NCT02385162

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Trial Health

33
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Aug 2018

Typical duration for all trials

Geographic Reach
3 countries

4 active sites

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 2, 2015

Completed
9 days until next milestone

First Posted

Study publicly available on registry

March 11, 2015

Completed
3.4 years until next milestone

Study Start

First participant enrolled

August 20, 2018

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 28, 2021

Completed
Last Updated

February 13, 2023

Status Verified

February 1, 2023

Enrollment Period

2.5 years

First QC Date

March 2, 2015

Last Update Submit

February 9, 2023

Conditions

Fructose Metabolism, Inborn ErrorsGlycogen Storage DiseaseGlycogen Storage Disease Type IGlycogen Storage Disease Type IIGlycogen Storage Disease Type IIIGlycogen Storage Disease Type IVGlycogen Storage Disease Type VGlycogen Storage Disease Type VIGlycogen Storage Disease Type VIIGlycogen Storage Disease Type VIII

Keywords

MucolipidosesMetabolic DiseasesLysosomal Storage Diseases

Outcome Measures

Primary Outcomes (1)

  • Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen storage disease using the technique of Mass-spectometry 7,5 ml EDTA blood, saliva tube and a dry blood spot filter card

    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.

    24 months

Secondary Outcomes (1)

  • Testing for clinical robustness, specificity and long-term stability of the biomarker

    36 months

Study Arms (1)

Observation

Patients with a diagnosis of Glycogen storage diseases based upon biochemical and/or genetic criteria or profound suspicion for Glycogen storage disease

Eligibility Criteria

Age2 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with a diagnosis of glycogen storage disease or profound suspicion for glycogen storage disease

You may qualify if:

  • Informed consent will be obtained from the parents before any study related procedures.
  • Patients of both genders older than 2 month
  • The patient has a diagnosis of glycogen storage disease or a high-grade suspicion for glycogen storage disease
  • Positive family anamnesis for glycogen storage disease
  • Hypoglycemia
  • Growth retardation: short stature, skeletal myopathy
  • Hepatomegaly, Splenomegaly
  • Myopathy with muscle weakness
  • cardiomyopathy

You may not qualify if:

  • No Informed consent from the parents before any study related procedures
  • Patients of both genders younger than 2 month
  • No diagnosis of glycogen storage disease or no valid criteria for high-grade suspicion of glycogen storage disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Centogene AG

Rostock, 18055, Germany

Location

Amrita Institute of Medical Sciences & Research Centre

Kochi, Kerala, 682041, India

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

Für die Entwicklung neuer Biomarker mittels Massenspektrometrie werden 10ml EDTA-Blut und eine Filterkarte mit Trockenblutspots benötigt. Um die korrekte Diagnose für Glykogenosen bei den Patienten zu beweisen, bei denen bis zum Studieneinschluss noch keine genetische Diagnostik vorlag, werden die entsprechenden Sequenzierungen für den Nachweis der Glykogenosen erfolgen. Die Analysen werden von dem Labor Centogene AG pseudonymisiert durchgeführt. CENTOGENE AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Fructose Metabolism, Inborn ErrorsGlycogen Storage DiseaseGlycogen Storage Disease Type IGlycogen Storage Disease Type IIGlycogen Storage Disease Type IIIGlycogen Storage Disease Type IVGlycogen Storage Disease Type VGlycogen Storage Disease Type VIGlycogen Storage Disease Type VIIGlycogen Storage Disease Type VIIIMucolipidosesMetabolic DiseasesLysosomal Storage Diseases

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNutritional and Metabolic DiseasesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMuscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesGenetic Diseases, X-LinkedBone Diseases, MetabolicBone Diseases

Study Officials

  • Peter Bauer, Prof.

    Centogene GmbH

    STUDY CHAIR
0

Study Design

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

Study Record Dates

First Submitted

March 2, 2015

First Posted

March 11, 2015

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(2)SR(1)DE(1)