About Progeria
1 in ~19M
PEOPLE LIVING WITH PROGERIA
<400
CHILDREN LIVING WITH
PROGERIA WORLDWIDE
14.5 Years
AVERAGE LIFESPAN
WITHOUT TREATMENT
Progeria occurs equally across all races and sexes. Despite the physical challenges the children and young adults face, they have normal intelligence and motor development.
Progeria is caused by a single typo in a child’s DNA. Just one wrong letter in a gene called LMNA. Normally, LMNA produces a protein called lamin A that maintains the structure of a cell’s nucleus. But in Progeria, this single genetic mutation leads to the production of an abnormal protein called progerin. As progerin accumulates, it weakens cells over time, particularly those in the heart and blood vessels. As it builds up, progerin causes tissues to age faster than normal.
We played a central role in identifying the genetic cause of Progeria, a discovery that transformed the field and made drug development possible.
Classic Progeria (HGPS)
- Caused by a very specific mutation in the LMNA gene
- Symptoms appear within the first 1–2 years of life
- Rapid cardiovascular progression
- Consistent pattern across children
- The form targeted by most current research and clinical trials
Non-Classic Progeria (non-HGPS)
- Caused by different or less common mutations in the LMNA gene
- Symptoms often appear later in childhood
- Slower, more variable disease progression
- Physical features can differ widely
- Care and research approaches are more individualized
As children grow, they develop accelerated atherosclerosis – the same arterial hardening that typically affects people in their 60s or older, but occurring far earlier and progressing rapidly. Those with Progeria reach an average maximum height of 125 cm (49 inches) and 25 kg (55 pounds). Despite differing ethnic backgrounds, children and young adults with Progeria share a remarkably similar appearance.
Progeria can be diagnosed through a simple genetic blood test that identifies the specific LMNA mutation responsible for the disease. We established a diagnostic testing program to help families and clinicians around the world confirm a diagnosis accurately and early. Genetic testing is also available at some genetic diagnostics facilities, and genetic counseling is always advised alongside testing.
Early diagnosis allows families to access appropriate medical care, monitoring, and support as soon as possible.
The most serious complications involve the heart and blood vessels. Those with Progeria develop premature, progressive heart disease decades ahead of when it typically occurs. Common complications include:
- Hardening and narrowing of blood vessels
- High blood pressure and heart enlargement
- Chest pain (angina)
- Heart attack or stroke
These cardiovascular changes are the primary cause of shortened lifespan in Progeria.
Those with Progeria typically live into their teens or early twenties, though outcomes continue to improve as research advances and treatments evolve. Every scientific breakthrough, clinical trial, and improvement in care is helping children with Progeria live longer, healthier lives than ever before.
In 2020, the FDA approved lonafarnib (Zokinvy), the first ever treatment for Progeria, and the culmination of 13 years of clinical research across four PRF-funded trials involving 96 children from 37 countries. The European Medicines Agency followed in 2022, and Japan’s health authority approved it in 2024. Long-term use of lonafarnib has been shown to extend average lifespan by 30%, or 4.5 years. We continue to advance new therapies, including gene-based approaches, aimed at addressing the disease at its root cause.
Click here to download a copy of the Progeria Clinical Care Handbook.
Progeria is not inherited. Instead, it is a spontaneous ("sporadic") genetic mutation that arises by chance, not from a parent carrier. It occurs equally across all races and sexes, with no geographic pattern.
For parents who have never had a child with Progeria, the probability is roughly 1 in 4–8 million. However, for parents who have already had one affected child, the recurrence risk rises to approximately 2–3 per 100, due to a phenomenon called mosaicism, which is where a parent carries the mutation in a small fraction of their cells without having the disease themselves. Prenatal testing is available for families in this situation.
Progeria is rare. But what it teaches us is not. Because the disease compresses decades of biological aging into just a few years, it offers scientists a unique window into the mechanisms that drive aging in all of us, and into the cardiovascular disease that remains the leading cause of death worldwide.
The progerin protein, the root cause of Progeria, is not exclusive to children with the disease. It accumulates in all of us, in the cells lining our hearts and blood vessels, at a rate of roughly 3% per year.
Progeria is an accelerated model of a process unfolding in every human body. As progerin builds up over a lifetime, it may contribute to the very cardiovascular changes associated with aging. Understanding how to block or clear progerin in children and young adults with Progeria could point the way toward treating the cardiovascular conditions that affect millions of aging adults.
