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Results for “Smith-Lemli-Opitz Syndrome”

20 trials

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Showing 20 of 20 results

Not applicableWithdrawnNCT01413425
What this trial is testing

A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome

Who this might be right for
Smith-Lemi-Opitz Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Not applicableEnded earlyNCT01356420
What this trial is testing

Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome

Who this might be right for
Smith-Lemli-Opitz Syndrome
Oregon Health and Science University 21
Not applicableStudy completedNCT05687474
What this trial is testing

Baby Detect : Genomic Newborn Screening

Who this might be right for
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more
Centre Hospitalier Universitaire de Liege 6,824
Not applicableStudy completedNCT00070850
What this trial is testing

Prenatal Screening For Smith-Lemli-Opitz Syndrome

Who this might be right for
Smith-Lemli-Opitz SyndromePregnancy
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 1,800
Testing effectiveness (Phase 2)Study completedNCT03720990
What this trial is testing

Smith-Lemli-Opitz Syndrome and Cholic Acid

Who this might be right for
Smith-Lemli-Opitz Syndrome
University of Nebraska 12
Not applicableEnrolling By InvitationNCT03655223
What this trial is testing

Early Check: Expanded Screening in Newborns

Who this might be right for
Spinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more
RTI International 30,000
Testing effectiveness (Phase 2)WithdrawnNCT01110642
What this trial is testing

Novel Treatment for Syndromic Ichthyoses

Who this might be right for
Syndromic IchthyosesCHILD SyndromeSmith Lemli Opitz Syndrome+1 more
Northwestern University
Testing effectiveness (Phase 2)Study completedNCT00965068
What this trial is testing

Cholesterol in ASD: Characterization and Treatment

Who this might be right for
AutismAsperger DisorderPDD-NOS
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 44
Testing effectiveness (Phase 2)Study completedNCT00114634
What this trial is testing

Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome

Who this might be right for
Smith-Lemli-Opitz Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 13
Large-scale testing (Phase 3)Not Yet RecruitingNCT07218575
What this trial is testing

Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations

Who this might be right for
Cowden's DiseaseCowden's SyndromeLhermitte-Duclos Disease+6 more
Boston Children's Hospital 60
Not applicableStudy completedNCT00001721
What this trial is testing

Study of Smith-Lemli-Opitz Syndrome

Who this might be right for
Smith-Lemli-Opitz Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 130
Testing effectiveness (Phase 2)UnknownNCT00004347
What this trial is testing

Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome

Who this might be right for
Smith-Lemli-Opitz Syndrome
National Center for Research Resources (NCRR) 5
Not applicableStudy completedNCT00017732
What this trial is testing

Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans

Who this might be right for
Smith-Lemli-Opitz Syndrome
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 2,000
Testing effectiveness (Phase 2)Study completedNCT00272844
What this trial is testing

Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

Who this might be right for
Smith-Lemli-Opitz Syndrome
Boston Children's Hospital 23
Not applicableStudy completedNCT05642221
What this trial is testing

Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

Who this might be right for
Juvenile Neuronal Ceroid LipofuscinosisSmith-Lemli-Opitz SyndromeCreatine Transporter Deficiency+1 more
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 73
Not applicableLooking for participantsNCT05047354
What this trial is testing

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

Who this might be right for
Smith Lemli Opitz SyndromeCHILD SyndromeLathosterolosis+1 more
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 250
Testing effectiveness (Phase 2)Study completedNCT00064792
What this trial is testing

Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

Who this might be right for
Smith-Lemli-Opitz Syndrome
Forbes Porter, M.D. 23
Not applicableEnded earlyNCT01434745
What this trial is testing

SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

Who this might be right for
Smith-Lemli-Opitz Syndrome
Oregon Health and Science University 1
Testing effectiveness (Phase 2)Looking for participantsNCT01773278
What this trial is testing

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)

Who this might be right for
Smith-Lemli-Opitz SyndromeCone-Rod DystrophyHearing Loss
University of Colorado, Denver 100
Testing effectiveness (Phase 2)Ended earlyNCT01464164
What this trial is testing

Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia

Who this might be right for
Diamond Blackfan Anemia
Northwell Health 19