NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

02-CH-0311

Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: N/A
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Inborn Error of Cholesterol Synthesis;
Cholesterol;
Lysosomal Storage;
Natural History

Recruitment Keyword(s)

Inborn Errors of Cholesterol Synthesis;
Smith-Lemli-Optiz Syndrome;
Lathosterolosis;
Desmosterols;
CHILD Syndrome;
Greenberg Dysplasia;
X Linked Dominant Chrondrodysplasia

Condition(s)

Lysosomal Storage Disease;
cholesterol metabolism

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Child Health and Human Development

This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems.

People with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia, CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome, may be eligible for this study. People who are carriers of the disorders also may enroll.

Participants and family members will provide blood and urine samples, as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery. These tissues may include, for example, gallstones, cataracts, cerebrospinal fluid, amniotic fluid, lymph tissue, and DNA samples. In rare instances, a skin biopsy may be requested to aid in establishing a diagnosis.

Medical information will also be gathered from medical records, photographs, and X-rays.

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Eligibility

INCLUSION CRITERIA:

Subjects will be eligible for this study if they have or are suspected to have an inborn error of cholesterol synthesis or if they are related to a proband with a suspected inborn error of cholesterol synthesis. No exclusions will be made based on gender, ethnicity or age.


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Citations:

Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet. 2000 May;37(5):321-35.

Nwokoro NA, Wassif CA, Porter FD. Genetic disorders of cholesterol biosynthesis in mice and humans. Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19.

Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Miller Wolf L, Jabs EW. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am J Med Genet. 2002 Jun 15;110(2):95-102.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Forbes D. Porter, M.D.
National Institute of Child Health and Human Development (NICHD)
NIHBC 10 - CRC BG RM 5-2571
10 CENTER DR
BETHESDA MD 20892
(301) 435-4432
fdporter@mail.nih.gov

Nicole M. Farhat, C.R.N.P.
National Institute of Child Health and Human Development (NICHD)
BG 6001 EXECUTIVE BLVD NSC RM CORR5.4
6001 EXECUTIVE BLVD
ROCKVILLE MD 20852
(301) 496-9135
nicole.farhat@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT00046202

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NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

02-CH-0311

Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: N/A
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Inborn Error of Cholesterol Synthesis;
Cholesterol;
Lysosomal Storage;
Natural History

Recruitment Keyword(s)

Inborn Errors of Cholesterol Synthesis;
Smith-Lemli-Optiz Syndrome;
Lathosterolosis;
Desmosterols;
CHILD Syndrome;
Greenberg Dysplasia;
X Linked Dominant Chrondrodysplasia

Condition(s)

Lysosomal Storage Disease;
cholesterol metabolism

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Child Health and Human Development

This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems.

People with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia, CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome, may be eligible for this study. People who are carriers of the disorders also may enroll.

Participants and family members will provide blood and urine samples, as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery. These tissues may include, for example, gallstones, cataracts, cerebrospinal fluid, amniotic fluid, lymph tissue, and DNA samples. In rare instances, a skin biopsy may be requested to aid in establishing a diagnosis.

Medical information will also be gathered from medical records, photographs, and X-rays.

--Back to Top--

Eligibility

INCLUSION CRITERIA:

Subjects will be eligible for this study if they have or are suspected to have an inborn error of cholesterol synthesis or if they are related to a proband with a suspected inborn error of cholesterol synthesis. No exclusions will be made based on gender, ethnicity or age.


--Back to Top--

Citations:

Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet. 2000 May;37(5):321-35.

Nwokoro NA, Wassif CA, Porter FD. Genetic disorders of cholesterol biosynthesis in mice and humans. Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19.

Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Miller Wolf L, Jabs EW. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am J Med Genet. 2002 Jun 15;110(2):95-102.

--Back to Top--

Contacts:

Principal Investigator

Referral Contact

For more information:

Forbes D. Porter, M.D.
National Institute of Child Health and Human Development (NICHD)
NIHBC 10 - CRC BG RM 5-2571
10 CENTER DR
BETHESDA MD 20892
(301) 435-4432
fdporter@mail.nih.gov

Nicole M. Farhat, C.R.N.P.
National Institute of Child Health and Human Development (NICHD)
BG 6001 EXECUTIVE BLVD NSC RM CORR5.4
6001 EXECUTIVE BLVD
ROCKVILLE MD 20852
(301) 496-9135
nicole.farhat@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT00046202

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