Facioscapulohumeral Muscular DystrophyFSHDNCT01437345
A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD
An observational study of Facioscapulohumeral Muscular Dystrophy, run by Cooperative International Neuromuscular Research Group at 12 sites in 5 countries.
Trial summary
This study is an observational study that aims to advance our knowledge on infantile onset FSHD. The study will include 50 participants of all ages who have presented with symptoms of FSHD between birth and 10 years of age. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Facioscapulohumeral Muscular Dystrophy
- How many people
- 53 participants
- Where
- 12 sitesin 5 countries
- Study dates
- Jul 2012to Aug 2017
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with infantile onset (diagnosed at birth until 10 years of age) and genetically confirmed FSHD will be recruited. This will include children and youth (less than 18 years old) with FSHD who are currently followed in pediatric neuromuscular centers, as well as adults (18 years or older) with FSHD who are identified as having infantile onset of disease by chart review, clinical exam, and genetic confirmation.
Who may be able to join
- Affected participants must have a clinical diagnosis of FSHD, including the presence of all of the following features based on review of medical records and/or direct examination:
- Onset of symptoms involving the facial or shoulder girdle muscles
- Autosomal dominant inheritance in familial cases
- Contraction of the D4Z4 repeat array from 1-10 (10 - 38 kb) copies in the 4q35 subtelomeric region, based on established molecular genetic techniques
Who cannot join
- Symptomatic cardiomyopathy or severe cardiac arrhythmia which may limit the ability to complete the study protocol
- Maternal/mitochondrial mode of inheritance
- Evidence of an alternative diagnosis based on muscle biopsy or other available investigations
Trial locations and contacts
12 sites in 5 countries.
12 sites in 5 countries
United States7 sites
Carolinas Medical Center
Charlotte, North Carolina, 28207
Duke Children's Hospital
Durham, North Carolina, 27710
University of Minnesota
Minneapolis, Minnesota, 55454
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, 15213
University of California - Davis
Sacramento, California, 95817
Washington University
St Louis, Missouri, 63110
Children's National Medical Center
Washington D.C., District of Columbia, 20010
Australia2 sites
Royal Children's Hospital
Melborne, 3052
The Children's Hospital at Westmead
Sydney
About this study
Official title: A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy
This study is an observational study that aims to advance our knowledge on infantile onset FSHD. The study will include 50 participants of all ages who have presented with symptoms of FSHD between birth and 10 years of age. Study participation will involve a single day of assessments at one of the participating CINRG centers (to include physical exam, cognitive testing, eye exam, hearing test, strength testing and speech evaluations). The procedures may be split over additional days for scheduling purposes.
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral
What is being measured
The primary outcome is the main question the study is designed to answer.
All Outcome Measures
- Establish a standardized muscle testing protocol including both manual and quantitative muscle testing as well as function testing for use in children and adults with infantile onset FSHD.
- To describe the clinical phenotypes of infantile FSHD; separately in the early infantile group (onset before age 5) and late onset group (onset between 5 and 10 years of age).
- To evaluate the impact of physical impairment, secondary health conditions, activity limitations and disability caused by FSHD on health-related quality of life and disability across different age groups; as well as to evaluate the utility of the FSHD clinical severity scale.
- To evaluate potential genetic modifiers of clinical phenotypes and disease progression in infantile FSHD.
Measured: Dec 2014
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Sep 2011 (estimated)
- Study startJul 2012
- Primary completionAug 2017
- Study completionAug 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Facioscapulohumeral 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
- Cross-sectional
- Enrolment
- 53 participants (actual)
Sponsor and investigators
- Lead sponsor
- Cooperative International Neuromuscular Research Group
- Sponsor type
- Research network
- Collaborators
- FSH Society, Inc., FSHD Global Research Foundation, Muscular Dystrophy Canada, aTyr Pharma, Inc.
- Responsible party
- Sponsor
- Investigators
- Jean K Mah, MD, MS, Principal investigator, Alberta Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01437345
- Sponsor's protocol ID
- ACH0311
- Acronym
- FSHD
- Status last verified
- Oct 2017
- First submitted
- 19 Sep 2011
- Last updated
- 11 Oct 2017
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 11 Oct 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT01437345
- Acronym / sponsor ID
- FSHD / ACH0311
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 53 participants (actual)
- Lead sponsor
- Cooperative International Neuromuscular Research GroupResearch network
- Collaborators
- FSH Society, Inc., FSHD Global Research Foundation, Muscular Dystrophy Canada, aTyr Pharma, Inc.
- Study start
- Jul 2012
- Primary completion
- Aug 2017 (actual)
- Study completion
- Aug 2017 (actual)
- First posted
- 20 Sep 2011 (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.
This study is an observational study that aims to advance our knowledge on infantile onset FSHD. The study will include 50 participants of all ages who have presented with symptoms of FSHD between birth and 10 years of age. Study participation will involve a single day of assessments at one of the participating CINRG centers (to include physical exam, cognitive testing, eye exam, hearing test, strength testing and speech evaluations). The procedures may be split over additional days for scheduling purposes.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with infantile onset (diagnosed at birth until 10 years of age) and genetically confirmed FSHD will be recruited. This will include children and youth (less than 18 years old) with FSHD who are currently followed in pediatric neuromuscular centers, as well as adults (18 years or older) with FSHD who are identified as having infantile onset of disease by chart review, clinical exam, and genetic confirmation.
Key inclusion criteria (4 listed)
- Affected participants must have a clinical diagnosis of FSHD, including the presence of all of the following features based on review of medical records and/or direct examination:
- Onset of symptoms involving the facial or shoulder girdle muscles
- Autosomal dominant inheritance in familial cases
- Contraction of the D4Z4 repeat array from 1-10 (10 - 38 kb) copies in the 4q35 subtelomeric region, based on established molecular genetic techniques
Key exclusion criteria (3 listed)
- Symptomatic cardiomyopathy or severe cardiac arrhythmia which may limit the ability to complete the study protocol
- Maternal/mitochondrial mode of inheritance
- Evidence of an alternative diagnosis based on muscle biopsy or other available investigations
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
All Outcome Measures
Time frame: Dec 2014
1. Establish a standardized muscle testing protocol including both manual and quantitative muscle testing as well as function testing for use in children and adults with infantile onset FSHD. 2. To describe the clinical phenotypes of infantile FSHD; separately in the early infantile group (onset before age 5) and late onset group (onset between 5 and 10 years of age). 3. To evaluate the impact of physical impairment, secondary health conditions, activity limitations and disability caused by FSHD on health-related quality of life and disability across different age groups; as well as to evaluate the utility of the FSHD clinical severity scale. 4. To evaluate potential genetic modifiers of clinical phenotypes and disease progression in infantile FSHD.
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 11 Oct 2017.
Related trials for Facioscapulohumeral Muscular Dystrophy
RecruitingPhase 1/2
A Trial to Assess Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Preliminary Efficacy of SFL-0821 in Adults With FSHD
Facioscapulohumeral Muscular Dystrophy (FSHD)
RecruitingPhase 1
Safety and Preliminary Efficacy of ULSC in Facioscapulohumeral Muscular Dystrophy (FSHD)
FSHD - Facioscapulohumeral Muscular Dystrophy
Not yet recruitingPhase 2
A Study of SAT-3247 to Evaluate the Safety, Tolerability, and Efficacy in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
Facioscapulohumeral Muscular Dystrophy (FSHD)
Enrolling by invitationPhase 1/2
Study of SRP-1001 in Adult and Adolescent Participants With Facioscapulohumeral Muscular Dystrophy Type 1
Muscular Dystrophy, Facioscapulohumeral
Active, not recruitingObservational study
Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD
Facioscapulohumeral Muscular Dystrophy
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.
Jean K Mah, MD, MS principal investigator
Alberta Children's Hospital
12 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Facioscapulohumeral Muscular Dystrophy, run by Cooperative International Neuromuscular Research Group at 12 sites in 5 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 4 inclusion and 3 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 11 Oct 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 12 sites in United States, Australia, Canada, Sweden, United Kingdom. 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?
All Outcome Measures (time frame: Dec 2014). 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 11 Oct 2017.