Natural History Study of Smith-Magenis Syndrome

NCT00013559 | Active Not Recruiting

• 2 other identifiers: 01010901-HG-0109
• Study Type: observational
• Target: 593
• Locations: 1 country
• Sites: 1

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 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. 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.

Conditions

Smith-Magenis Syndrome (SMS)

Keywords

Sleep Disturbance; Developmental Delay/Intellectual Disability; Deletion 17p11.2; Chromosomal Abnormalities; Behavioral Phenotype; Natural History; Smith-Magenis Syndrome; Genetics

Outcome Measures

Primary Outcomes (1)

• Natural History

  The major objective of this project is to investigate the clinical and molecular manifestations, phenotypic variability, natural history and pathogenesis of Smith-Magenis syndrome (SMS).

  Ongoing

Study Arms (2)

Family

Parents and/or siblings of patients with Smith-Magenis Syndrome (SMS) or suspected SMS.

Patients

Patients with Smith-Magenis Syndrome (SMS) or suspected SMS.

Eligibility Criteria

• Age: 1 Month - 115 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients and parents and/or siblings of patients with Smith-Magenis Syndrome (SMS) or suspected SMS.

You may qualify if:

• Persons with known or suspected SMS (male/female, all ages, all ethnicities), their parents and/or unaffected siblings are eligible for enrollment. In some cases, a screening evaluation to confirm the diagnosis may occur at NIH and/or via blood samples sent for deletion screening, prior to enrollment. Subjects may be excluded from further participation if the diagnosis of SMS is ruled out after the initial SMS screening evaluation and/or inability to obtain voluntary informed consent.
• Children (male \& female, all ethnicities) less than18 years with a confirmed diagnosis (based on current accepted diagnostic criteria) of a specified developmental disability (DD)/MR-syndrome reported to include sleep disturbance. These include: Prader-Willi syndrome (PWS), Down syndrome (DS), Cornelia deLange syndrome (CDLS), and/or behavioral diagnosis of autism, ADHD or fragile X syndrome.

You may not qualify if:

• Individuals who do not have a confirmed diagnosis of SMS.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (1)

• Lee NR, Niu X, Zhang F, Clasen LS, Kozel BA, Smith ACM, Wallace GL, Raznahan A. Variegation of autism related traits across seven neurogenetic disorders. Transl Psychiatry. 2022 Apr 7;12(1):149. doi: 10.1038/s41398-022-01895-0.

  PMID: 35393403 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Smith-Magenis Syndrome; Parasomnias; Learning Disabilities; Intellectual Disability; Chromosome Aberrations

Condition Hierarchy (Ancestors)

Chronobiology Disorders; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Sleep Wake Disorders; Mental Disorders; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Pathologic Processes

Study Officials

• William A Gahl, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 20, 2001
• First Posted: March 21, 2001
• Study Start: March 19, 2001
• Last Updated: May 22, 2026

Record last verified: 2026-03-12

Locations

US (1)