CDMGUP19002NCT06276244
Trial Readiness and Endpoint Assessment in Congenital and Childhood Myotonic Dystrophy
An observational study of CDM and ChDM, run by Fondazione Serena Onlus - Centro Clinico NeMO Milano at 1 site in Italy.
Trial summary
Children with congenital myotonic dystrophy (CDM) present at birth with respiratory insufficiency, talipes equinovarus, feeding difficulties and hypotonia. There is a 30% mortality rate in the first year of life. Read more about this study
- Who is it for?
- Ages Up to 17 years
- How many people
- 70 participants
- Where
- 1 siteItaly
- Study dates
- 8 Jul 2020to 1 Apr 2024
- 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: Please refer to the inclusion and exclusion criteria.
Who may be able to join
- Age 0-17 years, 11 months of age
- A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (\<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\>1,500).
- Age 0-17 years, 11 months of age
- A diagnosis of ChDM, which is defined as children having symptoms of myotonic dystrophy after day 30 from birth. These may include any delay in psychomotor development, attention deficit disorder, behavioral abnormalities within the spectrum of autistic spectrum disorders, gastrointestinal dysfunction such as persistent constipation or diarrhea and gastroesophageal reflux; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats.
Who cannot join
- Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of the site investigator
- Significant trauma within one month
- Internal metal or devices (exclusion for DEXA component)
- Unable to walk more than 50 feet if over the age of 3.
Trial locations and contacts
1 site in 1 country.
About this study
Children with congenital myotonic dystrophy (CDM) present at birth with respiratory insufficiency, talipes equinovarus, feeding difficulties and hypotonia. There is a 30% mortality rate in the first year of life. Children with childhood onset myotonic dystrophy present with symptoms later on but soon develop behavioural difficulties and learning difficulties and are at risk for autistic features and gastrointestinal symptoms. The ability to conduct a therapeutic trial in children with CDM or ChDM is directly limited by the lack of available data regarding appropriate clinical endpoints and biomarkers. Whereas there is an active Italian collaboration recruiting adults with DM1 to study muscle and multisystem aspects in this population, there is no active network in Italy involved in the pediatric population with DM1. Though the underlying mechanism is the same in adult DM1, in CDM and ChDM there are specific challenges to the pediatric population. The aim of this project is to coordinate the Italian Child Neurologist actively involved with CDM and ChDM in a common effort of standardizing protocols and procedures to be applied in the care of these patients. Specific aims are to collect functional measures and clinical information over time to define clinically meaningful endpoints and outcome measures in preparation for international therapeutic clinical trials. This project will contribute to the ongoing international study in CDM by recruiting additional patients from all over Italy and will extend the investigations to the childhood onset forms as an additional add-on pilot study in view of potential treatment options. The investigators expect that the Italian network, with Telethon support, will provide the necessary backbone for trial readiness in the pediatric population both at the national and international levels.
Read the detailed description
observational prospective study
- Keywords
- congenital myotonic dystrophy, childhood myotonic dystrophy
- Medical subject headings
- Myotonic Dystrophy
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 |
|---|---|---|
| Congenital Myotonic Dystrophy (CDM) | CDM group: 1. Age 0-17 years, 11 months of age 2. A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (\<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\>1,500). | |
| Childhood Muscular Dystrophy (ChDM) | ChDM group: 1. Age 0-17 years, 11 months of age 2. A diagnosis of ChDM, which is defined as children having symptoms of myotonic dystrophy after day 30 from birth. These may include any delay in psychomotor development, attention deficit disorder, behavioral abnormalities within the spectrum of autistic spectrum disorders, gastrointestinal dysfunction such as persistent constipation or diarrhea and gastroesophageal reflux; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Physical function
Measures of right grip strength using hand-held myometry
Measured: From Baseline (T0) to Days 1080
Physical function
Oral facial strength as measured by lip-force meter
Measured: From Baseline (T0) to Days 1080
Cognitive-behavioral and Quality of Life
Total score and subscores from the CCMDHI
Measured: From Baseline (T0) to Days 1080
Cognitive-behavioral and Quality of Life
BRIEF total scores
Measured: From Baseline (T0) to Days 1080
Biomarkers
Muscle RNA splicing changes
Measured: From Baseline (T0) to Days 1080
Biomarkers
Lean muscle mass
Measured: From Baseline (T0) to Days 1080
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Feb 2024
- Study start8 Jul 2020
- Primary completion1 Apr 2024
- Study completion1 Apr 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CDMStudies 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 70 participants (actual)
Sponsor and investigators
- Lead sponsor
- Fondazione Serena Onlus - Centro Clinico NeMO Milano
- Sponsor type
- University, hospital or other
- Collaborators
- Bambino Gesù Hospital and Research Institute, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, IRCCS Istituto delle Scienze Neurologiche di Bologna, IRCCS Fondazione Stella Maris, IRCCS National Neurological Institute "C. Mondino" Foundation, A.O.U. Città della Salute e della Scienza, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Istituto Giannina Gaslini
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06276244
- Sponsor's protocol ID
- NM040-GUP19002
- Acronym
- GUP19002
- Status last verified
- Jul 2024
- First submitted
- 15 Jan 2024
- Last updated
- 5 Jul 2024
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 5 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Trial Readiness and Endpoint Assessment in Congenital and Childhood Myotonic Dystrophy
- ClinicalTrials.gov ID
- NCT06276244
- Acronym / sponsor ID
- GUP19002 / NM040-GUP19002
- Keywords
- congenital myotonic dystrophy, childhood myotonic dystrophy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 70 participants (actual)
- Lead sponsor
- Fondazione Serena Onlus - Centro Clinico NeMO MilanoUniversity, hospital or other
- Collaborators
- Bambino Gesù Hospital and Research Institute, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, IRCCS Istituto delle Scienze Neurologiche di Bologna, IRCCS Fondazione Stella Maris, IRCCS National Neurological Institute "C. Mondino" Foundation, A.O.U. Città della Salute e della Scienza, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Istituto Giannina Gaslini
- Study start
- 8 Jul 2020 (actual)
- Primary completion
- 1 Apr 2024 (actual)
- Study completion
- 1 Apr 2024 (actual)
- First posted
- 23 Feb 2024 (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.
Children with congenital myotonic dystrophy (CDM) present at birth with respiratory insufficiency, talipes equinovarus, feeding difficulties and hypotonia. There is a 30% mortality rate in the first year of life. Children with childhood onset myotonic dystrophy present with symptoms later on but soon develop behavioural difficulties and learning difficulties and are at risk for autistic features and gastrointestinal symptoms. The ability to conduct a therapeutic trial in children with CDM or ChDM is directly limited by the lack of available data regarding appropriate clinical endpoints and biomarkers. Whereas there is an active Italian collaboration recruiting adults with DM1 to study muscle and multisystem aspects in this population, there is no active network in Italy involved in the pediatric population with DM1. Though the underlying mechanism is the same in adult DM1, in CDM and ChDM there are specific challenges to the pediatric population. The aim of this project is to coordinate the Italian Child Neurologist actively involved with CDM and ChDM in a common effort of standardizing protocols and procedures to be applied in the care of these patients. Specific aims are to collect functional measures and clinical information over time to define clinically meaningful endpoints and outcome measures in preparation for international therapeutic clinical trials. This project will contribute to the ongoing international study in CDM by recruiting additional patients from all over Italy and will extend the investigations to the childhood onset forms as an additional add-on pilot study in view of potential treatment options. The investigators expect that the Italian network, with Telethon support, will provide the necessary backbone for trial readiness in the pediatric population both at the national and international levels.
Detailed description
observational prospective study
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Congenital Myotonic Dystrophy (CDM) | – | –CDM group: 1. Age 0-17 years, 11 months of age 2. A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (\<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\>1,500). |
| Childhood Muscular Dystrophy (ChDM) | – | –ChDM group: 1. Age 0-17 years, 11 months of age 2. A diagnosis of ChDM, which is defined as children having symptoms of myotonic dystrophy after day 30 from birth. These may include any delay in psychomotor development, attention deficit disorder, behavioral abnormalities within the spectrum of autistic spectrum disorders, gastrointestinal dysfunction such as persistent constipation or diarrhea and gastroesophageal reflux; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats. |
Who may qualify
- Ages
- Up to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Please refer to the inclusion and exclusion criteria.
Key inclusion criteria (4 listed)
- Age 0-17 years, 11 months of age
- A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (\<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\>1,500).
- Age 0-17 years, 11 months of age
- A diagnosis of ChDM, which is defined as children having symptoms of myotonic dystrophy after day 30 from birth. These may include any delay in psychomotor development, attention deficit disorder, behavioral abnormalities within the spectrum of autistic spectrum disorders, gastrointestinal dysfunction such as persistent constipation or diarrhea and gastroesophageal reflux; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats.
Key exclusion criteria (4 listed)
- Any other non-DM1 illness that would interfere with the ability or results of the study in the opinion of the site investigator
- Significant trauma within one month
- Internal metal or devices (exclusion for DEXA component)
- Unable to walk more than 50 feet if over the age of 3.
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
Physical function
Time frame: From Baseline (T0) to Days 1080
Measures of right grip strength using hand-held myometry
Physical function
Time frame: From Baseline (T0) to Days 1080
Oral facial strength as measured by lip-force meter
Cognitive-behavioral and Quality of Life
Time frame: From Baseline (T0) to Days 1080
Total score and subscores from the CCMDHI
Cognitive-behavioral and Quality of Life
Time frame: From Baseline (T0) to Days 1080
BRIEF total scores
Biomarkers
Time frame: From Baseline (T0) to Days 1080
Muscle RNA splicing changes
Biomarkers
Time frame: From Baseline (T0) to Days 1080
Lean muscle mass
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 5 Jul 2024.
- Individual participant dataSharing planned: Undecided
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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.
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 CDM and ChDM, run by Fondazione Serena Onlus - Centro Clinico NeMO Milano at 1 site in Italy.
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 4 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 5 Jul 2024. 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 Italy. 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?
Physical function (time frame: From Baseline (T0) to Days 1080). The study lists 6 primary outcomes in all. 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 5 Jul 2024.