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Protocol Details

Clinical and Laboratory Study of Rare Skeletal Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

000213-HG

Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 mo
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

skeletal;
Bone;
Skeletal Dysplasia;
Short Stature;
DWARFISM;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Skeletal Disorders

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research Institute

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. 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.

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Eligibility

INCLUSION CRITERIA:

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 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:

1. Have a known (via clinical, radiographic or molecular diagnosis) or suspected skeletal disorder

2. State willingness to comply with study procedures and availability for the duration of the study

3. Be age 2 months or older

4. 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:

1. Be an unaffected family member of an affected enrolled subject

2. State willingness to comply with study procedures and availability for the duration of the study

3. Be age 2 months or older

4. Be able to understand and sign informed consent document (or availability of a parent/guardian)

EXCLUSION CRITERIA:

The below describe exclusion criteria for an individual to participate as an affected subject:

1. An individual who cannot or is unwilling to abide by the procedures of the protocol.

2. An individual deemed to not have sufficient signs of skeletal disease.

3. An individual who is pregnant.

The below describe exclusion criteria for an individual to participate as an unaffected subject:

1. An individual who cannot or is unwilling to abide by the procedures of the protocol.

2. An individual that shows signs of skeletal disease.

3. An individual who is pregnant.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Carlos R. Ferreira Lopez, M.D.
National Human Genome Research Institute (NHGRI)
NIHBC 49 - CONTE BG RM 4A38
49 CONVENT DR
BETHESDA MD 20892
(240) 393-5441
ferreiracr@mail.nih.gov

Holly E. Babcock
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 12
Room 1025-J
12 South Drive
Bethesda, Maryland 20892
(301) 594-3391
holly.babcock@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT05031507

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