Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia.

 Achondroplasia / Posted 2 years ago

This is a registry study in children with achondroplasia, age 0-10 years, to be conducted at multiple clinical centers in several countries. Information collected will include in anthropometric characteristics, related symptoms, tests, & treatments

Children’s information will be collected in the registry for a maximum of 5 years.

  • 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 10 years of age, inclusive, 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, systemic lupus erythematosus [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
  • Study end date : 15/06/2023
  • Wales-Based Study Contact : Please speak to your clinician
Contact details

University Hospitals Bristol NHS Foundation Trust Recruiting Bristol, United Kingdom, BS2 8BJ Guy's & St Thomas NHS Trust, St Thomas' Hospital London, United Kingdom, SE1 7EH Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne, United Kingdom Sheffield Children's NHS Foundation Trust Sheffield, United Kingdom ClinicalTrials.gov_Inquiries@pfizer.com

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