Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

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ClinicalTrials.gov Identifier: NCT00004351

Recruitment Status : Completed

First Posted : October 19, 1999

Last Update Posted : June 24, 2005

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Sponsor:

Collaborator:

Baylor College of Medicine

Information provided by:

Office of Rare Diseases (ORD)

Study Description

Brief Summary:

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.

Condition or disease
Williams Syndrome Angelman Syndrome Prader-Willi Syndrome Shprintzen Syndrome Smith-Magenis Syndrome DiGeorge Syndrome Chromosome Abnormalities

Detailed Description:

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.

Study Design

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Study Type :	Observational
Enrollment :	20 participants
Study Start Date :	September 1999

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Prader-Willi syndrome 22q11.2 deletion syndrome Williams syndrome Smith-Magenis syndrome Angelman syndrome

Genetic and Rare Diseases Information Center resources: Prader-Willi Syndrome 22q11.2 Deletion Syndrome Angelman Syndrome Williams Syndrome Smith-Magenis Syndrome Aortic Valve Stenosis Lymphatic Malformations Hypoparathyroidism

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	0 Years and older (Child, Adult, Older Adult)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

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

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004351

Locations

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United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030

Sponsors and Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

Baylor College of Medicine

Investigators

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Study Chair:	James R. Lupski	Baylor College of Medicine

More Information

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ClinicalTrials.gov Identifier:	NCT00004351
Other Study ID Numbers:	199/11914 BCM-H4299
First Posted:	October 19, 1999 Key Record Dates
Last Update Posted:	June 24, 2005
Last Verified:	October 2003

Keywords provided by Office of Rare Diseases (ORD):


Angelman syndrome DiGeorge syndrome Prader-Willi syndrome Shprintzen syndrome Smith-Magenis syndrome	Williams syndrome genetic diseases and dysmorphic syndromes neurologic and psychiatric disorders rare disease

Additional relevant MeSH terms:

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DiGeorge Syndrome Prader-Willi Syndrome Angelman Syndrome Williams Syndrome Smith-Magenis Syndrome Chromosome Disorders Syndrome Chromosome Aberrations Disease Pathologic Processes Congenital Abnormalities Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases	Abnormalities, Multiple Genetic Diseases, Inborn Obesity Overweight Overnutrition Nutrition Disorders Movement Disorders Central Nervous System Diseases Aortic Stenosis, Supravalvular Aortic Valve Stenosis Aortic Valve Disease Heart Valve Diseases Heart Diseases Cardiovascular Diseases 22q11 Deletion Syndrome

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