The PolG Foundation International Cohort Workshop

The PolG Foundation

Problem: There is no treatment and no cure for PolG disease, a devastating rare genetic mitochondrial disorder. 

We are investing in what's missing for the PolG patient community: connecting patients with the best care and the best science to rapidly move towards an effective treatment.  Our International Cohort Workshops are our solution for several challenges:

1. people living with PolG are almost always dis-connected from great care and great investigators focused on PolG biology
2. PolG healthcare providers usually work in isolation and do not have the benefit, due to institutional silos and geography, of collaborating with colleagues to optimize care
3. PolG investigators likewise work in silos associated with their specific discipline and geography, missing opportunities for creativity and cross-discipline idea pollination
4. PolG investigators and PolG patients, with very rare exception, have never met each other   

Breaking down silos in science and discovery, sharing knowledge, and sharing the patient experience will drive understanding towards a 1st-ever effective treatment and a cure.  

In this we will be changing the narrative for All rare diseases.  Moving from a world in which decades are typically required to get to a treatment, to one where it takes just a few years.

In the most basic terms, we know what it means for a person living with a rare disease to meet in-person someone else with their disorder.  It can feel like they are being truly seen for the 1st time.  And we know what it means for investigators to meet people living with the disorder that has sparked their curiosity.  To move from the purely intellectual to research borne of a passion to help, to relieve suffering and save precious lives.  

Using multiple social media platforms, we sought to create a platform for bringing together PolG patients and families, PolG healthcare providers and PolG investigators.  This is the PolG International Cohort Workshop.  The first occurred in 2023.  Based on its success, we are planning additional workshops--again using social media as our aggregator--with a new twist.  We will be hosting International Cohort Workshops which are customized to the specific most deleterious symptoms of PolG:

• PolG Movement symptoms (ataxia)
• PolG Pain
• PolG Gastrointestinal  symptoms 

Connect global clinical and research experts with PolG patients suffering with these three types of devastating symptoms will afford tremendous opportunity for sharing talent and experience.  

In doing this, we are also creating for the first time a global central POLG hub for treating physicians, hosted by the PolG Foundation.  

Our mission is to meaningfully reduce the suffering of the PolG patient community which is ultra-small and spread across the globe. 

Life expectancy with PolG is inversely related to age of first symptoms.  Babies and small children usually only survive a year or two.  Adolescents, 8-10 years.  Adults, 12-15 years. 

Our first International Cohort Workshop in 2023 identified about 820 patients with PolG from the United States and 8 other countries.  Many live in settings where access to great healthcare is limited.  Most were not aware of, and not involved with, research related to PolG.  

Our Workshops are a platform for removing barriers of geography and access for PolG patients and their families.  

We executed on our plan for the first PolG International Cohort Workshop in the fall 2023.  The Workshop was held in Bologna, Italy, a relatively "central" location for a very international community of patients, investigators and clinicians--most of whom having never been in the same room with another.  

Outcomes of our inaugural workshop included:

1. Many, many heartwarming moments of introduction and sharing for PolG patients and their families with each other and with PolG clinicians and researches
2. The identification of slightly more than 820 PolG patients from 9 countries
3. New research and new cross-institutional and cross-discipline collaborations
4. A separate collaborative network, currently with 4 institutions in 4 separate countries towards the creation of a prospective PolG Natural History study

The silos which exist in the rare diseases research community are tall and thick.  

Our International Cohort Workshop in 2023 addressed this issue where, for the first time ever, we saw the beginning of cross-institutional collaborations in PolG, for instance between the Imagine Institute in France and Jackson Laboratories in Maine, United States.  The result, within just 15 months, was creation of the PolG Research Toolbox and release of several PolG mouse models for use by the general research community. 

As well, our first Workshop represented a huge step towards a "research-ready" community of PolG patients and their families in order that the biology of PolG can be better understood.

The Workshop also fostered the creation of the "hub" for PolG clinicians to have a central clearinghouse for the sharing of expertise and challenges.  

And, most importantly, we connected PolG patients and their families to great care.  

The Amgen Prize will provide us with necessary funding to support our passion to host future International Cohort workshops.  

In hosting these Workshops The PolG Foundation acknowledges for most every PolG patient and their family, the cost associated with joining us is prohibitive.  As well, many PolG healthcare providers and researchers have limited or no budgets for this type of professional activity.  We are filling these gaps.

As well, the Amgen Prize will be a source of tremendous recognition for our young Foundation, only in existence since 2022, as we seek to broaden our reach and impact.   

The success of our 1st International Cohort Workshop greatly exceeded our expectations--and proved to us it's an effective solution to a daunting problem.  

Though we are a very small team, we know we have the experience and the passion to execute on our goal of no less than three additional International Cohort Workshops in the next 18-24 months.  

Expertise in our team includes administrative and leadership, science, strategy, patient outreach and event management. 

Impact Goal, Next Year: 

Launch first-ever prospective PolG Natural History Study.  

Outcomes: 

• # and location of participating organizations representative of international scope of our work.
• Prospective data set congruent with regulatory authority expectations.  
• 1st group of 50 PolG people enrolled by 12/31/24. 

Impact Goals, 5 Years:

1. Host three separate international symptom-specific cohort workshops by year-end FY26.
2. Natural History data set subjected to FDA and EMA regulatory audits.

Outcomes:

• New expertise and collaboration in addressing PolG pain for which none presently exists
• New understanding of the PolG movement disorder, including the potential for a biological target for treatment
• Launch of the PolG Natural History study  
• 1st-ever effective treatment for PolG approved and commercially  available in the United States and Europe

The PolG Foundation Roadmap to an effective treatment/cure:

Full-time staff: two (2)

Contractors: two (2)

Volunteer staff: one (1)

Intern: one (1)

1.5 years 

We are committed to DEI in all that we do, including how we think about recruitment to our team, how we engage the PolG patient community and the identities of the investigators and clinicians with whom we work (and, in the case of researchers, those we fund).  

A primary focus of our International Cohort Workshops, as described above is to address fundamental disparities in clinical care and in research for the PolG patient community. 

Our mission is to achieve an effective treatment and a cure for PolG.  As such, all of our programmatic efforts need to inform or advance this goal.  

Our Workshops are helping to drive our mission by advancing our ability to engage with patients, clinicians and researchers in new and meaningful ways.

We are about to launch the PolG Foundation 10Yr Development Campaign to ensure our sustainability.  

Prior to launch, we have already collected nearly 20% of our ultimate goal.  Successful fulfillment of our campaign will provide necessary funding for the three core programmatic areas of our organization:

1. Funding additional research 
2. Positioning the organization, on behalf of PolG patients, for effective collaboration with the drug development and pharmaceutical industries
3. Successful regulatory approval