An International Prospective Natural History Study in Children With a Type II Collagen Disorder With Short Stature

Status: Recruiting
Location: See all (2) locations...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Maximum Age: 12
Healthy Volunteers: f
View:

• 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.

Locations
Other Locations
France
Hopital Necker-Enfants Malades
RECRUITING
Paris
Spain
Hospital Universitario La Paz
RECRUITING
Madrid
Contact Information
Primary
Samantha Parker
samantha.parker@innoskel.com
+33 (0)4 92 95 29 71
Time Frame
Start Date: 2022-06-29
Estimated Completion Date: 2026-12-31
Participants
Target number of participants: 60
Sponsors
Leads: Innoskel

This content was sourced from clinicaltrials.gov

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