Principal Investigator: Lorenzo  Botto
Keywords: Anchodroplasia Department: Pediatric Administration
IRB Number: 00115548
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Recruiting

Contact Information

Jenny Billy

Brief Summary

Study Purpose:  This is a registry study in children with achondroplasia, age 0-10 years, to be conducted at multiple clinical centers in several countries. Children’s information will be collected in the registry at baseline and at every 3-month interval visits, for a maximum of 5 years. 


To investigate the natural history of children with achondroplasia in terms of:
• Anthropometric characteristics
• Achondroplasia-related symptoms, tests, and treatments
• Biomarkers of bone growth

Inclusion Criteria

1. Written informed consent is obtained from the children’s parent(s) / legal guardian(s) before any study-related activity is carried out
2. The child is able to provide written informed assent, where this is required according to national legislation before any study-related activity is carried out
3. The child has been diagnosed as having achondroplasia documented by clinical diagnosis
4. The child is between 0 years and 15 years of age, up to day before 15th birthday, on the date of consent/assent 
5. The investigator has considered the family and prospective participating child being able to comply with the study procedures

Exclusion Criteria

1. The child has a diagnosis of hypochondroplasia or any short stature condition other than achondroplasia (eg, spondyloepiphyseal dysplasia congenital [SEDC], pseudoachondroplasia, trisomy 21)
2. The child has any medical condition that may impact growth or where the treatment is known to impact growth, such as but not limited to hypothyroidism or hyperthyroidism, insulin-requiring diabetes mellitus, autoimmune inflammatory disease (including celiac disease, lupus [SLE], juvenile dermatomyositis, scleroderma, and others), autonomic neuropathy, or inflammatory bowel disease
3. Treatment in the previous 12 months prior to consent and assent with growth hormone, insulin-like growth factor 1 (IGF-1), anabolic steroids, or any other drug expected to affect growth velocity
4. Any surgery that affects the growth plate of the long bones that is planned, or has occurred in the past 18 months
5. Participation in any interventional study (investigational product or device) for treatment of achondroplasia or short stature
6. Has had bone-related surgery impacting assessment of anthropometric measurements or is expected to have it during the study period. Children with previous limb-lengthening surgery may enroll if surgery occurred at least 18 months prior to the date of consent/assent and healing is complete without sequelae as determined by the investigator
7. Has any condition that in the view of the investigator places the child at high risk of poor compliance with the visit schedule or of not completing the study. 
8. Any concurrent disease or condition that in the view of the investigator would interfere with study participation