, community events, educational resources, and potential studies—without sharing personal information publicly.

Voluntary list where families share basic contact information so they can receive updates about Primrose research, resources, and opportunities

Join the Registry
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Drug Repurposing

Screening existing medications that might help children with Primrose Syndrome now

Drug repurposing studies whether medications already approved for other conditions might help people with Primrose Syndrome. Researchers test these existing drugs in Primrose-specific cell models to see if they can improve how the ZBTB20 gene functions or reduce the effects of gene changes. Because these medications already have known safety profiles, this approach can move more quickly than developing new drugs from scratch, offering a hopeful, practical path to potential therapies.

Research Highlight

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A young boy is lying on a hospital bed with his eyes closed, wearing an oxygen mask connected to a ventilator. Two healthcare professionals in blue scrubs are attending to him, one holding the mask in place while the other supports his head.

In December of 2025 we partnered with both Mayo Clinic and Unravel Biosciences for a novel collaboration for Primrose Syndrome drug repurposing study. Read below to see what this means for our Primrose community.

Drug Repurposing

A Faster Path to Hope

Partnership with Mayo Clinic (BabyFORCE Study)

A Primrose patient has enrolled in the BabyFORCE study, where a small skin biopsy was used to create patient-derived fibroblast cells. These cells help researchers understand how ZBTB20 is affected and allow AI-driven screening of FDA-approved medications. Promising drugs are carefully reviewed for safety and tested directly on the patient’s cells.


Partnership with Unravel Bioscience

The same patient (and his brother-as a control) joined Unravel Bio’s RareShift program. After collecting DNA using at-home nasal swabs, researchers are now analyzing the boys RNA and screening FDA-approved drugs and small molecules, vitamins, dietary compounds, and over-the-counter agents for potential therapeutic benefit.


Bringing It All Together

Through Beyond Primrose’s efforts, Mayo Clinic and Unravel Biosciences are working together to compare findings and strengthen promising treatment leads. While nothing is guaranteed, this represents a hopeful first step toward future therapies—guided by science and carried out with careful medical oversight.

By advancing this novel work, we have the potential to move the field forward and get closer to answers, options, and meaningful progress for children and families living with Primrose Syndrome.

Upcoming Research Projects

Primrose Registry

Creating an international IRB-approved registry to collect patient data and guide future clinical trials

An IRB-approved registry is a research registry that has been carefully reviewed and approved by an Institutional Review Board (IRB)—an independent group that helps protect the rights, privacy, and safety of participants. This approval ensures that information is collected ethically, securely, and only with clear, informed consent from families.

An IRB-approved registry allows families to voluntarily share medical and developmental information in a structured and secure way. This helps researchers better understand the condition over time, identify patterns, and support future clinical trials—while always prioritizing family privacy and choice.

We are currently exploring several trusted registry platforms. With input from our board members, parents, and Scientific Advisory Board, we will partner with the platform that best serves the entire Primrose community—ensuring data is de-identified, confidential, and easy for families to complete, while capturing the most meaningful information for advancing research.

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Functional Studies

Identifying how ZBTB20 mutations affect the body and where treatments can target

Functional assays let scientists test how ZBTB20 gene changes affect cells and whether specific drugs or treatments can help correct or improve that function. They are a critical step in moving from a genetic diagnosis toward identifying therapies that may actually work for people with Primrose Syndrome.

Researcher doing genetic experiments with microscope

iPSC Cell Line

Developing stem-cell models to study the disease and test potential therapies

iPSC cell lines allow researchers to turn a small sample of a child’s cells into brain and other cell types affected by Primrose Syndrome, giving scientists a powerful way to study the disease and test potential treatments, without risking our children’s health.

Doctor and pediatric patient smiling and high giving

Natural History Study

Laying the groundwork for a multi-year study to understand how Primrose changes over time.

A natural history study follows individuals over time to learn how Primrose Syndrome affects growth, health, and development. This information is essential for identifying patterns, predicting outcomes, and designing future clinical trials.

Researcher in lab using a microscope

Biomarkers

Establishing measurable signals that track disease changes and treatment response

Biomarkers help researchers track how Primrose Syndrome changes over time and how the body responds to treatment. By measuring things like lab values, imaging, or other signals, scientists can tell whether a therapy is truly helping and guide future clinical trials.

Researcher conducting gene therapy experiments in lab

Gene Therapies

Treatments that target the faulty gene itself to address the root cause, not just symptoms

Gene therapies aim to correct or replace the faulty ZBTB20 gene so cells can function more normally. By targeting the root cause of Primrose Syndrome, these approaches have the potential to offer longer-lasting, more meaningful treatment than symptom-based care alone.

Support Primrose Research

Every donation supports research that brings answers and future treatments closer for Primrose families.

Make a Donation
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