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

Prader-Willi Syndrome Clinical Trial

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00004351
• Other study ID #: 199/11914
• Secondary ID: BCM-H4299
• Status: Completed
• Phase: N/A
• First received: October 18, 1999
• Last updated: June 23, 2005
• Start date: September 1999

Study information

• Verified date: October 2003
• Source: Office of Rare Diseases (ORD)
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 20
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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

Study Design

Primary Purpose: Screening

Related Conditions & MeSH terms

• Angelman Syndrome
• Chromosome Aberrations
• Chromosome Abnormalities
• Chromosome Disorders
• DiGeorge Syndrome
• Prader-Willi Syndrome
• Shprintzen Syndrome
• Smith-Magenis Syndrome
• Syndrome
• Williams Syndrome

Locations

Country	Name	City	State
United States	Baylor College of Medicine	Houston	Texas

Sponsors (2)

Lead Sponsor	Collaborator
National Institute of Neurological Disorders and Stroke (NINDS)	Baylor College of Medicine

Country where clinical trial is conducted

United States,