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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.

Roadmap

Six Steps to a Cure

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

Complete
Step 1 — Gene Identified
Researchers at Hadassah Medical Center identified the SLC1A4 gene and its role in brain serine transport. The founder mutation in the Ashkenazi population was characterized.
Complete
Step 2 — First Patients Diagnosed
Fewer than 100 patients worldwide have been diagnosed, primarily through whole exome sequencing. Case reports have been published establishing the clinical phenotype.
In Progress
Step 3 — Natural History Study
A natural history study — currently in progress — systematically collects clinical, genetic, and outcome data from known patients worldwide, forming the foundation for every subsequent research step.
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 advances to human trials, with affected children as participants — and hope as the outcome.

Why a Natural History Study?

The natural history study currently underway is a critical early step in the research pipeline. Without systematic data, researchers cannot:

  • Understand the full range of symptoms and severity
  • Identify which treatments might work for which patients
  • Design clinical trials with adequate sample sizes
  • Attract major research funding from NIH or private foundations
How Your Money Is Used

100% Goes to Research

🔬

Laboratory & Animal Models

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

💊

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.