Skeletal DisordersNCT05031507
Study of Skeletal Disorders
An observational study of Skeletal Disorders, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial summary
Background: There are 461 conditions that affect the bones (skeletal disorders). Many of these are not well understood and do not have any specific treatments. Researchers want to collect more data about these conditions. Read more about this study
- Who is it for?
- Ages 2 months to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Skeletal Disorders
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Jan 2022to 31 Jul 2027
- 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 2 months to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Study cohort will include individuals with known (via clinical, radiographic or molecular diagnosis) or suspected skeletal disorders, findings associated with or increasing risk for skeletal abnormalities, or history of pregnancy affected by skeletal findings.
Who may be able to join
- Our study population will support the mission and scientific focus of the Unit on Skeletal Genomics. We will focus enrollment of subjects (and their relatives) who fall within one of the below categories:
- Individuals with a skeletal disorder that affects phosphate levels and/or metabolism
- Individuals with a skeletal disorder associated with skeletal overgrowth
- Individuals with a skeletal disorder or history of pregnancy affected by skeletal findings with an unknown molecular basis or unknown etiology
- In addition to noting the above, to be eligible to participate in this study as an affected subject, an individual must meet all of the following criteria:
- Have a known (via clinical, radiographic or molecular diagnosis) or suspected skeletal disorder, findings associated with or increasing risk for skeletal abnormalities, or history of pregnancy affected by skeletal findings
Show all 14Show fewer
- State willingness to comply with study procedures and availability for the duration of the study
- Be age 2 months or older
- Be able to understand and sign informed consent document (or availability of a parent/guardian or LAR to provide written consent)
- In order to be eligible to participate in this study as an unaffected subject, an individual must meet all of the following criteria:
- Be an unaffected family member of an affected enrolled subject
- State willingness to comply with study procedures and availability for the duration of the study
- Be age 2 months or older
- Be able to understand and sign informed consent document (or availability of a parent/guardian)
Who cannot join
- The below describe exclusion criteria for an individual to participate as an affected subject:
- An individual who cannot or is unwilling to abide by the procedures of the protocol.
- An individual deemed to not have sufficient signs of or risks for skeletal disease.
- An individual who is pregnant.
- The below describe exclusion criteria for an individual to participate as an unaffected subject:
- An individual who cannot or is unwilling to abide by the procedures of the protocol.
- An individual that shows signs of skeletal disease.
- An individual who is pregnant.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
About this study
Official title: Clinical and Laboratory Study of Rare Skeletal Disorders
Background:
There are 461 conditions that affect the bones (skeletal disorders). Many of these are not well understood and do not have any specific treatments. Researchers want to collect more data about these conditions.
Read more
Objective:
To gain more information about the causes of skeletal disorders and how they progress over time.
Eligibility:
People ages 2 months or older with known or suspected skeletal disorders or history of pregnancy affected by skeletal findings. Also, healthy family members of affected enrolled participants.
Design:
Participants can take part in the study either remotely or in person. Those who take part remotely may send in medical records, blood samples, photographs, and other materials.
Participants medical records will be reviewed. They may give blood and/or urine samples. They will give blood, saliva, or tissue samples for genetic tests. They may have genetic counseling.
Participants ages 2 years and older may have different kinds of imaging scans, such as x-rays. For these scans, they may have to lie still while machines take pictures of their bones.
Participants with skeletal disorders who come to the clinic will be examined. They may be asked to stay in the hospital for a few days to take extra tests. They may have a bone or skin biopsy.
Participants with skeletal disorders may be photographed to show the effects of their disorder and how it changes over time.
For participants with skeletal disorders, their blood or tissue samples may be used to make a special type of stem cell. These cells can be used in the laboratory to make many other types of cells. A large supply of these cells may be created for research.
Participation will last indefinitely.
Read the detailed description
Study Description:
This is a clinical and laboratory study of rare skeletal disorders using a combination of both retrospective and prospective methods. This is a single site study taking place at the NIH Clinical Center with the added ability for participants to submit medical records and specimens remotely.
Objectives:
Primary Objective: To provide a protocol in which subjects with rare skeletal disorders can be evaluated and studied and to allow for the receipt of tissues and clinical specimens from individuals and investigators outside of the NIH
Secondary Objective: To perform genetic testing including genes currently known to cause skeletal disorders as well as those currently without association with skeletal disorders
Endpoints:
Primary Endpoint: To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible
Secondary Endpoints: To describe natural history of individual disorders if enough data is collected on a particular condition(s)
- Conditions
- Skeletal Disorders
- Keywords
- skeletal, Bone, Skeletal Dysplasia, Short Stature, DWARFISM, Natural History
- Medical subject headings
- Mucopolysaccharidosis IV, Dwarfism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Subjects with rare skeletal disorders |
What is being measured
The primary outcome is the main question the study is designed to answer.
To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible
To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible
Measured: ongoing
Secondary outcomes (1)
Describe Natural History
To describe natural history of individual disorders if enough data is collected on a particular condition(s)
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Sep 2021
- Study start18 Jan 2022
- Primary completion31 Jul 2027 (estimated)
- Study completion31 Jul 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Skeletal DisordersStudies 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
- Case only
- Time perspective
- Other
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Carlos R Ferreira Lopez, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05031507
- Sponsor's protocol ID
- 10000213
- Other IDs
- 000213-CH
- Status last verified
- 16 Jul 2026
- First submitted
- 1 Sep 2021
- Last updated
- 20 Jul 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Laboratory Study of Rare Skeletal Disorders
- ClinicalTrials.gov ID
- NCT05031507
- Acronym / sponsor ID
- 10000213
- Conditions
- Skeletal Disorders
- Keywords
- skeletal, Bone, Skeletal Dysplasia, Short Stature, DWARFISM, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 18 Jan 2022 (actual)
- Primary completion
- 31 Jul 2027 (estimated)
- Study completion
- 31 Jul 2027 (estimated)
- First posted
- 2 Sep 2021 (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.
Background:
There are 461 conditions that affect the bones (skeletal disorders). Many of these are not well understood and do not have any specific treatments. Researchers want to collect more data about these conditions.
Objective:
To gain more information about the causes of skeletal disorders and how they progress over time.
Eligibility:
People ages 2 months or older with known or suspected skeletal disorders or history of pregnancy affected by skeletal findings. Also, healthy family members of affected enrolled participants.
Design:
Participants can take part in the study either remotely or in person. Those who take part remotely may send in medical records, blood samples, photographs, and other materials.
Participants medical records will be reviewed. They may give blood and/or urine samples. They will give blood, saliva, or tissue samples for genetic tests. They may have genetic counseling.
Participants ages 2 years and older may have different kinds of imaging scans, such as x-rays. For these scans, they may have to lie still while machines take pictures of their bones.
Participants with skeletal disorders who come to the clinic will be examined. They may be asked to stay in the hospital for a few days to take extra tests. They may have a bone or skin biopsy.
Participants with skeletal disorders may be photographed to show the effects of their disorder and how it changes over time.
For participants with skeletal disorders, their blood or tissue samples may be used to make a special type of stem cell. These cells can be used in the laboratory to make many other types of cells. A large supply of these cells may be created for research.
Participation will last indefinitely.
Detailed description
Study Description:
This is a clinical and laboratory study of rare skeletal disorders using a combination of both retrospective and prospective methods. This is a single site study taking place at the NIH Clinical Center with the added ability for participants to submit medical records and specimens remotely.
Objectives:
Primary Objective: To provide a protocol in which subjects with rare skeletal disorders can be evaluated and studied and to allow for the receipt of tissues and clinical specimens from individuals and investigators outside of the NIH
Secondary Objective: To perform genetic testing including genes currently known to cause skeletal disorders as well as those currently without association with skeletal disorders
Endpoints:
Primary Endpoint: To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible
Secondary Endpoints: To describe natural history of individual disorders if enough data is collected on a particular condition(s)
Study design
- Observational model
- Case only
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Subjects with rare skeletal disorders |
Who may qualify
- Ages
- 2 months to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Study cohort will include individuals with known (via clinical, radiographic or molecular diagnosis) or suspected skeletal disorders, findings associated with or increasing risk for skeletal abnormalities, or history of pregnancy affected by skeletal findings.
Key inclusion criteria (14 listed)
- Our study population will support the mission and scientific focus of the Unit on Skeletal Genomics. We will focus enrollment of subjects (and their relatives) who fall within one of the below categories:
- Individuals with a skeletal disorder that affects phosphate levels and/or metabolism
- Individuals with a skeletal disorder associated with skeletal overgrowth
- Individuals with a skeletal disorder or history of pregnancy affected by skeletal findings with an unknown molecular basis or unknown etiology
- In addition to noting the above, to be eligible to participate in this study as an affected subject, an individual must meet all of the following criteria:
Key exclusion criteria (8 listed)
- The below describe exclusion criteria for an individual to participate as an affected subject:
- An individual who cannot or is unwilling to abide by the procedures of the protocol.
- An individual deemed to not have sufficient signs of or risks for skeletal disease.
- An individual who is pregnant.
- The below describe exclusion criteria for an individual to participate as an unaffected subject:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible
Time frame: ongoing
To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible
1 secondary outcome
Describe Natural History
Time frame: ongoing
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 20 Jul 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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.
Carlos R Ferreira Lopez, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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 Skeletal Disorders, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 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 14 inclusion and 8 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 20 Jul 2026. 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?
Contact Holly E Babcock ((301) 594-3391, holly.babcock@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible (time frame: ongoing). 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 20 Jul 2026.