Actively Recruiting

Age: 0 - 12Years
All Genders
ID05408715

An International Prospective 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

N/A

Total Duration

On this page

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

Eligible

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
Not Eligible

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

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Long-term Monitoring

Duration - Up to 3 years

Participants are observed over time to assess symptoms, development of complications, and changes in motor, pulmonary, ophthalmological, and skeletal functions.

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

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Research Team

S

Samantha Parker

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

Frequently Asked Questions

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Published Research Related To This Trial

Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.

Nitasha Dhiman, Alia Albaghdadi, Cheryl K Zogg...

https://pubmed.ncbi.nlm.nih.gov/27866314