Actively Recruiting
A Natural History Study in Children With a Type II Collagen Disorder With Short Stature
Led by Innoskel · Updated on 2023-10-02
60
Participants Needed
2
Research Sites
235 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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 disease burden over time as well as data to support identification of possible risk factors. This study aims to build a natural history data set through collection of a number of clinical, imaging, and laboratory assessments that may be specific predictors of type II collagen disorder progression and clinical outcome. Having a type II collagen disorder natural history data set can inform potential efficacy endpoints and biomarkers for future clinical trials. This natural history study will follow up to 60 individuals diagnosed with a type II collagen disorder for up to 3 years. Visits will be conducted every 3 months for the first year and then every 6 months, during which several assessments will be performed in order to learn about the natural course of the disease, including changes in clinical and functional outcomes, imaging and biofluid biomarkers. Some of the study activities include: a physical exam, height measurements, vision and breathing tests and x-ray. A blood sample will be collected once or twice each year. Most of the information collected, the tests done, and the schedule of visits in this study are the same as recommended for regular care of children with a type II collagen disorder.
CONDITIONS
Official Title
A Natural History Study in Children With a Type II Collagen Disorder With Short Stature
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Confirmed diagnosis of type II collagen disorder with short stature at birth (2 standard deviations or more below the mean), including Hypochondrogenesis, Kniest Dysplasia, Spondyloepiphyseal dysplasia congenita (SEDc), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, or Spondyloperipheral dysplasia (SED)
- Children up to and including 12 years of age on the date of consent or assent
- Ability to follow the study visit schedule and protocol requirements as judged by the investigator
- Parent or legal guardian has signed informed consent
- Child has provided assent if required by local regulations
You will not qualify if you...
- Tanner stage 3 or higher puberty development based on physical exam
- Diagnosis of any short stature condition other than a type II collagen disorder
- Type II collagen disorder diagnosis other than Hypochondrogenesis, SEDc, Kniest, SEMD, or SED (e.g., Stickler syndrome)
- Other medical conditions affecting growth or treated with growth-impacting therapies such as hypothyroidism, hyperthyroidism, insulin-dependent diabetes, autoimmune inflammatory disease, autonomic neuropathy, or inflammatory bowel disease
- Treatment within the past 12 months with growth hormones, insulin-like growth factor 1, anabolic steroids, or other drugs expected to affect growth velocity (brief steroid use allowed)
- Participation in any interventional clinical trial or treatment for a type II collagenopathy
- Any condition or circumstance that may cause poor compliance with the study schedule or risk not completing the study
AI-Screening
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Trial Site Locations
Total: 2 locations
1
Hopital Necker-Enfants Malades
Paris, France, 75015
Actively Recruiting
2
Hospital Universitario La Paz
Madrid, Spain
Actively Recruiting
Research Team
S
Samantha Parker
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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