Study of Skeletal Disorders
ConditionSkeletal Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2-100
SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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
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
Disqualifiers
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.
An individual who cannot or is unwilling to abide by the procedures of the protocol.
Trial 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.
Trial design
Design model
Case-only
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
100 Participants
are grouped into 1 trial groupGroup A: 1
Trial outcomes
Primary outcomes
1
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
ongoingSecondary outcomes
1
Describe Natural History
To describe natural history of individual disorders if enough data is collected on a particular condition(s)
Time frame
ongoingSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov