An observational study in SEDC, Hypochondrogenesis and Semd, Strudwick Type, sponsored by Innoskel. Recruiting at 2 sites in 2 countries. Open to participants aged Up to 12 Years. Per ClinicalTrials.gov, last updated 2023-10-02.
Sponsored by Innoskel · Observational
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.
101 studies on the registry are indexed under Mucopolysaccharidosis IV; 27 are open to participants now.
This study's planned enrollment of 60 is below the median of 100 across 41 observational studies indexed under Mucopolysaccharidosis IV.
Browse Mucopolysaccharidosis IV studies →This is the only study on the registry with Innoskel as lead sponsor.
Counted across the registry records on this site, refreshed daily.
Infants and children with a type II collagen disorder with short stature from birth to 12 years of age.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Autoimmune disease
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Longitudinal assessment of symptoms and development of complications in type II collagen disorders
Collection of relevant medical data (retrospective and prospective)
Collection of demographic data, collagen type II-related medical complications, past medical and surgical history and current medication.
Time frame: Up to 3 years
Anthropometric measurements
Collection of consistent growth measurements (in centimeters).
Time frame: Up to 3 years
Change over time in motor function in children 2 years old and younger
Motor development will be assessed using the World Health Organisation (WHO) Motor Milestones.
Time frame: Up to 2 years
Change over time in motor function in children >2 years old
Timed 100-meter walk/run test (T100T). In the T100T, the participant is instructed to walk as fast as possible for a distance of 100 meters. Timed 10-meter walk/run test (T10T). Participants walk 10-meters at self-selected pace. Functional Mobility Scale (FMS) rates the walking ability in three different walking distances.
Time frame: Up to 3 years
Change over time in pulmonary function
Lung function measured through spirometry in all participants \>4 years of age
Time frame: Up to 3 years
Change over time in ophthalmological assessment
Standard ophthalmological assessment.
Time frame: Up to 3 years
Change over time in skeletal abnormalities
Investigators should collect radiographs according standard of care to determine change in skeletal abnormalities and bone growth.
Time frame: Up to 3 years
Measurement of biomarkers for bone growth
Changes from baseline in serum collagen X fragments.
Time frame: Up to 3 years
Measurement of CNP/ProCNP
Changes from baseline in serum CNP/ProCNP
Time frame: Up to 3 years
Measurement of bone-specific alkaline phosphatase (BALP)
Changes from baseline in serum BALP
Time frame: Up to 3 years
Change in scores for the pediatric quality of life inventory parent report (PedsQL)
The PedsQL parent-proxy report has 23 items that investigate physical, emotional, and social QoL as well as school functioning.
Time frame: Up to 3 years
Change in PROMIS pediatric short form pain behaviors score
The PROMIS pediatric short form pain behaviors, parent-proxy report is an 8-item measure completed by parents that assesses pain behaviors displayed by their child in the past 7 days. Total scores are standardized to a T-score with a mean of 50 and a standard deviation of 10, where higher scores indicate increased behaviors due to pain.
Time frame: Up to 3 years
Change in fatigue
The PROMIS pediatric fatigue parent-proxy report is completed by parents to assess their child's ability to carry out daily activities.
Time frame: Up to 3 years
Plan to share: Undecided
Started Jun 2022 (actual). Primary completion is estimated for Dec 2026, 54 months after the start.
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