Status:
RECRUITING
A Natural History Study in Children With a Type II Collagen Disorder With Short Stature
Lead Sponsor:
Innoskel
Conditions:
SEDC
Hypochondrogenesis
Eligibility:
All Genders
Up to 12 years
Brief Summary
There are relatively few data available on type II collagen disorders, and evidence is lacking on the disease course in relation to symptoms and development of complications, the level of actual disea...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
June 29 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2026
Estimated Enrollment :
60 Patients enrolled
Trial Details
Trial ID
NCT05408715
Start Date
June 29 2022
End Date
December 31 2026
Last Update
October 2 2023
Active Locations (2)
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1
Hopital Necker-Enfants Malades
Paris, France, 75015
2
Hospital Universitario La Paz
Madrid, Spain