Williams SyndromeNCT00004351
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
An observational study of Williams Syndrome and Angelman Syndrome, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 0 years and older
- Conditions the study is for
- Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 1999to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read more
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.
- 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.
Read the 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.
- Conditions
- Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome, Smith-Magenis Syndrome, DiGeorge Syndrome
- Keywords
- 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
- Medical subject headings
- Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, DiGeorge Syndrome, Smith-Magenis Syndrome, Chromosome Aberrations, Genetic Diseases, Inborn, Neurologic Manifestations
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 1999 (estimated)
- Study startSep 1999
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Williams SyndromeStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 20 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Collaborators
- Baylor College of Medicine
- Investigators
- James R. Lupski, Study chair, Baylor College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004351
- Sponsor's protocol ID
- 199/11914
- Other IDs
- BCM-H4299
- Status last verified
- Oct 2003
- First submitted
- 18 Oct 1999
- Last updated
- 24 Jun 2005
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
- ClinicalTrials.gov ID
- NCT00004351
- Acronym / sponsor ID
- 199/11914
- Conditions
- Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome, Smith-Magenis Syndrome, DiGeorge Syndrome
- Keywords
- Angelman syndrome, DiGeorge syndrome, Prader-Willi syndrome, Shprintzen syndrome, Smith-Magenis syndrome, Williams syndrome, genetic diseases and dysmorphic syndromes, neurologic and psychiatric disorders
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Collaborators
- Baylor College of Medicine
- Study start
- Sep 1999
- First posted
- 19 Oct 1999 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
- 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.
Study design
Who may qualify
- Ages
- 0 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2005.
Related trials for Williams Syndrome
RecruitingObservational study
Defining the Brain Phenotype of Children With Williams Syndrome
Williams Syndrome, Duplication
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Recruiting
Characterization of the Natural History of Microduplication Syndrome 7q11.23
7q11.23 Microduplication Syndrome (7DUP), Autism Spectrum Disorder (ASD)
Enrolling by invitation
Parent and Infant Inter(X)Action Intervention (PIXI)
Fragile X Syndrome, Angelman Syndrome
RecruitingObservational study
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
Williams Beuren Syndrome, Williams Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
James R. Lupski study chair
Baylor College of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Williams Syndrome and Angelman Syndrome, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Jun 2005. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jun 2005.