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

September 29, 2023 updated by: Innoskel

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

60

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 12 years (Child)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Infants and children with a type II collagen disorder with short stature from birth to 12 years of age.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Collection of relevant medical data (retrospective and prospective)
Time Frame: Up to 3 years
Collection of demographic data, collagen type II-related medical complications, past medical and surgical history and current medication.
Up to 3 years
Anthropometric measurements
Time Frame: Up to 3 years
Collection of consistent growth measurements (in centimeters).
Up to 3 years
Change over time in motor function in children 2 years old and younger
Time Frame: Up to 2 years
Motor development will be assessed using the World Health Organisation (WHO) Motor Milestones.
Up to 2 years
Change over time in motor function in children >2 years old
Time Frame: Up to 3 years
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.
Up to 3 years
Change over time in pulmonary function
Time Frame: Up to 3 years
Lung function measured through spirometry in all participants >4 years of age
Up to 3 years
Change over time in ophthalmological assessment
Time Frame: Up to 3 years
Standard ophthalmological assessment.
Up to 3 years
Change over time in skeletal abnormalities
Time Frame: Up to 3 years
Investigators should collect radiographs according standard of care to determine change in skeletal abnormalities and bone growth.
Up to 3 years
Measurement of biomarkers for bone growth
Time Frame: Up to 3 years
Changes from baseline in serum collagen X fragments.
Up to 3 years
Measurement of CNP/ProCNP
Time Frame: Up to 3 years
Changes from baseline in serum CNP/ProCNP
Up to 3 years
Measurement of bone-specific alkaline phosphatase (BALP)
Time Frame: Up to 3 years
Changes from baseline in serum BALP
Up to 3 years
Change in scores for the pediatric quality of life inventory parent report (PedsQL)
Time Frame: Up to 3 years
The PedsQL parent-proxy report has 23 items that investigate physical, emotional, and social QoL as well as school functioning.
Up to 3 years
Change in PROMIS pediatric short form pain behaviors score
Time Frame: Up to 3 years
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.
Up to 3 years
Change in fatigue
Time Frame: Up to 3 years
The PROMIS pediatric fatigue parent-proxy report is completed by parents to assess their child's ability to carry out daily activities.
Up to 3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Innoskel

Investigators

  • Principal Investigator: Andrea Superti-Furga, Centre hospitalier universitaire vaudois, Lausanne

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 29, 2022

Primary Completion (Estimated)

December 31, 2026

Study Completion (Estimated)

December 31, 2026

Study Registration Dates

First Submitted

May 13, 2022

First Submitted That Met QC Criteria

June 3, 2022

First Posted (Actual)

June 7, 2022

Study Record Updates

Last Update Posted (Actual)

October 2, 2023

Last Update Submitted That Met QC Criteria

September 29, 2023

Last Verified

September 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • COL221-101

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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