What is this study trying to find out about type II collagen disorders in children?

This study aims to learn how type II collagen disorders with short stature develop and progress over time in children. Researchers will collect detailed clinical and laboratory data to understand disease symptoms, complications, and risk factors. This information may help design future clinical trials and improve care for affected children.

Who may be eligible for this type II collagen disorder clinical trial?

Children up to 12 years old with a confirmed diagnosis of a type II collagen disorder causing short stature are eligible. The study is open to all genders. Participants should be able to follow the study's visit schedule and have not received certain growth treatments recently. Please review eligibility criteria for more details.

Is there any cost to participate in this type II collagen disorder clinical trial?

Study-related care, including all tests and visits, is provided at no cost. However, personal travel and other expenses may vary and are not guaranteed to be covered. Participants and their families should consider these potential costs.

Actively Recruiting

Age: 0 - 12Years

All Genders

ID05408715

International Observational Study Tracking Natural Progression of Type II Collagen Disorders in Children With Short Stature Up to Age 12

Led by Innoskel · Updated on 2023-10-02

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Researchers are studying children with type II collagen disorders who have short stature to better understand how these conditions progress over time. This observational natural history study aims to gather clinical, imaging, and laboratory data to identify possible predictors of disease progression and outcomes. The study will help provide important information that could guide future clinical trials on treatments for these disorders. The study will follow up to 60 children diagnosed with a type II collagen disorder for up to 3 years. During this time, participants will have visits every 3 months in the first year and then every 6 months thereafter. Assessments include physical exams, height measurements, vision and breathing tests, x-rays, and blood samples collected once or twice a year. The study activities closely follow the recommended care for children with these disorders. Participants will undergo regular evaluations to track changes in motor function, pulmonary health, eye assessments, skeletal abnormalities, and bone growth biomarkers. Questionnaires will assess quality of life, pain, and fatigue over time. Researchers will collect data retrospectively and prospectively for up to 3 years to understand the natural course and burden of the disease. This comprehensive monitoring will support safety and outcome assessments throughout the study.

CONDITIONS

Brief Title

A Natural History Study in Children With a Type II Collagen Disorder With Short Stature

Who Can Participate

Age: 0 - 12Years

All Genders

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, Spondyloepiphyseal dysplasia congenita (SEDc), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, or Spondyloperipheral dysplasia (SED)
Children up to and including 12 years old on the date of consent or assent
Ability to follow the study visit schedule and protocol requirements as judged by the investigator
Written informed consent signed by parent(s) or legal guardian(s)
Assent provided by the child when required by local regulations

You will not qualify if you...

Tanner stage 3 or higher based on physical examination
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 impacting growth or treated conditions known to affect growth, such as hypothyroidism, hyperthyroidism, insulin-requiring diabetes, autoimmune inflammatory disease, autonomic neuropathy, or inflammatory bowel disease
Treatment within 12 months before consent with growth hormones, insulin-like growth factor 1, anabolic steroids, or other drugs affecting growth velocity (brief steroid use allowed)
Participation in any interventional trial or treatment for type II collagenopathy
Conditions or circumstances posing high risk for poor compliance or study completion as judged by investigator

Research Team

Samantha Parker

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International Observational Study Tracking Natural Progression of Type II Collagen Disorders in Children With Short Stature Up to Age 12

On this page

AI-Summary

What this Trial Is About

Brief Title

Who Can Participate

Eligibility Criteria

Research Team

Not the Right Trial for You?

On this page

Who Can Participate

Eligibility Criteria