An observational study in Skeletal Disorders, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Recruiting at 1 site in United States. Open to participants aged 2 Months to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-07-20.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
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.
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)
101 studies on the registry are indexed under Mucopolysaccharidosis IV; 27 are open to participants now.
This study's planned enrollment of 100 is close to the median of 100 across 41 observational studies indexed under Mucopolysaccharidosis IV.
Browse Mucopolysaccharidosis IV studies →Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 422 studies on the registry; 24 are open to participants now.
Of its 14 completed or terminated interventional studies of FDA-regulated products, 11 (79%) have results posted.
Counted across the registry records on this site, refreshed daily.
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.
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.
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:
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:
In order to be eligible to participate in this study as an unaffected subject, an individual must meet all of the following criteria:
EXCLUSION CRITERIA:
The below describe exclusion criteria for an individual to participate as an affected subject:
The below describe exclusion criteria for an individual to participate as an unaffected subject:
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.
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.
Subjects with rare skeletal disorders
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
Time frame: ongoing
Describe Natural History
To describe natural history of individual disorders if enough data is collected on a particular condition(s)
Time frame: ongoing
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) →