Overview
Hutchinson-Gilford progeria syndrome (HGPS), also known simply as progeria, is an extremely rare and fatal genetic disorder characterized by dramatically accelerated aging beginning in early childhood. It is caused by a de novo point mutation in the LMNA gene (most commonly c.1824C>T, p.G608G), which produces an abnormal form of the lamin A protein called progerin. This toxic protein disrupts the nuclear envelope structure of cells throughout the body, leading to progressive cellular damage and premature aging of multiple organ systems. Children with HGPS typically appear normal at birth but begin to show characteristic features within the first one to two years of life. Key clinical features include severe growth retardation, loss of subcutaneous fat and hair (alopecia), aged-looking skin with sclerodermatous changes, prominent scalp veins, a distinctive craniofacial appearance with a small face relative to the head (micrognathia, prominent eyes, beaked nose), joint stiffness and contractures, skeletal abnormalities including clavicular resorption and coxa valga, and progressive cardiovascular disease. Importantly, cognitive development remains normal. The cardiovascular system is the most critically affected, with children developing severe and progressive atherosclerosis, leading to myocardial infarction or stroke, which is the most common cause of death. The average lifespan is approximately 14.6 years. The treatment landscape for HGPS has evolved significantly. In 2020, lonafarnib (Zokinvy), a farnesyltransferase inhibitor, became the first FDA-approved treatment for the condition. Lonafarnib works by preventing the accumulation of progerin at the nuclear membrane and has been shown to extend lifespan by an average of approximately 2.5 years. Supportive care includes management of cardiovascular complications, physical and occupational therapy for joint stiffness, nutritional support, and dental care. Research into additional therapies, including gene editing approaches, is ongoing.
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
3 eventsJules Bordet Institute
PRG Science & Technology Co., Ltd. — PHASE2
in patients 12 months of age and older with a body surface area (BSA) of 0.39 m2 and above (1) to reduce the risk of mortality in Hutchinson-Gilford Progeria Syndrome (HGPS); and (2) for the treatment of processing-deficient Progeroid Laminopathies with either heterozygous LMNA mutation with progerin-like protein accumulation or homozygous or compound heterozygous ZMPSTE24 mutations
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableZokinvy
in patients 12 months of age and older with a body surface area (BSA) of 0.39 m2 and above (1) to reduce the risk of mortality in Hutchinson-Gilford Progeria Syndrome (HGPS); and (2) for the treatment…
in patients 12 months of age and older with a body surface area (BSA) of 0.39 m2 and above (1) to reduce the risk of mortality in Hutchinson-Gilford Progeria Syndrome (HGPS); and (2) for the treatment of processing-deficient Progeroid Laminopathies with either heterozygous LMNA mutation with progerin-like protein accumulation or homozygous or compound heterozygous ZMPSTE24 mutations
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Hutchinson-Gilford progeria syndrome.
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Common questions about Hutchinson-Gilford progeria syndrome
What is Hutchinson-Gilford progeria syndrome?
Hutchinson-Gilford progeria syndrome (HGPS), also known simply as progeria, is an extremely rare and fatal genetic disorder characterized by dramatically accelerated aging beginning in early childhood. It is caused by a de novo point mutation in the LMNA gene (most commonly c.1824C>T, p.G608G), which produces an abnormal form of the lamin A protein called progerin. This toxic protein disrupts the nuclear envelope structure of cells throughout the body, leading to progressive cellular damage and premature aging of multiple organ systems. Children with HGPS typically appear normal at birth but
How is Hutchinson-Gilford progeria syndrome inherited?
Hutchinson-Gilford progeria syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hutchinson-Gilford progeria syndrome typically begin?
Typical onset of Hutchinson-Gilford progeria syndrome is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Hutchinson-Gilford progeria syndrome?
Yes — 1 recruiting clinical trial is currently listed for Hutchinson-Gilford progeria syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Hutchinson-Gilford progeria syndrome?
19 specialists and care centers treating Hutchinson-Gilford progeria syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Hutchinson-Gilford progeria syndrome?
1 patient support program are currently tracked on UniteRare for Hutchinson-Gilford progeria syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.