Biomarker for Creatine Deficiency Syndromes (BioCDS)

NCT02934854 | Withdrawn

• 1 other identifier: BCDS 06-2018
• Study Type: observational
• Target: N/A
• Locations: 3 countries
• Sites: 4

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

Conditions

Intellectual Disability; Developmental Delay; Movement Disorder; Behavioral Disorder; Intractable Epilepsy

Keywords

Creatine Transporter Deficiency (CTD); Guanidinoacetate Methyltransferase Deficiency (GAMT); Arginine: Glycine Amidinotransferase Deficiency (AGAT); Biomarker

Outcome Measures

Primary Outcomes (1)

• Sequencing of the Creatine Deficiency Syndromes related genes

  Next-Generation Sequencing (NGS) of the genes SLC6A8, GAMT, and GATM will be performed. The mutation will be confirmed by Sanger sequencing.

  4 weeks

Secondary Outcomes (1)

• The Creatine Deficiency Syndromes specific biomarker candidates finding

  24 months

Study Arms (1)

Observation

Patients with the Creatine Deficiency Syndromes or high-grade suspicion for the Creatine Deficiency Syndromes

Eligibility Criteria

• Age: 2 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with the Creatine Deficiency Syndromes or high-grade suspicion for the Creatine Deficiency Syndromes

You may qualify if:

• Informed consent will be obtained from the patient or the parents before any study related procedures.
• Patients of both genders older than 2 months
• The patient has a diagnosis of the Creatine Deficiency Syndromes or a high-grade suspicion for the Creatine Deficiency Syndromes
• Positive family anamnesis for the Creatine Deficiency Syndromes
• Intellectual disability
• Seizure disorder of variable severity
• Developmental delay
• Speech/language delay
• Movement disorder
• Behavioral disorder (autism, hyperactivity, self-injury)
• Intractable epilepsy

You may not qualify if:

• No Informed consent from the patient or the parents before any study related procedures.
• Patients of both gender younger than 2 months
• No diagnosis of Creatine Deficiency Syndromes or no valid criteria for profound suspicion of the Creatine Deficiency Syndromes

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (4)

Ain Shams University, Medical Genetics Center

Cairo, Egypt

Location

Chindren's hospital, Faculty of Medicine, Ain Shams University

Cairo, Egypt

Location

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Mumbai, 400705, India

Location

Lady Ridgeway Hospital for Children

Colombo, 00800c, Sri Lanka

Location

Biospecimen

Retention: SAMPLES WITH DNA

For the development of the new biomarkers using the technique of Mass-spectrometry, maximal 7,5 ml of blood will be taken via using a dry blood spot filter card. To proof the correct Creatine Deficiency Syndromes diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Creatine Deficiency Syndromes will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Intellectual Disability; Learning Disabilities; Movement Disorders; Mental Disorders; Drug Resistant Epilepsy; Creatine deficiency, X-linked; Guanidinoacetate methyltransferase deficiency; Arginine-Glycine Amidinotransferase Deficiency

Condition Hierarchy (Ancestors)

Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Communication Disorders; Central Nervous System Diseases; Epilepsy; Brain Diseases

Study Officials

• Peter Bauer, Prof.

  Centogene GmbH

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 19, 2016
• First Posted: October 17, 2016
• Study Start: August 20, 2018
• Primary Completion: February 28, 2021
• Study Completion: February 28, 2021
• Last Updated: February 13, 2023

Record last verified: 2023-02

Locations

IN (1); EG (2); SR (1)