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

NCT05408715 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 60

Last updated 2023-10-02

No results posted yet for this study

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 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

  • SEDC
  • Hypochondrogenesis
  • Semd, Strudwick Type
  • Kniest Dysplasia

Interventions

OTHER

Natural History Study

Longitudinal assessment of symptoms and development of complications in type II collagen disorders

Sponsors & Collaborators

  • Innoskel

    lead INDUSTRY

Principal Investigators

  • Andrea Superti-Furga · Centre hospitalier universitaire vaudois, Lausanne

Eligibility

Max Age
12 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-06-29
Primary Completion
2026-12-31
Completion
2026-12-31

Countries

  • France
  • Spain

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05408715 on ClinicalTrials.gov