Viewing Study NCT00013559



Ignite Creation Date: 2024-05-05 @ 11:23 AM
Last Modification Date: 2024-10-26 @ 9:06 AM
Study NCT ID: NCT00013559
Status: ACTIVE_NOT_RECRUITING
Last Update Posted: 2024-07-08
First Post: 2001-03-20

Brief Title: Natural History Study of Smith-Magenis Syndrome
Sponsor: National Human Genome Research Institute NHGRI
Organization: National Institutes of Health Clinical Center CC

Study Overview

Official Title: Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome SMS
Status: ACTIVE_NOT_RECRUITING
Status Verified Date: 2024-10-10
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: 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 17p112 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 17p112 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 eg X-rays ultrasound MRI developmental and behavioral assessment rehabilitation evaluation with gait walking analysis urinalysis blood andor 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 18 inch is removed with a biopsy tool Parents may be asked to complete questionnaires about their child s growth and development therapies medications sleep development and behavioral concerns They also may be asked to bring their child to NIH for follow-up visits every 6 months to 3 years depending on the child s age The purpose of these visits is to see how the child changes over time and to conduct additional tests

Parents may also be asked to enroll their child in a SMS Research Registry and provide tissue samples for a SMS Research Core Tissue Bank The research registry is a confidential database of individuals diagnosed with SMS Its purpose is to facilitate SMS research initiatives and promote the development of improved treatments for SMS Enrollment requires completing a 30-minute questionnaire The tissue bank stores tissue cultures and cell lines created for future SMS research About 2 teaspoons of blood are drawn from adult patients and 1 to 3 teaspoons from children depending on their size Tissue samples can be obtained by skin biopsy or during a scheduled surgical procedure

Detailed Description: This project investigates the clinical manifestations and molecular genetic defects of Smith-Magenis Syndrome SMS a rare 115000 125000 clinically recognizable yet often under diagnosed multiple congenital anomalyintellectual disability MCAID syndrome OMIM 182290 The syndrome is characterized by a distinct pattern of minor craniofacial and skeletal anomalies expressive speechlanguage delays psychomotor and growth retardation and a striking neurobehavioral phenotype that includes a circadian sleep disorder The majority of cases 90 are due to de novo interstitial deletion of chromosome 17p112 that includes the RAI1 retinoic acid induced 1 gene however heterozygous RAI1 mutations account for about 10 of cases While clinical variability exists haploinsufficiency of RAI1 by deletion or mutation is believed to be responsible for most of the common features that characterize the syndrome

Individuals with confirmed or clinically suspected SMS their parents andor unaffected siblings will be enrolled in this comprehensive longitudinal natural history study An NIH interdisciplinary SMS Research Team SMS-RT of clinical and basic science researchers in collaboration with extramural investigators will conduct comprehensive clinical and molecular analyses to delineate the physiological developmental cognitive behavioral biochemical and cellular processes that characterize the syndrome The protocol aims to characterize the phenotypic variability natural history and underlying pathophysiology of SMS delineate the neurobehavioral phenotype with respect to sleep disturbance cognition mood and maladaptive behaviors and sensory processing dysfunction investigate the physiologic and functional aspects specifically underlying delays in speechlanguage and motor development explore genotypephenotype correlations to identify genes or modifiers that contribute to phenotypic variability determine potential intervention and therapeutic strategies likely to improve outcome and evaluate the psychosocial impact of SMS on the family system Offsite enrollment of two pediatric comparison groups to participate in the Home Assessment of Sleep HAS are also enrolled 1 unaffected siblingscontrol group and 2 a DDID-comparison group of children with developmentalintellectual disabilities associated with sleep disturbances

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: False
Is a FDA Regulated Device?: False
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None
Secondary IDs
Secondary ID Type Domain Link
01-HG-0109 None None None