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

NCT04120168 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 590

Last updated 2022-10-24

No results posted yet for this study

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.

Conditions

Interventions

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.

Sponsors & Collaborators

  • Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition

    lead OTHER

Eligibility

Min Age
3 Months
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-04-01
Primary Completion
2022-01-30
Completion
2022-10-21

Countries

  • Turkey (Türkiye)

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04120168 on ClinicalTrials.gov