SEDCROCKETNCT05408715
A Natural History Study in Children With a Type II Collagen Disorder With Short Stature
An observational study of SEDC and Hypochondrogenesis, run by Innoskel at 2 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 12 years
- Conditions the study is for
- SEDC, Hypochondrogenesis, Semd, Strudwick Type
- What is being tested?
- Natural History Study
- How many people
- 60 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 29 Jun 2022to 31 Dec 2026
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 12 years
- All sexes
- No healthy volunteers
- Child
Study population: Infants and children with a type II collagen disorder with short stature from birth to 12 years of age.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
2 sites in 2 countries
France1 site, 1 recruiting
- Recruiting
Hopital Necker-Enfants Malades
Paris, 75015
Valerie Cormier-Daire, MD
Mathilde Doyard, mathilde.doyard@aphp.fr
Spain1 site, 1 recruiting
- Recruiting
Hospital Universitario La Paz
Madrid
Maria Saleco Montejo, MD, msalcedomontejo@gmail.com
Karen Heath, kheath71@yahoo.com
About this study
Official title: 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.
Read more
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
- Being tested
- Natural History Study
- Keywords
- Skeletal Dysplasia, Short Stature, Bone Disease
- Medical subject headings
- Hypochondrogenesis, Strudwick syndrome, Kniest dysplasia, Mucopolysaccharidosis IV, Dwarfism, Bone Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Natural History StudyOther
Longitudinal assessment of symptoms and development of complications in type II collagen disorders
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Up to 3 years
Anthropometric measurements
Collection of consistent growth measurements (in centimeters).
Measured: 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.
Measured: 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.
Measured: Up to 3 years
Change over time in pulmonary function
Lung function measured through spirometry in all participants >4 years of age
Measured: Up to 3 years
Change over time in ophthalmological assessment
Standard ophthalmological assessment.
Measured: 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.
Measured: Up to 3 years
Measurement of biomarkers for bone growth
Changes from baseline in serum collagen X fragments.
Measured: Up to 3 years
Measurement of CNP/ProCNP
Changes from baseline in serum CNP/ProCNP
Measured: Up to 3 years
Measurement of bone-specific alkaline phosphatase (BALP)
Changes from baseline in serum BALP
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Up to 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jun 2022
- Study start29 Jun 2022
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for SEDCStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Innoskel
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Andrea Superti-Furga, Principal investigator, Centre hospitalier universitaire vaudois, Lausanne
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05408715
- Sponsor's protocol ID
- COL221-101
- Acronym
- ROCKET
- Status last verified
- Sep 2023
- First submitted
- 13 May 2022
- Last updated
- 2 Oct 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium. Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genet Med. 2019 Sep;21(9):2070-2080. doi: 10.1038/s41436-019-0446-9. Epub 2019 Jan 30.
PubMed 30696995Oh CW, Thacker MM, Mackenzie WG, Riddle EC. Coxa vara: a novel measurement technique in skeletal dysplasias. Clin Orthop Relat Res. 2006 Jun;447:125-31. doi: 10.1097/01.blo.0000203476.81302.24.
PubMed 16505708Dhiman N, Albaghdadi A, Zogg CK, Sharma M, Hoover-Fong JE, Ain MC, Haider AH. Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. Qual Life Res. 2017 May;26(5):1337-1348. doi: 10.1007/s11136-016-1455-7. Epub 2016 Nov 19.
PubMed 27866314Graham HK, Harvey A, Rodda J, Nattrass GR, Pirpiris M. The Functional Mobility Scale (FMS). J Pediatr Orthop. 2004 Sep-Oct;24(5):514-20. doi: 10.1097/00004694-200409000-00011.
PubMed 15308901
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An International Prospective Natural History Study in Children With a Type II Collagen Disorder With Short Stature
- ClinicalTrials.gov ID
- NCT05408715
- Acronym / sponsor ID
- ROCKET / COL221-101
- Conditions
- SEDC, Hypochondrogenesis, Semd, Strudwick Type, Kniest Dysplasia
- Keywords
- Skeletal Dysplasia, Short Stature, Bone Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- InnoskelIndustry (pharma, biotech, devices)
- Study start
- 29 Jun 2022 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 7 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Years
Who may qualify
- Ages
- Up to 12 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Infants and children with a type II collagen disorder with short stature from birth to 12 years of age.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (7 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Natural History StudyLongitudinal assessment of symptoms and development of complications in type II collagen disorders | Other | – |
Primary outcome
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.
Anthropometric measurements
Time frame: Up to 3 years
Collection of consistent growth measurements (in centimeters).
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.
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.
Change over time in pulmonary function
Time frame: Up to 3 years
Lung function measured through spirometry in all participants >4 years of age
Change over time in ophthalmological assessment
Time frame: Up to 3 years
Standard ophthalmological assessment.
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.
Measurement of biomarkers for bone growth
Time frame: Up to 3 years
Changes from baseline in serum collagen X fragments.
Measurement of CNP/ProCNP
Time frame: Up to 3 years
Changes from baseline in serum CNP/ProCNP
Measurement of bone-specific alkaline phosphatase (BALP)
Time frame: Up to 3 years
Changes from baseline in serum BALP
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.
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.
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Oct 2023.
- Background: PubMed 30696995Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium. Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genet Med. 2019 Sep;21(9):2070-2080. doi: 10.1038/s41436-019-0446-9. Epub 2019 Jan 30.
- Background: PubMed 16505708Oh CW, Thacker MM, Mackenzie WG, Riddle EC. Coxa vara: a novel measurement technique in skeletal dysplasias. Clin Orthop Relat Res. 2006 Jun;447:125-31. doi: 10.1097/01.blo.0000203476.81302.24.
- Background: PubMed 27866314Dhiman N, Albaghdadi A, Zogg CK, Sharma M, Hoover-Fong JE, Ain MC, Haider AH. Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. Qual Life Res. 2017 May;26(5):1337-1348. doi: 10.1007/s11136-016-1455-7. Epub 2016 Nov 19.
- Background: PubMed 15308901Graham HK, Harvey A, Rodda J, Nattrass GR, Pirpiris M. The Functional Mobility Scale (FMS). J Pediatr Orthop. 2004 Sep-Oct;24(5):514-20. doi: 10.1097/00004694-200409000-00011.
- Individual participant dataSharing planned: Undecided
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Andrea Superti-Furga principal investigator
Centre hospitalier universitaire vaudois, Lausanne
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of SEDC and Hypochondrogenesis, run by Innoskel at 2 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 Oct 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France, Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Samantha Parker (+33 (0)4 92 95 29 71, samantha.parker@innoskel.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collection of relevant medical data (retrospective and prospective) (time frame: Up to 3 years). The study lists 13 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05408715, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2023; AzTrials last refreshed its copy on 6 Nov 2026.