Earlier this year, I wrote about the efforts of the Progeria Research Foundation to offer new hope to children affected by the rare disease progeria, by boosting access to the drug lonafarnib. To better understand the lives of those affected progeria and the work of the Progeria Research Foundation, I interviewed Audrey Gordon, President and Executive Director of the Progeria Research Foundation and Leslie Gordon, M.D., PhD, the Foundation’s Co-founder and Medical Director.
- Thank you for agreeing to speak with me. Could you tell our readers about what progeria is?
Progeria is a rare, fatal, paediatric “rapid aging” disease. Without treatment, children with progeria die of heart disease usually in their teens. Children with progeria are born looking normal, but in their first year of life they begin to lose their hair, fail to grow, and in time develop heart disease. The mission of the Progeria Research Foundation, a nonprofit advocacy group, is to find the cause, treatments and cure for children with progeria worldwide.
Progeria is caused by a genetic mutation in the LMNA (“lamin A”) gene, and results in a disease-causing abnormal protein called progerin. Progerin was discovered when the gene mutation for progeria was found and is responsible for causing premature aging of the body’s cells. We now know that progerin is made in all of us, but at a much lower rate than in children with progeria. Progerin is found in cells of the cardiovascular system and increases at about three percent each year that we age. Thus, there is a real biological link between progeria and normal ageing.
- What are the main challenges faced by those affected by progeria?
Health challenges and symptoms associated with progeria include growth failure, loss of body fat and hair, skin changes, stiffness of joints, hip dislocation, generalised atherosclerosis, cardiovascular disease, and stroke. Remarkably, the intellect of children with progeria is unaffected, and despite the physical changes in their young bodies, these extraordinary children are intelligent, courageous, and full of life.
- What work does the Progeria Research Foundation do?
The Progeria Research Foundation (PRF)’s mission is to discover treatments and cure for progeria. In just twenty years since our inception, PRF has achieved a number of historic milestones that have resulted in tremendous progress toward treatments and a cure for this ultra-rare, premature ageing condition, including the 2003 progeria gene discovery and the 2012 first-ever treatment discovery.
Through progeria clinical drug trials funded and coordinated by PRF, we’ve discovered a treatment, lonafarnib, which has been shown to increase lifespan and strengthen the cardiovasculature of children with progeria: stronger hearts and longer lives. In addition to lonafarnib, we also fund the exploration of other drugs and the cutting-edge gene editing field, which is exploding at a rapid pace. PRF has funded 64 researchers in fourteen different countries in the search for treatments and the cure.
PRF has many services to help these children, including genetic testing to confirm diagnosis, a cell and tissue bank to provide researchers with the tools they need, medical treatment guidelines, and programmes that enable those with progeria to access the treatment lonafarnib.
- Do you believe there are any unique circumstances those with progeria in India face?
In India, children with this very rare disease face challenges because most doctors have not treated a child with progeria. The doctors may not know much about treating the children and may not know that there is a pathway to getting the medication lonafarnib for the children. PRF can help by providing a clinical care handbook and a pathway to treatment.
- Progeria is classed as a rare disease, but that doesn’t mean it doesn’t exist. Is it a challenge to raise awareness of progeria?
Like any ultra-rare disease, raising awareness for progeria certainly comes with its challenges. Since 2008, we’ve successfully launched global campaigns to raise awareness for progeria, with a recent focus on India. Today, we are assisting eighteen children in India with progeria. Statistically, we expect there are sixty children with progeria living in India, untreated and in need of PRF’s vital services. The children are bright and wonderful, and we need to find them in order to offer our help.
- Is it a challenge to obtain funding for the treatment of and research into progeria?
PRF is a nonprofit organisation that raises funds primarily through donations. We are very fortunate to have a wonderful community of supporters who are deeply dedicated to supporting PRF’s mission and the children with progeria around the world. We always welcome and need additional supporters, so we can discover the cure as rapidly as possible, and win this race against time for these remarkable children.
- Are there challenges in diagnosing progeria patients?
The first step is to recognise that the child may have progeria. This can be difficult for a rare disease when doctors have not seen a child with progeria before or perhaps not learned about progeria in their training. A major effort for PRF is to put progeria into mainstream outlets and medical journals so that more children can be diagnosed. Initial signs are often unusual skin signs and failure to grow, followed by hair loss. Once progeria is suspected, there is a genetic test that can diagnose the child. If a doctor doesn’t have access to the test, PRF can help. PRF has a diagnostic testing programme that is no cost to the doctor or patient.
- Could you tell me about the ‘Find the Other 150’ campaign?
We launched our 2019-2020 ‘Find the Children’ campaign (previously known as “Find the Other 150”) in September, 2019. The campaign is designed to search globally for the undiagnosed children with progeria so that they, too, can have access to the unique care they need. Among PRF’s many other vital programs, this care includes access to lonafarnib, the drug that has been shown to improve the children’s heart disease and extend their lifespan.
There are an estimated 200 unidentified children with progeria worldwide, one-third of whom we believe are in India. In partnership with MediaMedic in Mumbai, PRF is building a national awareness campaign to assure the greatest possible outreach. We ask that anyone who might know of someone with progeria to reach out to us at email@example.com.
- What have you learned personally from your work with the progeria Research Foundation?
We founded PRF after our son, Sam, was diagnosed with progeria in 1998. At that time, families and children with progeria and their doctors had nowhere to turn for help and for hope. Every child with progeria deserves all that we can do to help find treatments and the cure.
- What is your hope for the future in terms of progeria?
First and foremost, I hope we see FDA and EMA approval for lonafarnib, a feat all too uncommon in the rare disease space. These approvals are significant as they could enable those with progeria to access lonafarnib by prescription in many countries, instead of through our U.S.-based clinical trials and the Managed Access Program.
Beyond that, we hope to find and help all children with progeria worldwide, as we continue on our path toward additional successful treatments, and hopefully soon, the cure.
- Do you have anything else you wish to add?
If you know of anyone with progeria-like characteristics: growth failure, total alopecia, skin tightening, and loss of body fat, we are here for them. Please help us find these children – because we can only help them if we can find them. Please visit progeriaresearch.org or contact us at firstname.lastname@example.org.
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