Duchenne Muscular DystrophyVICTORIANCT04120168
Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease
An observational study of Duchenne Muscular Dystrophy and Pompe Disease (Late-onset), run by Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition at 51 sites in Turkey (Türkiye).
Trial 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. Read more about this study
- Who is it for?
- Ages 3 months to 18 years
- Conditions the study is for
- Duchenne Muscular Dystrophy, Pompe Disease (Late-onset)
- What is being tested?
- Laboratory Tests
- How many people
- 590 participants
- Where
- 51 sitesTurkey (Türkiye)
- Study dates
- 1 Apr 2019to 21 Oct 2022
- How long will I take part?
- 3 Months
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 months to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Boys and girls with unexplained transaminase elevation for at least 3 months
Who may be able to join
- 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
Who cannot join
- 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
Show all 9Show fewer
- Patients with known congenital anomalies
- Patients with organ failure
- Patients with elevated serum GGT, Total Bliribun or Direct Bilirubin levels
Trial locations and contacts
51 sites in 1 country.
51 sites in 1 country
Turkey (Türkiye)51 sites
Adana City Hospital
Adana
Baskent University Adana Hospital
Adana
Çukurova University Faculty of Medicine, Pediatric Gastroenterology
Adana
Afyonkarahisar Health Sciences University
Afyonkarahisar
Ankara Hospital
Ankara
Ankara University Faculty of Medicine, Pediatric Gastroenterology
Ankara
Ankara Yıldırım Beyazıt University, Yenimahalle Training and Research Hospital
Ankara
Baskent University Faculty of Medicine, Department of Pediatric Gastroenterology
Ankara
Gazi University Faculty of Medicine, Pediatric Gastroenterology
Ankara
Gülhane Training and Research Hospital
Ankara
Hacettepe University Faculty of Medicine, Pediatric Gastroenterology
Ankara
Keçiören Training and Research Hospital
Ankara
SBU Antalya Training and Research Hospital
Antalya
Bursa Yüksek İhtisas Training and Research Hospital
Bursa
Fatih Ünal, Bursa (Pediatric Gastroenterology Specialist)
Bursa
Uludag University, Faculty of Medicine, Pediatric Gastroenterology
Bursa
Hitit University Education and Research Hospital
Çorum
Pamukkale University School of Medicine
Denizli
Fırat University Faculty of Medicine, Pediatric Gastroenterology
Elâzığ
Atatürk University School of Medicine
Erzurum
Eskisehir Osmangazi University School of Medicine, Pediatric Gastroenterology
Eskişehir
Gaziantep University School of Medicine
Gaziantep
Isparta City Hospital
Isparta
Süleyman Demirel University Faculty of Medicine
Isparta
Biruni University School of Medicine
Istanbul
Health Sciences University Istanbul Umraniye Health Application and Research Center
Istanbul
Health Sciences University Şişli Etfal Training and Research Hospital
Istanbul
Istanbul Altunizade Acıbadem Hospital
Istanbul
Istanbul Haseki Training and Research Hospital
Istanbul
Istanbul Medeniyet University School of Medicine
Istanbul
Istanbul Okmeydani Training and Research Hospital
Istanbul
Istinye University Faculty of Medicine
Istanbul
İstanbul Bakırköy Sadi Konuk Training and Research Hospital
Istanbul
Kanuni Sultan Süleyman Training and Research Hospital
Istanbul
Koç University Hospital
Istanbul
Marmara University School of Medicine, Pediatric Gastroenterology
Istanbul
Medipol University, Istanbul
Istanbul
Yeditepe University Faculty of Medicine, Department of Pediatric Gastroenterology
Istanbul
Dr. Behçet Uz Children's Hospital
Izmir
Health Sciences University, İzmir Tepecik Training and Research Hospital
Izmir
Karabuk University Faculty of Medicine
Karabük
Erciyes University School of Medicine, Pediatric Gasrtroenterology
Kayseri
Kocaeli University School of Medicine
Kocaeli
Selcuk University Faculty of Medicine, Pediatric Gastroenterology
Konya
Inonu University School of Medicine, Pediatric Gastroenterology
Malatya
Malatya Training and Research Hospital
Malatya
Mersin City Hospital, Pediatric Gastroenterology
Mersin
Samsun Ondokuz Mayıs University Faculty of Medicine
Samsun
SBU Van Regional Training and Research Hospital
Van
Van 100. Yıl University School of Medicine
Van
Bulent Ecevit University, Faculty of Medicine
Zonguldak
About this study
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
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.
- Being tested
- Laboratory Tests
- Keywords
- CPK, Transaminase, DMD, Pompe
- Medical subject headings
- Muscular Dystrophy, Duchenne, Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Laboratory TestsGenetic
- 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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Genetic: Laboratory Tests |
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of Duchenne muscular dystrophin in boys and adolescents
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.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Oct 2019
- Study start1 Apr 2019
- Primary completion30 Jan 2022
- Study completion21 Oct 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Duchenne Muscular DystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 590 participants (actual)
- Target duration
- 3 Months
Sponsor and investigators
- Lead sponsor
- Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04120168
- Sponsor's protocol ID
- VICTORIA
- Acronym
- VICTORIA
- Status last verified
- May 2022
- First submitted
- 7 Oct 2019
- Last updated
- 24 Oct 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Kansu A, Kuloglu Z, Tumgor G, Taskin DG, Dalgic B, Caltepe G, Demiroren K, Dogan G, Tuna Kirsaclioglu C, Arslan D, Isik IA, Demir H, Bekem O, Sahin Y, Bayrak NA, Selimoglu MA, Yavuz S, Taskaya IE, Altay D; VICTORIA Study Group. The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study. Front Pediatr. 2023 Sep 25;11:1272177. doi: 10.3389/fped.2023.1272177. eCollection 2023.
PubMed 37818166
Study at a glance
From the registry record, last updated by the sponsor on 24 Oct 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT04120168
- Acronym / sponsor ID
- VICTORIA / VICTORIA
- Keywords
- CPK, Transaminase, DMD, Pompe
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 590 participants (actual)
- Lead sponsor
- Turkish Society of Pediatric Gastroenterology, Hepatology and NutritionUniversity, hospital or other
- Study start
- 1 Apr 2019 (actual)
- Primary completion
- 30 Jan 2022 (actual)
- Study completion
- 21 Oct 2022 (actual)
- First posted
- 9 Oct 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Target follow-up
- 3 Months
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| DMD and Pompe Disease Cohort | – | Genetic: Laboratory TestsThe 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. |
Who may qualify
- Ages
- 3 months to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Boys and girls with unexplained transaminase elevation for at least 3 months
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (9 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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. | Genetic | DMD and Pompe Disease Cohort |
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Oct 2022.
- Derived from this study: PubMed 37818166Kansu A, Kuloglu Z, Tumgor G, Taskin DG, Dalgic B, Caltepe G, Demiroren K, Dogan G, Tuna Kirsaclioglu C, Arslan D, Isik IA, Demir H, Bekem O, Sahin Y, Bayrak NA, Selimoglu MA, Yavuz S, Taskaya IE, Altay D; VICTORIA Study Group. The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study. Front Pediatr. 2023 Sep 25;11:1272177. doi: 10.3389/fped.2023.1272177. eCollection 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
51 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Duchenne Muscular Dystrophy and Pompe Disease (Late-onset), run by Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition at 51 sites in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Oct 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 51 sites in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Frequency of Duchenne muscular dystrophin in boys and adolescents (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04120168, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Oct 2022.