7 completed, 3 terminated, 3 unknown, 2 active not recruiting. 9 Not applicable, 2 Phase 4, 1 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 9 | Completed 4, Recruiting 2, Active not recruiting 1, Not yet recruiting 1, Terminated 1 |
| Phase 4 | 2 | Completed 2 |
| Phase 3 | 1 | Unknown 1 |
Follow Creatine deficiency, X-linked: new trials by email Literature Review of Creatine deficiency, X-linked trials Research Report on Creatine deficiency, X-linked
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 |
| Clinical Prospective ranDomized Trial to Evaluate the Non-inferiority of Left Bundle Branch Area Pacing Vs Cardiac ResynchronIzatioN Therapy With ECG guIded AV Optimization Pacemaker and defibrillator - Heart Failure | Not applicable | Not yet recruiting | Leonardo Calò, MD | 194 | 2025-10-30 | 2025-08-06 |
| Optical Imaging as a Tool for Monitoring Brain Function in Creatine Deficiency Syndromes Creatine Deficiency, X-linked, Creatine Deficiency Syndrome Due to Gamt Deficiency | Unknown | IRCCS Fondazione Stella Maris | 30 | 2023-10-06 | 2024-03-05 | |
| Web Intervention for Parents of Youth With Genetic Syndromes (WINGS) Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual - Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis | Not applicable | Active not recruiting | Rush University Medical Center | 79 | 2023-09-15 | 2026-09-18 |
| Relevant Outcome Measures for Creatine Transporter Deficiency Patient Clinical endpoints, Parental questionnaires, Quality of life scale - Creatine Transporter Defect | Not applicable | Recruiting | Hospices Civils de Lyon | 197 | 2023-03-13 | 2026-05-27 |
| 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 | |
| Transcranial Direct Current Stimulation and Cognitive Remediation Therapy for Psychosis tDCS - Psychosis | Not applicable | Completed | University of Minnesota | 33 | 2019-03-14 | 2025-03-12 |
| 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 | |
| Biomarker for Creatine Deficiency Syndromes (BioCDS) Intellectual Disability, Developmental Delay | Withdrawn | CENTOGENE GmbH Rostock | 2018-08-20 | 2023-02-13 | ||
| Clinical Evaluation of LEft VEntricular Auto Threshold Algorithm (LEVEA) "In-Clinic LVAT" - Heart Failure | Not applicable | Completed | LivaNova | 60 | 2017-02-16 | 2019-05-28 |
| Observational Study of Males With Creatine Transporter Deficiency Creatine Deficiency, X-linked | Terminated | Ultragenyx Pharmaceutical Inc | 50 | 2016-12-01 | 2022-11-14 | |
| SJM MRI Diagnostic Imaging Registry (IDE) Pacemaker, ICD, or CRT device - Cardiac Arrhythmia | Not applicable | Completed | Abbott Medical Devices | 189 | 2016-06-01 | 2019-08-26 |
| Prospective Study on Prognosis of Cardiac Resynchronized Therapy (CRT), Implantable Cardioverter Defibrillator (ICD) Implantation in Patients With Congestive Heart Failure (CHF) ICD/CRT - Congestive Heart Failure | Unknown | Yonsei University | 1000 | 2014-04-01 | 2019-12-03 | |
| UNcovering the Difference Between Ranibizumab and Aflibercept, Focusing on Systemic Anti-vascular Endothelial Growth Factor (VEGF) Effects in Patients With neovascuLar Age-related Macular Degeneration (AMD) Neovascular Age-related Macular Degeneration - Neovacular Age-related Macular Degeneration | Phase 4 | Completed | Novartis Pharmaceuticals | 205 | 2014-04-01 | 2017-05-03 |
| MOre REsponse on Cardiac Resynchronization Therapy With MultiPoint Pacing MPP - Heart Failure | Not applicable | Terminated | Abbott Medical Devices | 5850 | 2013-12-01 | 2023-05-17 |
| Heart Failure and Risk of Re-Admissions Determined by Abnormal REVEAL Parameters Heart Failure | Terminated | Thomas Jefferson University | 40 | 2011-05-01 | 2013-01-07 | |
| Torsion Optimization to Reduce Symptoms and Improve Outcomes in Non-responders Torsion optimized, Usual Care - Heart Failure, Congestive | Phase 3 | Unknown | University of Calgary | 60 | 2009-03-01 | 2015-11-24 |
| Cardiac Resynchronisation Therapy in Combination With Overdrive Pacing in the Treatment of Central Sleep Apnea in CHF CRT + AOP - Heart Failure, Central Sleep Apnea | Phase 4 | Completed | Medtronic Cardiac Rhythm and Heart Failure | 44 | 2005-06-01 | 2025-07-03 |
| Care-HF CArdiac Resynchronization in Heart Failure Implantable Cardiac Resynchronisation (pacing) device - Heart Failure | Not applicable | Completed | Medtronic Cardiac Rhythm and Heart Failure | 813 | 2001-01-01 | 2025-07-03 |
Heart Failure (8) · Fragile X Syndrome (3) · Guanidinoacetate methyltransferase deficiency (3) · Angelman Syndrome (2) · Arginine-Glycine Amidinotransferase Deficiency (2) · Intellectual Disability (2) · Learning Disabilities (2) · Niemann-Pick Disease, Type A (2) · Rett Syndrome (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)
Cardiovascular Diseases (10) · Heart Diseases (10) · Nervous System Diseases (7) · Neurobehavioral Manifestations (5) · Neurologic Manifestations (5) · Central Nervous System Diseases (4) · Congenital Abnormalities (4) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (4) · Genetic Diseases, Inborn (4) · Heredodegenerative Disorders, Nervous System (4) · Mental Disorders (4) · Pathological Conditions, Signs and Symptoms (4) · Abnormalities, Multiple (3) · Brain Diseases (3) · Chromosome Disorders (3)
Defibrillators (1) · Defibrillators, Implantable (1) · Mental Status and Dementia Tests (1) · Ranibizumab (1) · Transcranial Direct Current Stimulation (1) · aflibercept (1)
Abbott Medical Devices (2) · Hospices Civils de Lyon (2) · Medtronic Cardiac Rhythm and Heart Failure (2) · CENTOGENE GmbH Rostock (1) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (1) · IRCCS Fondazione Stella Maris (1) · Leonardo Calò, MD (1) · LivaNova (1) · Novartis Pharmaceuticals (1) · RTI International (1) · Rush University Medical Center (1) · Thomas Jefferson University (1) · Ultragenyx Pharmaceutical Inc (1) · University of Calgary (1) · University of Minnesota (1)
United States (8) · France (4) · Canada (3) · Italy (3) · South Korea (3) · Germany (2) · India (2) · Israel (2) · Malaysia (2) · Singapore (2) · Taiwan (2) · Australia (1) · Austria (1) · Belgium (1) · China (1)
Christophe Leclercq (1) · Curt Scharfe, MD, PhD (1) · Derek V Exner, MD, MPH (1) · Forbes D Porter, M.D. (1) · Grant Kim (1) · Ian S Ramsay, PhD (1) · Jacques Mansourati, Pr (1) · John Cleland, Professor (1) · Peter Bauer, Prof. (1) · S Andreas, Prof. Dr (1)
PMID 18672164, PMID 23541971, PMID 23900696, PMID 29314424, PMID 30616009, PMID 30859220, PMID 31315600, PMID 35142618, PMID 35490339, PMID 36721240, PMID 41260060