Bethesda, MDNCT05047354Now EnrollingIRB Ready

Smith Lemli Opitz Syndrome Clinical Trial in Bethesda, MD

Access cutting-edge smith lemli opitz syndrome treatment through this clinical trial at a research site in Bethesda. Study-provided care at no cost to qualified participants.

Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

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Expert Care in Bethesda

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IRB Approved

This study follows strict safety protocols and ethical guidelines

No-Cost Care

All study-related smith lemli opitz syndrome treatment provided free

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Why Participate?

  • No-Cost Study Care

  • Local to Bethesda

    Convenient for MD residents

  • Cutting-Edge Treatment

    Access to innovative therapies

  • Expert Medical Care

    Close monitoring by specialists

  • Possible Compensation*

    For time and travel

*Compensation varies by study. Confirm details with coordinator.

Simple Process

  1. 1Submit this form
  2. 2Phone screening
  3. 3Visit Bethesda site if eligible
  4. 4Begin participation

About This Smith Lemli Opitz Syndrome Study in Bethesda

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.

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Who Can Participate

Inclusion Criteria

Males or females of any age with any one of the following:
Clinical, biochemical, or genetic diagnosis of Smith-Lemli-Opitz Syndrome OR
Clinical, biochemical, or genetic diagnosis of desmosterolosis, lathosterolosis, CHILD syndrome, X-linked dominant chondrodysplasia type2 or another inborn error of cholesterol synthesis OR
Clinical suspicion of an inborn error of cholesterol synthesis, metabolism or impaired cholesterol homeostasis. Clinical observations may include, but are not limited to lipid-laden macrophages, abnormal LDL, HDL, total cholesterol, triglycerides, abnormal lipid electrophoresis, lipid storage in other tissues. OR -Biologic parents of affected individuals or known carriers based on previously done genetic testing who are willing and able to provide samples of any or all of the following: blood, urine, a skin biopsy, and/or tissue derived from clinically indicated surgery or autopsy.

Exclusion Criteria

Affected individuals who cannot travel to the NIH because of their medical condition will be excluded from on-site participation. They may participate in the telemedicine or in the biomaterials parts of the study.
Affected individuals who, in the opinion of the investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation will be excluded from on-site participation. They may participate in the telemedicine or in the biomaterials parts of the study.
Carrier adults who are unable to or unwilling to provide any of the following samples: Blood, urine, skin biopsy sample or tissue derived from clinically indicated surgery or skin biopsy.
Female participants who are pregnant will be excluded from evaluations requiring sedation, radiation and LP. Total blood draw volumes will be kept at a minimum or if anemia of pregnancy is known, no blood will be taken for research testing.

Not sure if you qualify? Submit your interest and a study coordinator will help determine your eligibility.

Frequently Asked Questions

Q:Is this study available in Bethesda?

Yes, this clinical trial (NCT05047354) has an active research site in Bethesda, MD that is currently enrolling participants.

Q:Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.

Q:Will I be compensated?

Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.

Q:Can I leave the trial if I change my mind?

Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.

Still have questions? Our study coordinators are here to help.

Smith Lemli Opitz Syndrome Treatment Options in Bethesda, MD

If you're searching for smith lemli opitz syndrome treatment options in Bethesda, MD, this clinical trial (NCT05047354) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.

Our Bethesda research site is actively enrolling participants for this clinical trial. You'll receive care from experienced smith lemli opitz syndrome specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.

Looking for more options? Browse all smith lemli opitz syndrome clinical trials near you to find additional studies recruiting in your area.

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