Observing the natural history of children with type II collagen disorders and short stature
An International Prospective Natural History Study in Children With a Type II Collagen Disorder With Short Stature
This study is trying to learn more about how type II collagen disorders affect children over time to help improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 60 (estimated) |
| Ages | N/A to 12 Years |
| Sex | All |
| Sponsor | Innoskel Industry-sponsored |
| Locations | 2 sites (Paris and 1 other locations) |
| Trial ID | NCT05408715 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect data on the natural history of type II collagen disorders in children, focusing on conditions such as SEDC and Kniest Dysplasia. Over a period of up to three years, up to 60 participants will undergo clinical, imaging, and laboratory assessments every three months for the first year and then every six months. The goal is to understand disease progression, symptom development, and potential risk factors, ultimately creating a natural history dataset that can inform future clinical trials. This study will help identify efficacy endpoints and biomarkers for these disorders.
Who should consider this trial
Good fit: Ideal candidates are children diagnosed with a type II collagen disorder and short stature, aged up to 12 years.
Not a fit: Patients who have reached Tanner stage 3 or higher may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the progression of type II collagen disorders, leading to improved treatment strategies for affected children.
How similar studies have performed: While there is limited data on type II collagen disorders, similar observational studies have successfully contributed to understanding other rare diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Confirmed diagnosis of type II collagen disorder with short stature at birth (2 standard deviations (SD) or more below the mean) i.e., Hypochondrogenesis, Kniest, Spondyloepiphyseal dysplasia congenita (SEDc) Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloperipheral dysplasia (SED). * Children up to and including 12 years of age, up to the day before their 13th birthday, on the date of consent/assent. * The patient is sufficiently able, in the opinion of the Investigator, to adhere to the study visit schedule and other protocol requirements. * The patient's parent(s) or legal guardian(s) has signed written informed consent, according to the local regulations and after all relevant aspects of the study have been explained and discussed. * The child (depending on local institutional review board/ethical committee requirements) has provided assent. Exclusion Criteria: * Tanner stage 3 or more based on investigator assessment during physical examination * The patient has a diagnosis of any short stature condition other than a type II collagen disorder. * The investigator and/or clinical study advisory committee considers the patient has a type II collagen disorder which is not Hypochondrogenesis, SEDc, Kniest, SEMD or SED i.e., Stickler. * The patient has any other 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, autonomic neuropathy or inflammatory bowel disease. * Treatment in the previous 12 months prior to consent/assent with growth hormones, insulin-like growth factor 1, anabolic steroids, or any other drug expected to affect growth velocity. Brief (up to a few weeks) use of steroids is permitted. * Participation in any interventional clinical trial or treatment for a type II collagenopathy. * Has any condition or circumstance 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.
Where this trial is running
Paris and 1 other locations
- Hopital Necker-Enfants Malades — Paris, France (Recruiting)
- Hospital Universitario La Paz — Madrid, Spain (Recruiting)
Study contacts
- Principal investigator: Andrea Superti-Furga — Centre hospitalier universitaire vaudois, Lausanne
- Study coordinator: Samantha Parker
- Email: samantha.parker@innoskel.com
- Phone: +33 (0)4 92 95 29 71
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.