Clinical Research Directory

Browse clinical research sites, groups, and studies.

Sites Groups Studies

Back to Studies

RECRUITING

NCT05408715

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

Sponsor: Innoskel

View on ClinicalTrials.gov

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.

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

Key Details

Gender

All

Age Range

Any - 12 Years

Study Type

OBSERVATIONAL

Enrollment

Start Date

2022-06-29

Completion Date

2026-12-31

Last Updated

2023-10-02

Healthy Volunteers

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

Inclusion Criteria: * 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. Exclusion Criteria: * Tanner stage 3 or more based on investigator assessment during physical examination * The patient has a diagnosis of any short stature condition other than a type II collagen disorder. * The investigator and/or clinical study advisory committee considers the patient has a type II collagen disorder which is not Hypochondrogenesis, SEDc, Kniest, SEMD or SED i.e., Stickler. * The patient has any other medical condition that may impact growth or where the treatment is known to impact growth, such as but not limited to hypothyroidism or hyperthyroidism, insulin-requiring diabetes mellitus, autoimmune inflammatory disease, autonomic neuropathy or inflammatory bowel disease. * Treatment in the previous 12 months prior to consent/assent with growth hormones, insulin-like growth factor 1, anabolic steroids, or any other drug expected to affect growth velocity. Brief (up to a few weeks) use of steroids is permitted. * Participation in any interventional clinical trial or treatment for a type II collagenopathy. * Has any condition or circumstance that in the view of the investigator places the child at high risk of poor compliance with the visit schedule or of not completing the study.

Locations (2)

Hopital Necker-Enfants Malades

Paris, France

Hospital Universitario La Paz

Madrid, Spain