GlobalResearch and clinical trials
Life expectancy data in progeria and similar diseases brought together
Researchers from Spain reviewed 169 publications on progeria and similar diseases.
Peer-reviewed publicationProgeria
Genetic syndromes and other conditions
Hutchinson-Gilford progeria syndrome (progeria)
A genetic disease that causes the appearance of rapid aging in childhood. Growth slows and hair falls out. Intelligence is not affected.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Genetic syndromes and other conditions” group.
Understanding the disease
This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.
What happens in this disease?
A change in a gene called LMNA leads to a faulty protein being made. This protein weakens the envelope of the cell nucleus. The cells wear out early. Signs of early aging and hardening of the arteries develop in the child.
Which symptoms can occur?
Babies look healthy at birth. Symptoms usually begin in the first two years.
- Slow growth and not gaining weight
- Hair loss
- Thin, aged-looking skin and loss of fat under the skin
- Prominent eyes, a thin nose, a small jaw
- Joint stiffness and hip dislocation
- Hardening of the arteries; a risk of heart attack and stroke
- Intelligence and skills such as sitting and walking are not affected
How is it diagnosed?
The doctor suspects the disease from the typical signs. The diagnosis is confirmed with a genetic test that looks at the LMNA gene. An early diagnosis allows care to start early.
Treatment and care
There is an approved treatment specifically for the disease. This treatment was approved in the US in 2020 and in Europe in 2022. It brings improvement in some areas, such as blood vessel health; it does not cure the disease completely. Supportive care is given for the problems that arise. Research on new treatments such as gene correction is ongoing. The doctor who follows the disease decides which treatment is suitable.
For the family: inheritance and genetic counselling
The disease is caused by a dominant gene change. This change almost always appears for the first time in the child. This means it usually does not come from the parents. There has usually been no one affected in the family before. Genetic counselling guides the family about future pregnancies.
Source: MedlinePlus Genetics: Hutchinson-Gilford progeria syndrome · Progeria Research Foundation: About progeria · Progeria Research Foundation: Quick facts · EMA: Zokinvy (EPAR)
Key facts
- How common is it?
- Prevalence: <1 per 1 000 000 (Worldwide)
- How is it inherited?
- Autosomal dominant · Autosomal recessive
- When does it usually start?
- Infancy, Newborn period
- Gene(s) involved
- ZMPSTE24, LMNA
- Reliable sources
- MedlinePlus (for families) · Orphanet
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
You are not alone: patient associations in Türkiye
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Support and help
- In an emergency in Türkiye, call 112.
- For psychological and social support, the ALO 183 Social Support Line (24/7, free from within Türkiye): alo183.aile.gov.tr
- For carers: Looking after yourself as a caregiver
- Preparing for a doctor visit · Collect your questions and symptom notes on one page, then print it and take it with you.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
News about Progeria
Clinical trials (ClinicalTrials.gov)
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.
Questions you can ask your doctor
- Could this trial be suitable for us?
- If we take part, how would current treatment and check-ups be affected?
- Where does the trial take place, and how are travel and accommodation handled?
- What happens if we want to leave the trial?
ClinicalTrials.gov lists 1 active interventional study for this disease. None is recruiting right now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
- Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria
Middle stage: the effect is being tested in a small group · Phase 1 / Phase 2 · investigational (experimental)Enrolling by invitationNCT02579044
See all studies on ClinicalTrials.gov · Joining clinical trials
Genetic syndromes and other conditions: other news
TürkiyeResearch and clinical trials
Brain MRI findings in more than half of children with Noonan syndrome in Ankara
Ankara University reviewed the brain MRIs of children with Noonan syndrome.
Peer-reviewed publicationNoonan
TürkiyeResearch and clinical trials
Sotos syndrome study from 14 centers in Türkiye: 48 children studied
In Türkiye, 14 centers jointly studied children with Sotos syndrome and the similar Malan syndrome.
Peer-reviewed publicationSotos
FranceResearch and clinical trials
In Noonan syndrome, the cholesterol drug simvastatin did not benefit growth in a phase 3 trial
In France, simvastatin was compared with placebo in children with Noonan syndrome.
Peer-reviewed publicationNoonan
Medical codes (for talking with your doctor and finding sources)
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:740
No separate ICD-11 code; WHO classifies this disease under: LD2B
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.