Progeria (HGPS) Clinical Trials and Treatments

Progeria (Hutchinson-Gilford progeria syndrome, HGPS) is an extraordinarily rare autosomal dominant disorder caused by a point mutation (c.1824C>T) in the LMNA gene occurring de novo in almost all cases. The mutation produces a truncated lamin A protein that accumulates within the nuclear envelope, impairing nuclear function and causing cellular dysfunction. Affected children appear normal at birth but within the first year develop signs of rapidly accelerated aging: growth failure despite normal appetite, progressive alopecia with characteristic loss of eyebrows and lashes, distinctive facial features (micrognathia, prominent ears), and development of cardiovascular disease.

The most common symptoms of Progeria include Growth retardation and failure to thrive despite normal appetite, Progressive alopecia (hair loss) and loss of eyebrows, Distinctive facial features: micrognathia, prominent ears, Progressive cardiovascular disease and hypertension, Atherosclerosis and increased stroke risk, among others. Extremely rare; approximately 50-100 living cases worldwide. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Progeria from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Research in progeria has identified farnesyltransferase inhibitors as promising approaches to slow the devastating cardiovascular disease that characterizes this condition. Lonafarnib, studied in major clinical trials, showed meaningful slowing of disease progression when combined with other agents.

Yes. As of October 21, 2026, 1 FDA-approved medicine has a current label that names Progeria: Zokinvy (lonafarnib). Corticosteroids and immune globulins count once each.

Progeria is caused by variants in the LMNA gene. Almost always a new LMNA variant with no family history; classic cases share the same c.1824C>T change.

Most cases arise from a new variant not carried by either parent, so the chance of it recurring in a sibling is low but not zero. Extremely rare; approximately 50-100 living cases worldwide. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Progeria looks at the LMNA gene. Almost always a new LMNA variant with no family history; classic cases share the same c.1824C>T change.

Most cases arise from a new variant not carried by either parent, so the chance of it recurring in a sibling is low but not zero.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Progeria clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Progeria clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.