Viewing Study NCT02934854



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Last Modification Date: 2024-10-26 @ 12:11 PM
Study NCT ID: NCT02934854
Status: WITHDRAWN
Last Update Posted: 2023-02-13
First Post: 2016-09-19

Brief Title: Biomarker for Creatine Deficiency Syndromes BioCDS
Sponsor: CENTOGENE GmbH Rostock
Organization: CENTOGENE GmbH Rostock

Study Overview

Official Title: Biomarker for Creatine Deficiency Syndromes An International Multicenter Epidemiological Study
Status: WITHDRAWN
Status Verified Date: 2023-02
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Transition into BioMetabol
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: BioCDS
Brief Summary: Development of a new mass spectrometry-based biomarker for the ear-ly and sensitive diagnosis of the Creatine Deficiency Syndromes from dry-blood-spot sample
Detailed Description: The Creatine Deficiency Syndromes CDS are a group of inborn errors of metabolism which interrupt the biosynthesis or transportation of creatine Individuals with CDS classically present neurological symptoms seizures movement disorders and myopathy and behavioral manifestations This group includes two creatine biosynthesis disorders Guanidinoacetate Methyltransferase Deficiency and L-Arginine Glycine Amidinotransferase Deficiency as well as X-linked Creatine Transporter Deficiency

Guanidinoacetate Methyltransferase Deficiency

Guanidinoacetate Methyltransferase Deficiency is inherited in an autosomal recessive manner and is caused by biallelic mutations in the GAMT gene This gene maps to 19p133 and is involved in the biosynthesis of creatine Individuals with this deficiency typically present with severe intellectual disabilities and seizure disorders which may be resistant to drug therapy Behavioral problems including autistic behaviors and self-mutilation are common and pyramidalextrapyramidal symptoms affect about one-half of patients Dietary management via manipulation of critical amino acids may improve clinical outcome Mutations in the GAMT gene are a relatively rare cause of creatine deficiency syndrome

L-Arginine Glycine Amidinotransferase Deficiency

L-Arginine Glycine Amidinotransferase Deficiency is a very rare type of CDS characterized by global developmental delay appearing in infancy which can be associated with language impairment and autistic behavior in some as well as a mild to moderate intellectual disability Progressive muscle weakness and fatigability have been reported in older patients Seizures and failure to thrive have also been described If creatine supplementation is administered early enough psychomotor delay may be avoided This deficiency is caused by mutations in GATM gene located to chromosome 15q151 This gene encodes the enzyme L-Arginine Glycine Amidinotransferase which converts arginine and glycine to ornithine and guanidinoacetate in the creatine cycle pathway This deficiency is transmitted in an autosomal recessive manner

X-linked Creatine Transporter Deficiency

X-linked Creatine Transporter Deficiency is a creatine deficiency syndrome characterized clinically by global developmental delay intellectual disability with prominent speechlanguage delay autistic behavior and seizures Affected individuals may present low weight gain muscular hypotonia and poor muscle mass Subtle dysmorphic features such as midface hypoplasia long face and prominent chin have been reported in various affected male patients In adult patients cardiac and gastrointestinal disorders have been reported The onset of symptoms occurs during infancy usually before the age of 2 years Males are mainly affected but females can also have various degrees of severity of disease manifestations This deficiency has been reported in more than 150 individuals worldwide and is mostly due to frameshift and splicing mutations in the creatine transporter gene SLC6A8 Xp28

New methods like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier with a higher sensitivity and specificity

Therefore it is the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: False
Is a FDA Regulated Device?: False
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None