Guanidinoacetate methyltransferase deficiency: Clinical Trials

3 trials for Guanidinoacetate methyltransferase deficiency, newest first

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1 active not recruiting, 1 unknown, 1 withdrawn. .

Follow Guanidinoacetate methyltransferase deficiency: new trials by email Literature Review of Guanidinoacetate methyltransferase deficiency trials Research Report on Guanidinoacetate methyltransferase deficiency

Trials newest first · largest first

Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.

TrialPhaseStatusSponsorEnrollmentStartUpdated
Optical Imaging as a Tool for Monitoring Brain Function in Creatine Deficiency Syndromes
Creatine Deficiency, X-linked, Creatine Deficiency Syndrome Due to Gamt Deficiency
UnknownIRCCS Fondazione Stella Maris302023-10-062024-03-05
Early Check: Expanded Screening in Newborns
Confirmatory Testing - Spinal Muscular Atrophy, Fragile X Syndrome
Active not recruitingRTI International300002018-10-152026-07-01
Biomarker for Creatine Deficiency Syndromes (BioCDS)
Intellectual Disability, Developmental Delay
WithdrawnCENTOGENE GmbH Rostock2018-08-202023-02-13

Narrower conditions

Creatine deficiency, X-linked (3)  ·  Arginine-Glycine Amidinotransferase Deficiency (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)  ·  Angelman Syndrome (1)

Broader conditions

Brain Diseases (2)  ·  Central Nervous System Diseases (2)  ·  Nervous System Diseases (2)  ·  Neurobehavioral Manifestations (2)  ·  Neurologic Manifestations (2)  ·  Pathological Conditions, Signs and Symptoms (2)  ·  Abnormalities, Multiple (1)  ·  Albinism (1)  ·  Albinism, Oculocutaneous (1)  ·  Amino Acid Metabolism, Inborn Errors (1)  ·  Anemia (1)  ·  Anemia, Hemolytic (1)  ·  Anemia, Hemolytic, Congenital (1)  ·  Aortic Valve Disease (1)  ·  Aortic Valve Stenosis (1)

Sponsors

CENTOGENE GmbH Rostock (1)  ·  IRCCS Fondazione Stella Maris (1)  ·  RTI International (1)

Countries

Egypt (1)  ·  India (1)  ·  Italy (1)  ·  Sri Lanka (1)  ·  United States (1)

Top investigators

Curt Scharfe, MD, PhD (1)  ·  Peter Bauer, Prof. (1)

Results publications

PMID 31315600, PMID 35142618