1 active not recruiting, 1 completed, 1 recruiting. 1 Not applicable.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 1 | Recruiting 1 |
Follow Creatine Transporter Deficiency: new trials by email Literature Review of Creatine Transporter Deficiency trials Research Report on Creatine Transporter Deficiency
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Optical Imaging in X-linked Disorders. Clinical assessment, Parental questionnaires, Cognitive assessment - Fragile X Syndrome (FXS), Creatine Transporter Deficiency | Not applicable | Recruiting | Hospices Civils de Lyon | 118 | 2026-03-30 | 2026-05-15 |
| Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome | Completed | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 73 | 2023-01-23 | 2026-10-13 | |
| Early Check: Expanded Screening in Newborns Confirmatory Testing - Spinal Muscular Atrophy, Fragile X Syndrome | Active not recruiting | RTI International | 30000 | 2018-10-15 | 2026-07-01 |
Creatine deficiency, X-linked (3) · Fragile X Syndrome (2) · Niemann-Pick Disease, Type A (2) · Smith-Lemli-Opitz Syndrome (2) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (1) · 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (1) · 3-methylcrotonyl CoA carboxylase 1 deficiency (1) · 3-methylcrotonyl CoA carboxylase 2 deficiency (1) · Acidemia, isovaleric (1) · Acrodermatitis enteropathica (1) · Adenine phosphoribosyltransferase deficiency (1) · Adrenal hyperplasia, congenital, type 5 (1) · Adrenocorticotropic hormone deficiency (1) · Amaurosis congenita of Leber, type 2 (1) · Anemia, Sickle Cell (1)
Congenital Abnormalities (3) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (3) · Genetic Diseases, Inborn (3) · Heredodegenerative Disorders, Nervous System (3) · Nervous System Diseases (3) · Abnormalities, Multiple (2) · Brain Diseases (2) · Brain Diseases, Metabolic (2) · Brain Diseases, Metabolic, Inborn (2) · Central Nervous System Diseases (2) · Chromosome Disorders (2) · Dyslipidemias (2) · Genetic Diseases, X-Linked (2) · Hemic and Lymphatic Diseases (2) · Histiocytosis (2)
Mental Status and Dementia Tests (1)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (1) · Hospices Civils de Lyon (1) · RTI International (1)
United States (2) · France (1)
Curt Scharfe, MD, PhD (1) · Forbes D Porter, M.D. (1)