We are building a strategic roadmap to find treatments for POGZ disorders. We are on a road to cure.

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This is our strategic roadmap to find treatments for POGZ-Related Syndrome/White Sutton Syndrome

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Therapeutic Program 1 :

Gene Replacement Therapy

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The goal of our gene replacement therapy program is to insert a healthy copy of the POGZ gene into cells in the body of individuals living with POGZ syndrome, to replace the loss of POGZ protein caused by the mutations. This is done through injection of an AAV9 viral vector that encodes the healthy POGZ gene.

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Basic Steps to build a Gene Replacement Therapy:

 

Step 1  -> Build POGZ Models

a) Patient specific pluripotent stem cell models (Patient IPSC)

b) Mouse model 

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Step 2 -> Study the Model

a) Understand the effect of mutation on brain and body (Molecular, cellular and behavioral analysis)

b) Identify robust biomarkers and end points

c) Learn what time points are effective for treatment

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Step 3 -> Test Gene Replacement Therapy on Models

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​Step 4 -> Safety Studies & Clinical Readiness

a) Conduct preclinical efficacy and toxicology study on tested models 

b) Submit Investigational Drug Application to FDA and other regulatory agencies.

b)Obtain regulatory approval to progress to clinical trials in human patients

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Step 5 -> Patient Clinical Trials

a) Conduct clinical trials to assess the safety and efficacy of the investigational drug/Gene Therapy

b) Seek Regulatory agency approval based on the outcome of the clinical trials

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Step 6 -> A Cure (The Goal)

Bring the POGZ community gene replacement therapy for POGZ disorders.

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Therapeutic Program 2 :

POGZ Drug Repurposing Therapy

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Drug Repurposing involves taking a drug that has been successful for another target and using it to treat symptoms of POGZ disorders. The drugs are small molecules which are chemical compounds with a lower molecular weight (like Tylenol). The process involves scanning vast libraries of small molecules to identify "hits" with therapeutic potential. Small molecules can be very important in treating important symptoms for POGZ disorders like movement disorders, memory, communication etc. 

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CPDF urgently need to run a 'High Throughput Screening' to find the right compound that will impair neural functions in POGZ mutant neurons. 

 

Basic Steps to build an HTS Program:

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Step 1  -> Build POGZ Models

a) Patient specific pluripotent stem cell models (Patient IPSC)

b) Mouse model 

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Step 2 -> Study the Model

a) Understand the effect of mutation on brain and body (Molecular, cellular and behavioral analysis)

b) Identify robust biomarkers and end points

c) Design assays to measure the presence, amount or function of the target gene.

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Step 3 -> Test High Throughput Screening on Models

a) Screen approved drugs and validate assays

b) Identify the right compounds with therapeutic potential

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Step 4 -> Safety Studies & Clinical Readiness

a) Conduct preclinical efficacy and toxicology study on candidates that passed the screening stage to move to clinical trials

b)Obtain regulatory approval to progress to clinical trials in human patients

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Step 5 -> Patient Clinical Trials

a) Conduct clinical trials to assess the safety and efficacy of the investigational drug

b) Seek Regulatory agency approval based on the outcome of the clinical trials

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Step 6 -> A Cure (The Goal)

Bring the POGZ community new treatments for POGZ disorders.

 

THANK YOU FOR YOUR SUPPORT !