Smith-Lemi-Opitz Syndrome Clinical Trial
Official title:
Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
| Verified date | October 20, 2014 |
| Source | National Institutes of Health Clinical Center (CC) |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | |
| Study type | Observational |
Background:
- Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that prevents the body from making
enough cholesterol. People who have SLOS often need to take extra cholesterol, either in food
or in supplements, for their bodies to work properly. Cholesterol is very important for the
brain and nervous system. Therefore SLOS is highly related to autism, mental retardation, and
other brain and nervous system disorders. Not much is known about how people with SLOS handle
cholesterol and how taking extra cholesterol helps them. A long-term study of people with
SLOS will help answer these and other questions.
Objectives:
- To study the effects of a high-cholesterol diet on people with Smith-Lemli-Opitz syndrome.
Eligibility:
- Individuals of any age who have Smith-Lemli-Opitz syndrome.
Design:
- Participants will have study visits up to two times in the first year and once a year
every year after that. Each visit will last between 3 and 5 days.
- Participants will be screened with a physical exam, medical history, and blood and urine
tests.
- Participants will provide regular blood, urine, stool, saliva, and skin cell samples for
testing.
- Participants will keep track of the foods they eat at home. During the study, they will
eat a high-cholesterol diet at all times, except for the second study visit (3 to 6
months after the screening visit). That visit will involve a cholesterol-free diet for 4
weeks.
- Participants will have special cholesterol tests with blood samples at different times
during the study.
- At different study visits, participants will have tests of mental and physical skills
(including tests for autism). They will answer questions about their diet and food
habits. They will also have hearing and eye tests, body and bone measurements, and
imaging studies. Not all of the tests will be done at every study.
- Participants will be allowed to leave the study at any time.
| Status | Withdrawn |
| Enrollment | 0 |
| Est. completion date | October 20, 2014 |
| Est. primary completion date | |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A and older |
| Eligibility |
- INCLUSION CRITERIA: Inclusion of children: The population being studied is subjects with SLOS. Children will not be excluded, in fact, the majority of subjects being studied will be infants and children. Relatively few adults with SLOS are known. We will continue to recruit subjects of all ages from newborn to adult of both genders. Inclusion of women: Women and girls will certainly be included in the study. Women should be equally represented in this study. SLOS is an autosomal recessively inherited condition that affects males and females equally. However, since these disorders are uncommon autosomal-recessively inherited inborn errors of metabolism, STAIR investigators will have limited control over the gender mix of the study population. Inclusion of Minorities: As mentioned for gender, STAIR investigators will have limited control over the race and ethnicity mix of the study population. In order to increase the enrollment of minority subjects, with permission, we will inform the national disease support group of our studies so that subjects in other regions of the US with ethnically and racially more diverse populations may be recruited. SLOS seems to be most common in Caucasians. In the current SLOS study at OHSU, only one of the 34 SLOS subjects is Hispanic. There is only 1 report of carriers in Blacks (Nowaczyk, 2001) and only 31 cases reported in a Japanese survey. In Oregon at least, we will advertise the study at local community health clinics where large numbers of Hispanics are seen. EXCLUSION CRITERIA: |
| Country | Name | City | State |
|---|---|---|---|
| n/a | |||
| Lead Sponsor | Collaborator |
|---|---|
| Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet. 1997 Jan 31;68(3):263-9. — View Citation
Ryan AK, Bartlett K, Clayton P, Eaton S, Mills L, Donnai D, Winter RM, Burn J. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet. 1998 Jul;35(7):558-65. — View Citation
SMITH DW, LEMLI L, OPITZ JM. A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES. J Pediatr. 1964 Feb;64:210-7. — View Citation