Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease (VICTORIA)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04120168
Recruitment Status : Recruiting
First Posted : October 9, 2019
Last Update Posted : October 9, 2019
Sponsor:
Information provided by (Responsible Party):
Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition

Brief Summary:

This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study.

Demographic data, medical and family histories of the patients included in the study will be collected at the first admission. The following laboratory values of the patients will be collected:

  • Alanine Transaminase (ALT)
  • Aspartate Transaminase (AST)
  • Gamma Glutamyl Transferase (GGT)
  • Creatine Phosphokinase (CPK)
  • In addition, physical examination information and Abdominal USG and Liver Biopsy Results, if any, will be collected. Following the above scans, enzyme analysis for late-onset Pompe disease in boys and girls and adolescents with high CPK levels and molecular genetic tests for Duchenne muscular dystrophy in boys and adolescents with high CPK levels will be performed.

Condition or disease Intervention/treatment
Duchenne Muscular Dystrophy Pompe Disease (Late-onset) Genetic: Laboratory Tests

Layout table for study information
Study Type : Observational [Patient Registry]
Estimated Enrollment : 1500 participants
Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration: 3 Months
Official Title: Multicenter Non-Drug Screening Study to Determine the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease in Children With Unexplained Transaminase Elevation
Actual Study Start Date : April 1, 2019
Estimated Primary Completion Date : March 2020
Estimated Study Completion Date : March 2020


Group/Cohort Intervention/treatment
DMD and Pompe Disease Cohort
The aim of this study gropu was to determine the frequency of Duchenne muscular dystrophin in boys and adolescents with unexplained transaminase elevation for at least 3 months and in late onset Pompe disease in girls and boys and to determine the demographic and clinical characteristics of these patients.
Genetic: Laboratory Tests
  • Acid Alpha IgGlucosidase alpha enzyme test for Late Onset Pompe Disease and gene sequencing test from the same sample in samples with low enzyme activity
  • Genetic Analysis for DMD (only in boys): Detection of dystrophin gene for duplication and deletion with MLPA (Multiplex-ligation dependent probe amplification) and re-screening for other mutations by gene sequencing in patients without MLPA deletion / duplication.




Primary Outcome Measures :
  1. Frequency of Duchenne muscular dystrophin in boys and adolescents [ Time Frame: 1 year ]
    The endpoints of the study were to determine the frequency of Duchenne muscular dystrophin in boys and adolescents with unexplained transaminase elevation for at least 3 months and in late onset Pompe disease in girls and boys and to determine the demographic and clinical characteristics of these patients.


Biospecimen Retention:   Samples With DNA
  • Acid Alpha IgGlucosidase alpha enzyme test for Late Onset Pompe Disease and gene sequencing test from the same sample in samples with low enzyme activity
  • Genetic Analysis for DMD (only in boys): Detection of dystrophin gene for duplication and deletion with MLPA (Multiplex-ligation dependent probe amplification) and re-screening for other mutations by gene sequencing in patients without MLPA deletion / duplication.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   3 Months to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Boys and girls with unexplained transaminase elevation for at least 3 months
Criteria

Inclusion Criteria:

  • 3 months -18 years old boys and girls
  • Serum transaminase levels (serum ALT and / or AST levels> 1.52 upper limit of normal (ULN)) for at least 3 months
  • The willingness of the patient and / or legal representative to sign the written consent form

Exclusion Criteria:

  • Patients less than 3 months
  • Patients with a known history of liver disease
  • Patients with a known history of muscle disease
  • Patients with a known history of rheumatologic disease
  • Patients with clinical history or physical examination findings that support the possibility of liver disease (Jaundice, variceal bleeding, hepatomegaly, splenomegaly, ascites)
  • ICU patients
  • Patients with known congenital anomalies
  • Patients with organ failure
  • Patients with elevated serum GGT, Total Bliribun or Direct Bilirubin levels

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04120168


Contacts
Layout table for location contacts
Contact: Gülden Ortac 00905333955948 guldeno@klinar-cro.com

  Show 51 Study Locations
Sponsors and Collaborators
Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition

Layout table for additonal information
Responsible Party: Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition
ClinicalTrials.gov Identifier: NCT04120168     History of Changes
Other Study ID Numbers: VICTORIA
First Posted: October 9, 2019    Key Record Dates
Last Update Posted: October 9, 2019
Last Verified: October 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition:
CPK
Transaminase
DMD
Pompe
Additional relevant MeSH terms:
Layout table for MeSH terms
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Glycogen Storage Disease Type II
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Metabolism, Inborn Errors
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases