Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
| Status: | Recruiting |
|---|---|
| Conditions: | Gastrointestinal |
| Therapuetic Areas: | Gastroenterology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 3/31/2019 |
| Start Date: | September 19, 2002 |
| Contact: | Simona E Bianconi, M.D. |
| Email: | simona.bianconi@nih.gov |
| Phone: | (301) 496-8597 |
Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders
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.
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.
Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give
rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the
prototypical example of a post-squalene inborn error of metabolism; however, this group of
disorders now includes lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia
(CDPX2), CHILD syndrome, HEM dysplasia, and some cases of Antley-Bixler syndrome (1-3). Due
to the extremely rare occurrence of some of these disorders, the full phenotypic spectrum has
yet to be defined. Cholesterol transport in cells can also cause a disorder known as
Niemann-Pick Disease type C (NPC). NPC belongs to a group of disorders known as lysosomal
storage disorders. The purpose of this protocol is to 1) allow for the collection of
biomaterial and medical information that can be studied to gain insight into the pathological
processes; 2) allow for the collection of DNA and medical information from individuals who
have a phenotypic resemblance to known disorders of cholesterol synthesis, lysosomal storage
disorders or individuals who may be carriers of these disorders.
rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the
prototypical example of a post-squalene inborn error of metabolism; however, this group of
disorders now includes lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia
(CDPX2), CHILD syndrome, HEM dysplasia, and some cases of Antley-Bixler syndrome (1-3). Due
to the extremely rare occurrence of some of these disorders, the full phenotypic spectrum has
yet to be defined. Cholesterol transport in cells can also cause a disorder known as
Niemann-Pick Disease type C (NPC). NPC belongs to a group of disorders known as lysosomal
storage disorders. The purpose of this protocol is to 1) allow for the collection of
biomaterial and medical information that can be studied to gain insight into the pathological
processes; 2) allow for the collection of DNA and medical information from individuals who
have a phenotypic resemblance to known disorders of cholesterol synthesis, lysosomal storage
disorders or individuals who may be carriers of these disorders.
- 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
Click here to add this to my saved trials
