Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism

Conditions

• CHILD Syndrome
• Desmosterolosis
• Lathosterolosis
• Smith Lemli Opitz Syndrome

Eligibility Criteria

Sex

ALL

Age

1 Day - 100 Years

Healthy Volunteers

Accepted

Study Details

Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work. Objective: To learn more about SLOS and related disorders and how these diseases affect participants and relatives. Eligibility: People of any age who have or are suspected to have SLOS or another inherited disease related to cholesterol production or storage. Relatives are also needed. Design: Participants will be screened with a medical record review. Participants will have visits every 6 to 12 months. They will have a physical exam. They will fill out a survey about their medical and behavioral history. They may have an eye exam. They may have a neurodevelopmental assessment. They may have a hearing test. Their outer and middle ears may be examined. Their ability to speak, understand speech, eat, and swallow may be assessed. They may get X-rays while they chew and swallow. Their functional ability and needs for adaptive devices or braces may be assessed. They may have a lumbar puncture. Photographs may be taken of their face and body. Participants who cannot visit the NIH and relatives will have a virtual visit once a year. They will talk about their medical history and symptoms. They give blood, urine, and skin samples at a lab near their home. They will fill out a survey about their medical and behavioral history. Participation will last for several years.

Key Dates

Start date

Jun 23, 2021

Status verified

Jun 2026

Primary completion

May 31, 2031

Completion

May 31, 2031

Study Design

Enrollment

250 participants (estimated)

Arms

• Arm: 1
  Subjects with Smith-Lemli-Opitz syndrome
• Arm: 2
  Subjects with Disorders of cholesterol synthesis and metabolism

Primary Outcome Measure

The primary objective of this study is to determine laboratory or clinical outcome measures that could be used in future therapeutic trials. [ Time Frame: ongoing ]

Central Contacts

• Derek M Alexander
  (301) 827-0387
  [email protected]
• Forbes D Porter, M.D.
  (301) 435-4432
  [email protected]

Locations (1)

Find similar trials in Bethesda, MD