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Results for “Creatine Transporter Deficiency”

8 trials

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Showing 8 of 8 results

Not applicableLooking for participantsNCT06018519
What this trial is testing

Relevant Outcome Measures for Creatine Transporter Deficiency Patient

Who this might be right for
Creatine Transporter Defect
Hospices Civils de Lyon 197
Not applicableEnded earlyNCT02931682
What this trial is testing

Observational Study of Males With Creatine Transporter Deficiency

Who this might be right for
Creatine Deficiency, X-linked
Ultragenyx Pharmaceutical Inc 50
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 participantsNCT05600946
What this trial is testing

Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency

Who this might be right for
Cognitive DisorderMetabolic DiseaseAutism Spectrum Disorder
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 19
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 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
Not applicableNot Yet RecruitingNCT06868979
What this trial is testing

Optical Imaging in X-linked Disorders.

Who this might be right for
Fragile X Syndrome (FXS)Creatine Transporter Deficiency
Hospices Civils de Lyon 88
Not applicableWithdrawnNCT02934854
What this trial is testing

Biomarker for Creatine Deficiency Syndromes (BioCDS)

Who this might be right for
Intellectual DisabilityDevelopmental DelayMovement Disorder+2 more
CENTOGENE GmbH Rostock