Rare disease mystery: NIH launches deep dive into Smith-Magenis syndrome

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* INCLUSION CRITERIA FOR LONGITUDINAL SMS NATURAL HISTORY STUDY: 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. INCLUSION CRITERIA FOR HOME ASSESSMENT OF SLEEP (HAS) DD/MR-SYNDROME COMPARISON GROUP: 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. EXCLUSION CRITERIA FOR HOME ASSESSMENT OF SLEEP (HAS) DD/MR-SYNDROME COMPARISON GROUP: Failure to meet established/accepted diagnostic criteria and/or inability to obtain voluntary informed consent (i.e. parental consent for child with developmental delay/MR) is reason for exclusion. INCLUSION CRITERIA FOR SMS RESEARCH REGISTRY AND CORE TISSUE BANK: Individuals (male \& female, all ages and all ethnicities) with a confirmed diagnosis of SMS \& their parents who voluntarily give informed consent are eligible for inclusion. EXCLUSION CRITERIA FOR SMS RESEARCH REGISTRY AND CORE TISSUE BANK: Individuals who do not have a confirmed diagnosis of SMS. There is no exclusion based on age, gender, ethnicity or any other factor. Decisionally impaired subjects may be enrolled if the parent, legal guardian, or durable power of attorney (DPA) consents; assent will be obtained when deemed appropriate.