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Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Clinical Trials Data presented on Clinical Trials Search is not meant to be a substitute for qualified health advice, visits or treatment with a real mD. We are not doctors. Always consult your doctor about Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes conditions. Clinical Trials Search.org is a site devoted to listing clinical research studies in human subjects. Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Clinical research trials and Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes healthcare trials happen in many of places across the United States. A clinical trial or clinical study is a research project with human volunteer subjects. Clinical drug trials and pharmaceutical clinical trials generally assess the effectivity of new drugs. The purpose of the studies / projects is to solve particular human medical questions. Clinical trials are a popular way for doctors, government agencies, and private sector companies to discover cures for all varieties of conditions, such as Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes. Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Clinical Trials and other clinical trials allow volunteers to have health treatment alternatives before they are available to the masses. Some times the human subjects obtain treatment for without cost, and sometimes they are compensated for their time. Occasionally there is a cost for a Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes clinical trial. Test subjects oftentimes receive the most effective healthcare possible for their Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes condition. Dangers are a reality, however, and may include extra or frequent physician visits, healthcare dangers (possibly life-jeopardising), and/or the treatment being uneffective. Trials are federally governed with rigorous guidelines to protect clinical trials patients.
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Home > "S" Clinical Trials Conditions > Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes  Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
For Condition: Williams Syndrome,Angelman Syndrome,DiGeorge Syndrome,Shprintzen syndrome,Prader-Willi Syndrome,Smith-Magenis syndrome,Chromosome Abnormalities
Status: Completed
Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS) , Baylor College of Medicine
Synopsis: OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p. III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23. IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2. V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13. VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene. VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.
Details: PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic, otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal ultrasound. Smith-Magenis patients are also evaluated with the following: urine melatonin levels during day and night hours; anthropometrics; sleep and behavioral history; and renal, immunologic, and cholesterol studies. A clinical and phenotypic map is constructed. When appropriate, parental chromosome analysis is performed.
Eligibility:
Study Type: Observational, Screening
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Contiguous gene deletion syndrome, e.g.: Smith-Magenis syndrome Williams syndrome DiGeorge syndrome Shprintzen syndrome (velo-cardio-facial syndrome) Prader-Willi syndrome Angelman syndrome Deletion of chromosome 1p Patient age: Any age
Total Enrollment: 20
Location and Contact Information:
Overall Study Official:
JamesLupski, Study Chair, Baylor College of Medicine
Baylor College of Medicine
Houston, Texas, 77030
United States
Additional Information:
Study ID Numbers: 199/11914; BCM-H4299
Study Start Date: September 1999
Record last reviewed: October 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00004351
Other Williams Syndrome Studies:
1. Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
2. Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
Related Studies:
Other Williams Syndrome Clinical Trials
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Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
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