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Research

The Path From Diagnosis to Treatment

We are at an early but critical stage. Your donations directly fund the scientific milestones that will one day lead to treatments for children with SLC1A4 Deficiency.

Six Steps to a Cure

Research into SLC1A4 Deficiency follows a planned pathway. We have completed the first two milestones and are actively fundraising for Step 3.

Complete
Step 1 — Gene Identified
Dr. Wendy Chung and an international collaboration of researchers identified the SLC1A4 gene and its role in brain serine transport. The founder mutation in the Ashkenazi Jewish population was characterized.
Complete
Step 2 — First Patients Diagnosed
Approximately 35 children worldwide have been diagnosed with SLC1A4 Deficiency to date, although given the high carrier rate among Ashkenazi Jewish people many more likely remain undiagnosed or misdiagnosed since the gene responsible has only recently been identified.
In Progress
Step 3 — Natural History Study
A natural history study is systematically collecting clinical, genetic, and outcome data from known patients worldwide, forming the foundation for subsequent research steps.
Planned
Step 4 — Develop Laboratory Model Funding Needed
A mouse model carrying the human SLC1A4 mutations will allow researchers to study disease progression in detail and test potential therapies before human trials.
Planned
Step 5 — Investigate Therapies
Potential approaches include gene therapy to restore ASCT1 function and small molecule modulators. Each will be tested in the animal model.
Future
Step 6 — Begin Clinical Trials
The most promising therapeutic approach will advance to human trials, with affected children as participants — and hope as the outcome.

Advocacy Efforts

SLC1A4 Deficiency advocacy efforts are underway to add this condition to all Ashkenazi Jewish genetic testing panels, so that families have information about their carrier status before pregnancy.

Research Activities

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Laboratory & Animal Models

Building the cellular and animal models needed to study disease mechanisms and test potential therapies before human trials.

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Therapeutic Candidate Testing

Identifying and evaluating potential treatments — including gene therapy and small molecule approaches — in preclinical models.

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Clinical Trials

Moving the most promising therapeutic candidates into human trials, giving affected children access to potential treatments.

An Excellent Test Case

SLC1A4 Deficiency is an excellent test case for treating other genetic conditions. It has several features that make it a compelling condition for building a treatment-development pathway. The SLC1A4 gene is known, the disease mechanism is increasingly understood, and the genetic characteristics of the disease are amenable to gene therapy.

SLC1A4 Deficiency is due to a mutation in a single gene. This gene is small enough to be corrected with known genetic technology. In addition, SLC1A4 Deficiency does not significantly impact organs other than the brain, which reduces the complexity of proposed treatments.

For these reasons, the SLC1A4 Initiative serves as more than a single-disease effort. Success with treating SLC1A4 Deficiency would accelerate treatment development for other genetic conditions.