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NCT00001754 · ClinicalTrials.gov registry record
Study of Skeletal Disorders and Short Stature
A clinical trial, sponsored by National Human Genome Research Institute (NHGRI).
- Completed
- Registry status
- 600
- Enrollment target
NCT00001754 is a clinical trial that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 600 participants.
The verdict
NCT00001754 has completed, sponsored by National Human Genome Research Institute (NHGRI).
- COMPLETED
- Registry status
- 600 participants
- Enrollment target
Study Summary
This study will determine the genes responsible for skeletal dysplasias (disorders of the skeleton) and short stature and define the range and type of medical problems they cause over time. It will investigate whether specific gene changes cause specific medical problems in these disorders and identify the signs and symptoms upon which their diagnoses must be based. Individuals with short stature or with a skeletal dysplasia known or suspected to be caused by a gene mutation (change) may be eligible for this study. Family members may also participate. Skeletal dysplasias under study include: achondroplasia, hypochondroplasia, achondrogenesis type II, hypochondrogenesis, Kniest dysplasia, spondyloepiphyseal dysplasias, Stickler syndrome; Shmid and Jansen metaphyseal dysplasias; pyknodysotosis, proximal symphalangism, brachydactyly types B C and E, Ellis van Creveld and related disorders, metatrophic chondrodysplasias, cartilage-hair hypoplasia and disorders with a skeletal abnormality that have not yet been defined but might be the result of a genetic defect. Patients will talk with two genetics specialists who will explain the study and its possible implications for the patient and family and answer questions. The patient's medical records will be reviewed, a personal and family history will be taken, and a physical examination will be done. Various other procedures that may be done include drawing up to 6 tablespoons of blood, some of which will be used for DNA (genetic) studies, X-rays, echocardiography (ultrasound of the heart), magnetic resonance imaging (MRI), eye examination, hearing test, sleep study, sperm analysis and skin biopsy (surgical removal of a small piece of skin done under local anesthetic). There may be additional evaluations by specialists in rheumatology, rehabilitation medicine and orthopedics. When the tests and examinations are completed (after 2 to 3 days), a doctor will discuss the results with the patient. Patients whose DNA studies sho
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 600 participants |
| Start Date | 1998-06 |
| Est. Completion | 2001-05 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00001754
The ClinicalTrials.gov registry entry for NCT00001754 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 600 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.
The record links to 0 conditions, and to 0 interventions.
NCT00001754 reports 0 study locations.
Frequently Asked Questions
What is clinical trial NCT00001754 about?
NCT00001754 is a clinical study titled "Study of Skeletal Disorders and Short Stature". This study will determine the genes responsible for skeletal dysplasias (disorders of the skeleton) and short stature and define the range and type of medical problems they cause over time. It will investigate whether specific gene changes cause specific medical problems in these disorders and ident...
What is the current status of trial NCT00001754?
This trial is currently completed. The enrollment target is 600 participants. The study started on 1998-06. Estimated completion is 2001-05.
Who is sponsoring clinical trial NCT00001754?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
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