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NCT00013559 · ClinicalTrials.gov registry record
Natural History Study of Smith-Magenis Syndrome
A clinical trial of Smith-Magenis Syndrome (SMS), sponsored by National Human Genome Research Institute (NHGRI).
- Active
- Registry status
- 593
- Enrollment target
- 1
- Study location
NCT00013559 is a study of Smith-Magenis Syndrome (SMS) that is active but no longer recruiting, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 593 participants. The trial reports 1 study location across 1 state.
The verdict
NCT00013559, a study of Smith-Magenis Syndrome (SMS), is active but no longer recruiting, sponsored by National Human Genome Research Institute (NHGRI).
- ACTIVE NOT RECRUITING
- Registry status
- 593 participants
- Enrollment target
- 1
- Study location
Study Summary
This study will examine how a rare disease called Smith-Magenis syndrome (SMS) affects people and how they change over time. SMS is caused by a small chromosome 17p11.2 deletion (missing piece). The syndrome is associated with distinct physical, developmental and behavioral characteristics, but it is not fully understood. To learn more about this disease, a multidisciplinary research team will study: * The range and type of medical, behavioral, and learning problems of people with SMS * The deletion of chromosome 17p11.2 to find the gene or genes that cause SMS * Whether certain specific genetic changes cause certain specific medical problems * What signs and symptoms must be present to make a diagnosis of SMS * The impact that a child with SMS has on his or her family members. Patients of all ages with SMS may be eligible for this study. They will be evaluated by a team of medical specialists at the NIH Clinical Center over the course of several days. Parents of patients will be asked to provide copies of past medical records and tests results for review. They will provide a family medical history and information on the child s prenatal, developmental, behavioral and medical histories. The study may involve the following evaluations: physical, neurological and psychological exams; ear, nose and throat evaluation; speech, language and swallowing evaluation; hearing test; eye examination; imaging studies (e.g., X-rays, ultrasound, MRI); developmental and behavioral assessment; rehabilitation evaluation with gait (walking) analysis; urinalysis, blood, and/or skin cell studies; sleep study; other consultations as required. A tissue sample (blood or cheek swab or skin biopsy) may be taken for genetic studies. To obtain a cheek swab, a small brush is rubbed against the inside of the cheek to wipe off some cells. For a skin biopsy, a small area of skin is numbed with a local anesthetic and a small circle of skin, usually about 1/8 inch, is removed with a biopsy tool. P
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 593 participants |
| Start Date | 2001-03-19 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00013559
The ClinicalTrials.gov registry entry for NCT00013559 describes a study currently listed as active not recruiting, categorized as an unspecified phase. The registered enrollment target is 593 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.
The record links to 1 condition, with Smith-Magenis Syndrome (SMS) appearing as the primary indexed condition, and to 0 interventions.
NCT00013559 reports 1 study location spanning 1 distinct geographic area - top geographies include Maryland.
Frequently Asked Questions
What is clinical trial NCT00013559 about?
NCT00013559 is a clinical study titled "Natural History Study of Smith-Magenis Syndrome". This study will examine how a rare disease called Smith-Magenis syndrome (SMS) affects people and how they change over time. SMS is caused by a small chromosome 17p11.2 deletion (missing piece). The syndrome is associated with distinct physical, developmental and behavioral characteristics, but it i...
What is the current status of trial NCT00013559?
This trial is currently active not recruiting. The enrollment target is 593 participants. The study started on 2001-03-19.
What conditions does trial NCT00013559 study?
This clinical trial studies the following conditions: Smith-Magenis Syndrome (SMS).
Who is sponsoring clinical trial NCT00013559?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00013559 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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