Trial record 1 of 243 for:    "pseudoachondroplasia" OR "Dwarfism"
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Study of Skeletal Disorders and Short Stature

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001754
First received: November 3, 1999
Last updated: March 3, 2008
Last verified: June 2000
  Purpose

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 show that a gene change is responsible for their disorder will meet with a genetics nurse or counselor to review the results, express their feelings and ask any questions they may have. Patients may be asked to return to NIH every 6 months to 2 years for continued follow-up. Medical management will be provided primarily by the patient's own physician.

Participating family members will be interviewed by telephone about their personal and family health history and will have a blood sample drawn for DNA testing. If a gene change is found that is responsible for the bone disorder or growth problem in the family, arrangements will be made for the family member to discuss the implications of the findings with a genetics specialist.


Condition
Developmental Bone Disease
Dwarfism
Skeletal Dysplasias

Study Type: Observational
Official Title: Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 600
Study Start Date: June 1998
Estimated Study Completion Date: May 2001
Detailed Description:

We will investigate the clinical manifestations and molecular genetic defects of human skeletal dysplasias and generalized short stature. Families with skeletal dysplasias or short stature of known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a skeletal dysplasia will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed for disorders in which the genetic bases is not yet known.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Patients with known or suspected skeletal dysplasias or short stature and their family members of any age will be recruited worldwide from diverse medical communities including genetics, orthopedics, ophthalmology, and pediatrics.

DISEASE CATEGORY I:

Individuals and family members with a suspected or an established diagnosis of any FGFR3 disorder, type II collagen disorder, Schmid metaphyseal dysplasia, pyknodysostosis, proximal symphalangism, or brachydactyly type C.

DISEASE CATEGORY II:

Individuals and family members with a suspected or an established diagnosis of a skeletal dysplasia in which the disease gene is not yet known, including: Ellis van Crevald, brachydactyly types B and E, and cartilage-hair hypoplasia.

DISEASE CATEGORY III:

Individuals and family members who have previously uncharacterized systemic manifestations suggestive of a skeletal dysplasias, with clinical findings of: disproportionate or proportionate short stature; and/or cleft palate; and/or detached retina; and/or history of loose joints or frequent joint dislocation; and/or history of, or family history of, premature arthritis.

Short Stature Category I: Individuals with generalized short stature and their family members. This includes adults with abnormal stature as statistically defined from standardized growth charts.

Must be able to give informed consent, older children (greater than or equal to 7 years old) who do not give assent, or persons who are wards of the state will be excluded from the study.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001754

Locations
United States, Maryland
National Human Genome Research Institute (NHGRI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00001754     History of Changes
Other Study ID Numbers: 980119, 98-HG-0119
Study First Received: November 3, 1999
Last Updated: March 3, 2008
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Dwarfism
Short Stature
Gene Mapping
Linkage
Mutation Analysis
Skeletal Biology
Brachydactyly Types C & E
Cartilage-Hair Hypoplasia
Ellis Van Crevald
FgFR-3
Proximal Symphalangism
Pyknodysotosis
Schmid Metaphyseal
Skeletal Dysplasia
Type II Collagen Disorder

Additional relevant MeSH terms:
Bone Diseases
Bone Diseases, Developmental
Dwarfism
Endocrine System Diseases
Genetic Diseases, Inborn
Musculoskeletal Diseases

ClinicalTrials.gov processed this record on October 23, 2014