Ignite Creation Date:
2024-05-05 @ 9:42 AM
Last Modification Date:
2024-10-26 @ 9:04 AM
Study NCT ID:
NCT00004351
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
1999-10-18
Brief Title:
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
Office of Rare Diseases ORD
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2003-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
OBJECTIVES I Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome SMS associated with del17p112
II Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p
III Clinically evaluate patients with Williams syndrome with molecular characterization of 7q1123
IV Perform clinical studies of Prader-Willi Angelman DiGeorge and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q112
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
II Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p
III Clinically evaluate patients with Williams syndrome with molecular characterization of 7q1123
IV Perform clinical studies of Prader-Willi Angelman DiGeorge and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q112
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
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
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 Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| BCM-H4299 | None | None | None |