Cleidocranial DysostosisNCT05368064
Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care
An observational study of Cleidocranial Dysostosis, run by Johns Hopkins University at 1 site in United States.
Trial summary
Cleidocranial Dysplasia (CCD) is a rare, autosomal dominant disorder characterized by dysplasia of bones and teeth. Given the rarity of this condition (prevalence of 1 in 1,000,000), the variable phenotype and lack of correlation to specific genotypes, coordinated clinical research is needed to better understand CCD. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Cleidocranial Dysostosis
- What is being tested?
- observational
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Oct 2021to 31 Dec 2028
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: patients with clinical or molecular diagnosis of CCD
Who may be able to join
- Patient has molecular or clinical diagnosis of CCD
- Caregiver or parent of patient with CCD.
Who cannot join
- Patient does not have CCD
- Patient over 18 but cannot consent for themselves
- Not fluent in English.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Cleidocranial Dysplasia (CCD) is a rare, autosomal dominant disorder characterized by dysplasia of bones and teeth. Given the rarity of this condition (prevalence of 1 in 1,000,000), the variable phenotype and lack of correlation to specific genotypes, coordinated clinical research is needed to better understand CCD. The purpose of this project is to: investigate the genetic makeup and phenotypic expression of CCD, understand the quality of life for patients with this diagnosis, and further identify the multidimensional healthcare needs of these patients. Participation involves completion of a survey to ascertain medical history and quality of life, a physical exam and research whole exome sequencing from a blood or saliva sample. The goal of this research is to elucidate critical pathways in skeletal and dental development and improve quality of life for CCD patients through the standardization and optimization of timely diagnosis and multidisciplinary care.
- Conditions
- Cleidocranial Dysostosis
- Being tested
- observational
- Medical subject headings
- Cleidocranial Dysplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
observationalOther
collection of phenotype data
What is being measured
The primary outcome is the main question the study is designed to answer.
Presence of RUNX2 mutation
identify the RUNX2 mutation in each participant
Measured: 3 years
Phenotypic description of each patient with CCD
Physical exam, dental exam, medical history collection
Measured: 3 years
Secondary outcomes (5)
Patient financial stress quality of life score as assessed by the Comprehensive Score for Financial Toxicity-Functional Assessment of Chronic Illness Therapy (COST-FACIT)
Comprehensive Score for Financial Toxicity-Functional Assessment of Chronic Illness Therapy (COST-FACIT) will be used to assess financial quality of life stress; numeric response 0-4; Score range 0-44 with higher scores indicating better Financial Well-Being.
Measured: 3 years
Patient-reported health-related quality of life as assessed by the FANLTC (Functional Assessment of Non-life-threatening conditions)
FAN LTC (0 = not al all, 4 = very much)
Measured: 3 years
Patient-reported health-related quality of life
Quality of Life questionnaire (7 = delighted, 1 = terrible)
Measured: 3 years
Caregiver-reported quality of life of caregivers for patients with CCD
COST-FACIT (variable quality of numeric response 0-4); FAN LTC (0 = not at all, 4 = very much)
Measured: 3 years
Whole exome sequencing if RUNX2 molecular analysis negative for pathogenic variant
sequencing
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 May 2022
- Study start1 Oct 2021
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cleidocranial DysostosisStudies of the same condition, open and under way.
- More trials run by Johns Hopkins UniversityThe sponsor's other registered studies.
- 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
- Cross-sectional
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Johns Hopkins University
- Sponsor type
- University, hospital or other
- Collaborators
- Greenberg Center
- Responsible party
- Sponsor
- Investigators
- Ilana Ickow, DMD, MS, Principal investigator, Johns Hopkins University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05368064
- Sponsor's protocol ID
- IRB00246592
- Status last verified
- Oct 2025
- First submitted
- 6 May 2022
- Last updated
- 22 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 22 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care
- ClinicalTrials.gov ID
- NCT05368064
- Acronym / sponsor ID
- IRB00246592
- Conditions
- Cleidocranial Dysostosis
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Johns Hopkins UniversityUniversity, hospital or other
- Collaborators
- Greenberg Center
- Study start
- 1 Oct 2021 (actual)
- Primary completion
- 31 Dec 2027 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 10 May 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.
Cleidocranial Dysplasia (CCD) is a rare, autosomal dominant disorder characterized by dysplasia of bones and teeth. Given the rarity of this condition (prevalence of 1 in 1,000,000), the variable phenotype and lack of correlation to specific genotypes, coordinated clinical research is needed to better understand CCD. The purpose of this project is to: investigate the genetic makeup and phenotypic expression of CCD, understand the quality of life for patients with this diagnosis, and further identify the multidimensional healthcare needs of these patients. Participation involves completion of a survey to ascertain medical history and quality of life, a physical exam and research whole exome sequencing from a blood or saliva sample. The goal of this research is to elucidate critical pathways in skeletal and dental development and improve quality of life for CCD patients through the standardization and optimization of timely diagnosis and multidisciplinary care.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- patients with clinical or molecular diagnosis of CCD
Key inclusion criteria (2 listed)
- Patient has molecular or clinical diagnosis of CCD
- Caregiver or parent of patient with CCD.
Key exclusion criteria (3 listed)
- Patient does not have CCD
- Patient over 18 but cannot consent for themselves
- Not fluent in English.
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 |
|---|---|---|
| observationalcollection of phenotype data | Other | – |
Primary outcome
Presence of RUNX2 mutation
Time frame: 3 years
identify the RUNX2 mutation in each participant
Phenotypic description of each patient with CCD
Time frame: 3 years
Physical exam, dental exam, medical history collection
5 secondary outcomes
Patient financial stress quality of life score as assessed by the Comprehensive Score for Financial Toxicity-Functional Assessment of Chronic Illness Therapy (COST-FACIT)
Time frame: 3 years
Patient-reported health-related quality of life as assessed by the FANLTC (Functional Assessment of Non-life-threatening conditions)
Time frame: 3 years
Patient-reported health-related quality of life
Time frame: 3 years
Caregiver-reported quality of life of caregivers for patients with CCD
Time frame: 3 years
Whole exome sequencing if RUNX2 molecular analysis negative for pathogenic variant
Time frame: 3 years
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 22 Oct 2025.
- 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.
Ilana Ickow, DMD, MS principal investigator
Johns Hopkins University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cleidocranial Dysostosis, run by Johns Hopkins University at 1 site in United States.
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 2 inclusion and 3 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: enrolling by invitation, as of the sponsor's last update on 22 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Presence of RUNX2 mutation (time frame: 3 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 22 Oct 2025.