ROCKET
Research type
Research Study
Full title
An international prospective natural history study in children with a type II collagen disorder with short stature\n
IRAS ID
312911
Contact name
Melita Irving
Contact email
Sponsor organisation
Innoskel
Clinicaltrials.gov Identifier
Duration of Study in the UK
4 years, 2 months, 31 days
Research summary
This is an international, multi-center, retrospective and prospective, descriptive cohort study to detail the natural course of type II collagen disorders with short stature via standardized anthropometric, clinical, biomarkers of bone growth and imaging measures. No study drug will be administered, and no other type of therapy will be provided. Patient’s information will be collected at 3–6-month intervals, for a maximum of 3 years.\nType II collagenopathy is caused by a mutation in the COL2A1 gene. This mutation results in a diverse group of clinical manifestations with a spectrum of severity ranging from severe perinatal lethal disorders to milder conditions presenting in adolescence or adulthood, with premature arthrosis as the primary feature. Hypochondrogenesis, Spondyloepiphyseal dysplasia congenita (SEDC), Kniest, SEMD/Strudwick and SED all present with short or very short stature and will be included in this natural history study. \nThere are relatively few data available on type II collagenopathies, and evidence is lacking on the disease course in relation to symptoms and development of complications, the level of actual disease burden over time as well as data to support identification of the possible risk factors. The rationale of this study is to collect information about important type II collagenopathy-related symptoms, tests and treatments which will help design and conduct future clinical trials that will benefit from a better understanding of the natural history of the disease course in younger individuals, where final skeletal and morphological proportions are being established prior to entering the final longitudinal growth phase during later stages of childhood and adolescence.\nBiomarkers such as soluble markers from peripheral blood are important as a potential real-time correlates of bone metabolism and in particular, growth plate activity. Such biomarkers are important for future clinical trials to measure biological activity of an investigational drug for preventive treatment.\n
REC name
South West - Central Bristol Research Ethics Committee
REC reference
22/SW/0103
Date of REC Opinion
1 Sep 2022
REC opinion
Further Information Favourable Opinion