Hutchinson-Gilford Progeria Syndrome and Progeroid Laminopathies
Conditions
Interventions
Experimental group:Treatment with Lonafarnib
Sponsors
The Children's Hospital Zhejiang University School of Medicine
Eligibility
Sex/Gender
All
Age
1 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Aged over 12 months; 2. Classic or non-classical early ageing syndrome (HGPS) or treatment-deficient progeria-like laminopathy confirmed by genetic diagnosis (homozygous or compound heterozygous ZMPSTE24 mutation, LMNA heterozygous mutation with accumulation of presenilin-like protein); 3. The alanine aminotransferase (ALT) and aspartate aminotransferase (AST) of the patient are less than 5 times the upper limit of the normal range for the age; 4. Before entering the study, an informed consent form/consent form signed by parents or guardians must be obtained; 5. Patients of puberty and childbearing age should complete a pregnancy test before taking the drug.
Exclusion criteria
Exclusion criteria: 1. Patients must be taking drugs or foods that are known to be moderate or strong CYP3A4 inducers or inhibitors or sensitive CYP3A substrates; 2. The patient is taking digoxin (digoxin is a P-gp substrate with a narrow therapeutic window); 3. Patients with uncontrollable infections; 4. Patients who are known to be allergic to Lonafarnib or any component of the drug; 5. The investigator judges that the patient's condition is not suitable for participating in this clinical study; 6. The patient is breastfeeding or planning to become pregnant while receiving Lonafarnib treatment.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Weight improvement rate; | — |
Secondary
| Measure | Time frame |
|---|---|
| Adverse event rates and their severity;Physical development;Nutritional status;Changes in the cardiovascular system, nervous system, respiratory system, and endocrine system;Skin and hair condition;Maxillofacial condition;Hearing and eye improvement; | — |
Countries
China
Contacts
Public ContactMao Jianhua
The Children's Hospital Zhejiang University School of Medicine
Outcome results
None listed