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Completed

NCT Number: NCT06276244

Trial Readiness and Endpoint Assessment in Congenital and Childhood Myotonic Dystrophy

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.

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Key information

Conditions

CDM ChDM Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Myotonic Disorders Myotonic Dystrophy Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases

Age range

Up to 17 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Fondazione Serena Onlus - Centro Clinico NeMO Milano

Milan, 20162, Italy

About this study

observational prospective study

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

, CDM group:

  • 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).

Inclusion criteria

, ChDM group:

  • 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.

Exclusion criteria

, CDM and ChDM groups:

  • 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.

Treatment and study plan

Primary outcomes

  1. Physical function

    Time frame: From Baseline (T0) to Days 1080

    Measures of right grip strength using hand-held myometry

  2. Physical function

    Time frame: From Baseline (T0) to Days 1080

    Oral facial strength as measured by lip-force meter

  3. Cognitive-behavioral and Quality of Life

    Time frame: From Baseline (T0) to Days 1080

    Total score and subscores from the CCMDHI

  4. Cognitive-behavioral and Quality of Life

    Time frame: From Baseline (T0) to Days 1080

    BRIEF total scores

  5. Biomarkers

    Time frame: From Baseline (T0) to Days 1080

    Muscle RNA splicing changes

  6. Biomarkers

    Time frame: From Baseline (T0) to Days 1080

    Lean muscle mass

Sponsors and collaborators

Lead sponsor

Fondazione Serena Onlus - Centro Clinico NeMO Milano

Other

Collaborators

  • A.O.U. Città della Salute e della Scienza
  • Bambino Gesù Hospital and Research Institute
  • Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS
  • IRCCS Fondazione Stella Maris
  • IRCCS Istituto delle Scienze Neurologiche di Bologna
  • IRCCS National Neurological Institute "C. Mondino" Foundation
  • Istituto Giannina Gaslini

Registry information

Acronym: GUP19002

Important dates

Study start
2020
Primary completion
2024
Study completion
2024
First posted
Feb 23, 2024
Registry last updated
Jul 5, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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