Duchenne Muscular DystrophyNCT01772043
Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping
An observational study of Duchenne Muscular Dystrophy, run by Cooperative International Neuromuscular Research Group at 9 sites in 2 countries.
Trial summary
We will utilize the Cooperative International Neuromuscular Research Group (CINRG) network to collect and store tissue and blood from patients with Duchenne muscular dystrophy (DMD) with specific genetic mutations within the dystrophin gene that could be treated by antisense oligonucleotide (AO) drugs. Read more about this study
- Who is it for?
- Ages 4 years and older, men only
- Conditions the study is for
- Duchenne Muscular Dystrophy
- How many people
- 53 participants
- Where
- 9 sitesin 2 countries
- Study dates
- Sep 2012to Aug 2016
- 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 4 years and older
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene. DMD participants over 4 years of age with known mutations that could be targeted by exon skipping therapies will be recruited for this study.
Who may be able to join
- Age 4 and above
- Diagnosis of DMD with a confirmed out-of-frame dystrophin gene deletions that could be corrected by skipping exon 45, 51, or 53 based on past genetic testing.
Who cannot join
- Investigator assessment of inability to comply with blood and skin sample collection
Trial locations and contacts
9 sites in 2 countries.
9 sites in 2 countries
United States8 sites
Johns Hopkins University School of Medicine, Kennedy Krieger
Baltimore, Maryland
Carolinas Medical Center
Charlotte, North Carolina
Duke Children's Hospital and Health Center
Durham, North Carolina
University of Tennessee
Memphis, Tennessee
University of Pittsburgh
Pittsburgh, Pennsylvania
University of California Davis
Sacramento, California
Stanford University Medical Center
Stanford, California
Children's National Health System
Washington D.C., District of Columbia
About this study
We will utilize the Cooperative International Neuromuscular Research Group (CINRG) network to collect and store tissue and blood from patients with Duchenne muscular dystrophy (DMD) with specific genetic mutations within the dystrophin gene that could be treated by antisense oligonucleotide (AO) drugs.
Read the detailed description
The purpose of this tissue bank is to collect blood and skin samples from participants who are diagnosed with Duchenne muscular dystrophy (DMD) and carry one of nine specific changes in the dystrophin gene. The specific dystrophin changes that we are interested in studying are those that would work with exon-skipping therapies in patients with DMD, specifically deletions of the follow exons: 10-52, 13-50, 29-50, 43-52, 44, 43-50, 45-50, 45-52, 46, 46-47, 46-48, 46-49, 46-51, 46-53, 46-55, 46-60, 47-50, 47-52, 48-50, 49-50, 50, 52, 52-63, 48-52, 49-52, 50-52.
These blood and skin samples will be held in a tissue bank at Carolinas Medical Center for future DMD research.
- Conditions
- Duchenne Muscular Dystrophy
- Keywords
- muscular dystrophy, tissue bank
- Medical subject headings
- Muscular Dystrophy, Duchenne, Muscular Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Duchenne muscular dystrophy | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Tissue Collection
Collection of blood, skin and optional muscle samples
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jan 2013 (estimated)
- Study startSep 2012
- Primary completionAug 2016 (estimated)
- Study completionAug 2016 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 53 participants (actual)
Sponsor and investigators
- Lead sponsor
- Cooperative International Neuromuscular Research Group
- Sponsor type
- Research network
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01772043
- Sponsor's protocol ID
- CHAR0312
- Status last verified
- Jul 2015
- First submitted
- 17 Jan 2013
- Last updated
- 28 Jul 2015
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 28 Jul 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping
- ClinicalTrials.gov ID
- NCT01772043
- Acronym / sponsor ID
- CHAR0312
- Conditions
- Duchenne Muscular Dystrophy
- Keywords
- muscular dystrophy, tissue bank
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 53 participants (actual)
- Lead sponsor
- Cooperative International Neuromuscular Research GroupResearch network
- Study start
- Sep 2012
- Primary completion
- Aug 2016 (estimated)
- Study completion
- Aug 2016 (estimated)
- First posted
- 21 Jan 2013 (estimated)
- 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.
We will utilize the Cooperative International Neuromuscular Research Group (CINRG) network to collect and store tissue and blood from patients with Duchenne muscular dystrophy (DMD) with specific genetic mutations within the dystrophin gene that could be treated by antisense oligonucleotide (AO) drugs.
Detailed description
The purpose of this tissue bank is to collect blood and skin samples from participants who are diagnosed with Duchenne muscular dystrophy (DMD) and carry one of nine specific changes in the dystrophin gene. The specific dystrophin changes that we are interested in studying are those that would work with exon-skipping therapies in patients with DMD, specifically deletions of the follow exons: 10-52, 13-50, 29-50, 43-52, 44, 43-50, 45-50, 45-52, 46, 46-47, 46-48, 46-49, 46-51, 46-53, 46-55, 46-60, 47-50, 47-52, 48-50, 49-50, 50, 52, 52-63, 48-52, 49-52, 50-52.
These blood and skin samples will be held in a tissue bank at Carolinas Medical Center for future DMD research.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Duchenne muscular dystrophy | – | – |
Who may qualify
- Ages
- 4 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene. DMD participants over 4 years of age with known mutations that could be targeted by exon skipping therapies will be recruited for this study.
Key inclusion criteria (2 listed)
- Age 4 and above
- Diagnosis of DMD with a confirmed out-of-frame dystrophin gene deletions that could be corrected by skipping exon 45, 51, or 53 based on past genetic testing.
Key exclusion criteria (1 listed)
- Investigator assessment of inability to comply with blood and skin sample collection
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Tissue Collection
Time frame: 1 day
Collection of blood, skin and optional muscle samples
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jul 2015.
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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.
9 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Duchenne Muscular Dystrophy, run by Cooperative International Neuromuscular Research Group at 9 sites in 2 countries.
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 2 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 28 Jul 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in United States, Canada. 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?
Results are not available in the source record.
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?
Tissue Collection (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 28 Jul 2015.