Achondroplasia
Conditions
Interventions
Case series:Nil
Sponsors
Xinhua Hospital affiliated To Shanghai Jiao Tong University School of Medicine
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Subject or legal representative is willing and able to provide informed consent signed in person (and patient's written consent as required locally); 2. Subject is willing and able to follow the research protocol according to the researcher's judgment; 3. Clinical and genetic diagnosis of ACH (confirmed by the investigator); 4. Subject can stand independently (if its over 36 months).
Exclusion criteria
Exclusion criteria: 1. Have History or presence of injury or disease of the growth plate(s), other than ACH, that affects growth potential of long bones; 2. Have forms of skeletal dysplasias other than ACH or medical conditions that result in short stature or abnormal bone growth [such as but not limited to, severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), trisomy 21, hypochondroplasia, spondyloepiphyseal dysplasia congenital [SEDC], Shprintzen-Goldberg Syndrome, growth hormone deficiency, Turner syndrome, pseudoachondroplasia,etc.]; 3. The child ( 1 month) or repeated treatment with oral corticosteroids during the study (low-dose ongoing inhaled steroid for asthma is acceptable); 6. Participat in or have participated in any intervention studies (including investigational products or devices) for the treatment of achondroplasia or short stature; 7. Any other reason that in the opinion of the investigator would prevent the child from complying with the study requirements or continue with the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Height;Sitting height;Head circumference;Chest circumference;Weight;Finger spacing; | — |
Countries
China
Contacts
Public ContactZheng Jiayin
Beijing Society of Rare Disease Clinical Care and Accessibility
Outcome results
None listed