Neurological ObservationsiFocusNCT02625662
Facioscapulohumeral Dystrophy in Children
An observational study of Neurological Observations and Facioscapulohumeral Muscular Dystrophy, run by University Medical Center Nijmegen at 1 site in Netherlands.
Trial summary
This study will focus on the symptoms, natural history and clinical impact of facioscapulohumeral muscular dystrophy (FSHD) in children. Symptoms of classical FSHD start in adulthood. However, a small subgroup of FSHD patients have an early, childhood onset. Read more about this study
- Who is it for?
- Ages Up to 17 years
- Conditions the study is for
- Neurological Observations, Facioscapulohumeral Muscular Dystrophy, Pediatric Disorder
- How many people
- 32 participants
- Where
- 1 siteNetherlands
- Study dates
- Nov 2015to 10 Sep 2019
- 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 Up to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: All children aged 0-17 years with genetically confirmed FSHD
Who may be able to join
- aged 0-17 years
- symptoms of facial, scapulohumeral or peroneal weakness
- genetically proven FSHD1 or FSHD2
- living in the Netherlands
Who cannot join
- no informed consent
Trial locations and contacts
1 site in 1 country.
Netherlands1 site
Radboud University Medical Center
Nijmegen, Gelderland, 6500
About this study
Official title: Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus)
This study will focus on the symptoms, natural history and clinical impact of facioscapulohumeral muscular dystrophy (FSHD) in children.
Symptoms of classical FSHD start in adulthood. However, a small subgroup of FSHD patients have an early, childhood onset. This early onset is associated with faster progression and other symptoms like hearing loss and epilepsy.
The symptoms, natural history and clinical impact of FSHD in children are largely unknown.
The results of this study will be vital for adequate symptomatic management and trial-readiness.
Read the detailed description
FSHD is a hereditary muscle disease with slowly progressive muscle weakness. In children it is a very heterogenic disease ranging from severely affected infants to mildly affected adolescents. Symptoms can include muscle weakness, pain, fatigue, epilepsy, hearing loss, vision loss, mental retardation and spinal deformities. The prevalence of these symptoms and the adequate follow-up of these symptoms is unknown. Moreover the clinical impact and social functioning of children with FSHD is under exposed.
Therefore this study will focus on the total spectrum of FSHD in children.
In addition, an extensive genetic screening will be conducted, searching for (epi)genetic disease modifiers and severity predictors.
- Keywords
- muscular dystrophy, natural history, genetic profilling
- Medical subject headings
- Neurologic Manifestations, Muscular Dystrophy, Facioscapulohumeral, 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 |
|---|---|---|
| iFSHD group | First recruitment group |
What is being measured
The primary outcome is the main question the study is designed to answer.
Motor Function Measure
Global motor functioning
Measured: 2 years
Secondary outcomes (18)
ICH Body functioning: Manual Muscle Testing
Manual Muscle Testing using the 5-point scale of the Medical Research Council.
Measured: 2 years
ICH Body functioning: 6 Minute Walk test
Walking Distance in 6 minutes.
Measured: 2 years
ICH Body functioning: Denver II developmental screening test
Developmental level.
Measured: 2 years
ICH Body functioning: visual acuity
Snellen card
Measured: 2 years
ICH Body functioning: hearing
Tone- and voice audiometry
Measured: 2 years
ICH Body functioning: mental functioning
Electro-encephalography performed in clinically suspected epilepsy.
Measured: 2 years
ICH Body functioning: Pain
Faces scale pain.
Measured: 2 years
ICH Body functioning: cardiac functioning
12 lead Electrocardiogram.
Measured: 2 years
ICH Body functioning: respiratory functioning
Upright sitting spirometry measuring vital capacity and forced expiratory volume.
Measured: 2 years
ICH Body functioning: muscle functions
FSHD-evaluation score, Ricci score.
Measured: 2 years
ICH Body functioning: ingestion functions
TOMASS-C test.Neuromuscular disease swallowing status scale.
Measured: 2 years
ICH Body structure: muscle ultrasonography
Quantitative muscle ultrasonography of 20 skeletal muscles.
Measured: 2 years
ICH Body structure: eye structure
Dilated fundoscopy, optical coherence tomography, slit lamp examination
Measured: 2 years
ICF: Activities and participation: Kidscreen
Kidscreen-52.
Measured: 2 years
ICF: Activities and participation: NeuroQol
NeuroQol fatigue domain, qualitative anamnesis.
Measured: 2 years
ICF: Activities and participation: SEV
SEV questionnaire: social-emotional functioning.
Measured: 2 years
(Epi)genetic disease-modifying factors
Genetic profiling (DNA and RNA).
Measured: 2 years
Prevalance estimation
Nationwide recruitment, prevalence estimation.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Dec 2015 (estimated)
- Study startNov 2015
- Primary completionAug 2017
- Study completion10 Sep 2019
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 Neurological ObservationsStudies 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
- 32 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Medical Center Nijmegen
- Sponsor type
- University, hospital or other
- Collaborators
- Leiden University Medical Center, Princess Beatrix Muscle Foundation
- Responsible party
- Principal investigator, RJM Goselink, University Medical Center Nijmegen
- Investigators
- Baziel van Engelen, MD, PhD, Principal investigator, Nijmegen University Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02625662
- Sponsor's protocol ID
- NL53213.091.15
- Acronym
- iFocus
- Status last verified
- Sep 2019
- First submitted
- 2 Dec 2015
- Last updated
- 26 Sep 2019
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No: Patients have not given consent for IPD. Please contact researchers.
Publications
Goselink RJ, Schreuder TH, Mul K, Voermans NC, Pelsma M, de Groot IJ, van Alfen N, Franck B, Theelen T, Lemmers RJ, Mah JK, van der Maarel SM, van Engelen BG, Erasmus CE. Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD). BMC Neurol. 2016 Aug 17;16:138. doi: 10.1186/s12883-016-0664-6.
PubMed 27530735
Study at a glance
From the registry record, last updated by the sponsor on 26 Sep 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus)
- ClinicalTrials.gov ID
- NCT02625662
- Acronym / sponsor ID
- iFocus / NL53213.091.15
- Keywords
- muscular dystrophy, natural history, genetic profilling
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 32 participants (actual)
- Lead sponsor
- University Medical Center NijmegenUniversity, hospital or other
- Collaborators
- Leiden University Medical Center, Princess Beatrix Muscle Foundation
- Study start
- Nov 2015 (actual)
- Primary completion
- Aug 2017 (actual)
- Study completion
- 10 Sep 2019 (actual)
- First posted
- 9 Dec 2015 (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 will focus on the symptoms, natural history and clinical impact of facioscapulohumeral muscular dystrophy (FSHD) in children.
Symptoms of classical FSHD start in adulthood. However, a small subgroup of FSHD patients have an early, childhood onset. This early onset is associated with faster progression and other symptoms like hearing loss and epilepsy.
The symptoms, natural history and clinical impact of FSHD in children are largely unknown.
The results of this study will be vital for adequate symptomatic management and trial-readiness.
Detailed description
FSHD is a hereditary muscle disease with slowly progressive muscle weakness. In children it is a very heterogenic disease ranging from severely affected infants to mildly affected adolescents. Symptoms can include muscle weakness, pain, fatigue, epilepsy, hearing loss, vision loss, mental retardation and spinal deformities. The prevalence of these symptoms and the adequate follow-up of these symptoms is unknown. Moreover the clinical impact and social functioning of children with FSHD is under exposed.
Therefore this study will focus on the total spectrum of FSHD in children.
In addition, an extensive genetic screening will be conducted, searching for (epi)genetic disease modifiers and severity predictors.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| iFSHD group | – | –First recruitment group |
Who may qualify
- Ages
- Up to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- All children aged 0-17 years with genetically confirmed FSHD
Key inclusion criteria (4 listed)
- aged 0-17 years
- symptoms of facial, scapulohumeral or peroneal weakness
- genetically proven FSHD1 or FSHD2
- living in the Netherlands
Key exclusion criteria (1 listed)
- no informed consent
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
Motor Function Measure
Time frame: 2 years
Global motor functioning
18 secondary outcomes
ICH Body functioning: Manual Muscle Testing
Time frame: 2 years
ICH Body functioning: 6 Minute Walk test
Time frame: 2 years
ICH Body functioning: Denver II developmental screening test
Time frame: 2 years
ICH Body functioning: visual acuity
Time frame: 2 years
ICH Body functioning: hearing
Time frame: 2 years
ICH Body functioning: mental functioning
Time frame: 2 years
ICH Body functioning: Pain
Time frame: 2 years
ICH Body functioning: cardiac functioning
Time frame: 2 years
ICH Body functioning: respiratory functioning
Time frame: 2 years
ICH Body functioning: muscle functions
Time frame: 2 years
ICH Body functioning: ingestion functions
Time frame: 2 years
ICH Body structure: muscle ultrasonography
Time frame: 2 years
ICH Body structure: eye structure
Time frame: 2 years
ICF: Activities and participation: Kidscreen
Time frame: 2 years
ICF: Activities and participation: NeuroQol
Time frame: 2 years
ICF: Activities and participation: SEV
Time frame: 2 years
(Epi)genetic disease-modifying factors
Time frame: 2 years
Prevalance estimation
Time frame: 2 years
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 26 Sep 2019.
- Derived from this study: PubMed 27530735Goselink RJ, Schreuder TH, Mul K, Voermans NC, Pelsma M, de Groot IJ, van Alfen N, Franck B, Theelen T, Lemmers RJ, Mah JK, van der Maarel SM, van Engelen BG, Erasmus CE. Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD). BMC Neurol. 2016 Aug 17;16:138. doi: 10.1186/s12883-016-0664-6.
- Individual participant dataSharing planned: No. Patients have not given consent for IPD. Please contact researchers.
Related trials for Neurological Observations
Active, not recruitingPhase 2
Safety and Efficacy of the PAINLESS Nerve Growth Factor CHF6467 in Optic Pathway Glioma (OPG)
Optic Pathway Glioma
RecruitingPhase 1
A Study to Assess the Safety and Clinical Activity of Azer-cel in Participants With B-cell Mediated Autoimmune Disorders
B-cell Mediated Autoimmune Disorders
Active, not recruitingPhase 3
A Phase 3, Placebo-Controlled Study to Investigate LP352 in Children and Adults With Dravet Syndrome (DS)
Dravet Syndrome
Not yet recruitingPhase 4
Behavioral and/or Mirabegron to Treat Urinary Symptoms in Parkinson Disease
Overactive Bladder, Parkinson Disease
RecruitingPhase 3
A Study to Assess the Efficacy and Safety of Empasiprubart in Adults With CIDP
Chronic Inflammatory Demyelinating Polyneuropathy, CIDP
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.
Baziel van Engelen, MD, PhD principal investigator
Nijmegen University Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurological Observations and Facioscapulohumeral Muscular Dystrophy, run by University Medical Center Nijmegen at 1 site in Netherlands.
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 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: finished, as of the sponsor's last update on 26 Sep 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. 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?
Motor Function Measure (time frame: 2 years). 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 NCT02625662, 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 26 Sep 2019.