- ICH GCP
- Register voor klinische proeven in de VS.
- Klinische proef NCT00001639
Evaluation of Patients With Unresolved Chromosome Abnormalities
Evaluation of Patients With Unresolved Chromosome Aberrations
The purpose of this research is to study a new way to test for chromosome abnormalities. Chromosomes are strands of DNA (the genetic material in the cell nucleus) that are made up of genes-the units of heredity. Chromosome abnormalities are usually investigated by staining the chromosomes with a dye (Giemsa stain) and examining them under a microscope. This method can detect many duplications and deletions of pieces of chromosomes and is very accurate in diagnosing certain abnormalities. It is not useful, however, for identifying very small abnormalities. This study will evaluate the accuracy of a test method using 24 different dyes for finding small chromosome abnormalities.
Children and adults with various chromosome abnormalities may be eligible for this study, including, for example, people with developmental delay or mental retardation, abnormal growth features or growth retardation, and certain behavioral disorders. Participants will be evaluated in the clinic over a 1- to 3-day period, depending on their symptoms. All participants will be examined by a genetics specialist and will have a physical examination and possibly X-rays, computerized tomography (CT) scans, magnetic resonance imaging (MRI), ultrasound studies and medical photography. Blood will be drawn for chromosome testing-about 3 tablespoons from adults and 1 to 3 teaspoons from children.
When the test results are available, participants will return to the clinic for follow-up evaluation and review of the test findings. The genetic and medical evaluations, along with their implications, will be discussed.
Studie Overzicht
Toestand
Gedetailleerde beschrijving
Studietype
Inschrijving
Contacten en locaties
Studie Locaties
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Maryland
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Bethesda, Maryland, Verenigde Staten, 20892
- National Human Genome Research Institute (NHGRI)
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Deelname Criteria
Geschiktheidscriteria
Leeftijden die in aanmerking komen voor studie
- Kind
- Volwassen
- Oudere volwassene
Accepteert gezonde vrijwilligers
Geslachten die in aanmerking komen voor studie
Beschrijving
Physical anomalies or developmental anomalies.
Karyotype showing derivative chromosome abnormality that is not fully characterized.
No abnormal parental karyotype.
No prenatal specimens.
Probands of all ages, genders, and ethnic origin are eligible.
The proband must have a non-mosaic abnormal G-banded chromosome analysis of good quality that shows one or more derivative chromosomes whose foreign component cannot be determined by standard G-banding techniques.
The parents should also have G-banded chromosome analysis prior to eligibility for consent 2. If this has not been done by the referring physician, it may be done as part of the protocol.
The proband with the abnormal karyotype should have one or more of the following features: dysmorphic features; developmental delay or mental retardation; growth retardation, microephaly, short stature or failure to thrive; behavioral disorder
Biological parents must be willing to supply a blood specimen. If they have any of the features listed above, they must attend the clinic if the proband is to be eligible.
The proband must be evaluated by the NCHGR clinical genetics service by the PI, a co-investigator, or his associates.
Mothers will be queried about potential non-paternity. If non-paternity is possible, the family will need to undergo clinical paternity evaluation before they are enrolled in the study.
Studie plan
Hoe is de studie opgezet?
Medewerkers en onderzoekers
Studie record data
Bestudeer belangrijke data
Studie start
Primaire voltooiing
Studie voltooiing
Studieregistratiedata
Eerst ingediend
Eerst ingediend dat voldeed aan de QC-criteria
Eerst geplaatst (Schatting)
Updates van studierecords
Laatste update geplaatst (Schatting)
Laatste update ingediend die voldeed aan QC-criteria
Laatst geverifieerd
Meer informatie
Termen gerelateerd aan deze studie
Aanvullende relevante MeSH-voorwaarden
- Psychische aandoening
- Ziekten van het zenuwstelsel
- Neurologische manifestaties
- Neurologische gedragsmanifestaties
- Musculoskeletale aandoeningen
- Neurologische ontwikkelingsstoornissen
- Craniofaciale afwijkingen
- Musculoskeletale afwijkingen
- Misvormingen van corticale ontwikkeling, groep I
- Misvormingen van corticale ontwikkeling
- Misvormingen van het zenuwstelsel
- Aangeboren afwijkingen
- Microcefalie
- Verstandelijk gehandicapt
- Falen om te gedijen
Andere studie-ID-nummers
- 970045
- 97-HG-0045
Informatie over medicijnen en apparaten, studiedocumenten
Bestudeert een door de Amerikaanse FDA gereguleerd geneesmiddel
Bestudeert een door de Amerikaanse FDA gereguleerd apparaatproduct
product vervaardigd in en geëxporteerd uit de V.S.
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