View clinical trials related to Smith-Magenis Syndrome.
Filter by: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.
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. 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.