Understanding Myotonic Dystrophy in Children and Young People
Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation
This study is trying to learn more about how Myotonic Dystrophy affects the brains and behavior of children and young people to help find better treatments in the future.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 1 Year to 35 Years |
| Sex | All |
| Sponsor | IRCCS Eugenio Medea Academic / other |
| Locations | 1 site (Bosisio Parini, Lecco) |
| Trial ID | NCT06378216 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect structured data on neuropsychological, clinical neuroradiologic, and neurorehabilitation aspects in children and young individuals diagnosed with congenital and juvenile forms of Myotonic Dystrophy Type 1. Participants will undergo a series of evaluations, including neurological assessments, cognitive testing, psychiatric evaluations, and neuroimaging studies to better understand their cognitive profiles and the evolution of their condition. The findings will help clarify the effectiveness of potential experimental therapies targeting the underlying molecular mechanisms of the disorder.
Who should consider this trial
Good fit: Ideal candidates are individuals under 35 years old with a genetically confirmed diagnosis of Myotonic Dystrophy Type 1, specifically those with congenital or juvenile forms.
Not a fit: Patients with other significant health conditions that prevent participation in clinical assessments or those with devices that interfere with MRI procedures may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and treatment options for children and young people with Myotonic Dystrophy Type 1.
How similar studies have performed: While there is ongoing research into Myotonic Dystrophy, this specific approach focusing on neuropsychological and neuroimaging evaluations in younger patients is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion criteria: 1. genetically defined diagnosis of Steinert myotonic dystrophy 2. age \<35 years 3. reading and signing the informed consent. For the congenital form: presence of hypotonia and weakness at birth, for the juvenile form: onset between 1 and 10 years with normal pre-perinatal history. Exclusion criteria 1. other concomitant pathologies that completely prevent the execution of clinical assessments 2. presence of devices and prostheses that prevent the execution of the MRI 3. lack of family compliance. -
Where this trial is running
Bosisio Parini, Lecco
- Maria Grazia D'Angelo — Bosisio Parini, Lecco, Italy (Recruiting)
Study contacts
- Study coordinator: Maria G D'Angelo, MD
- Email: grazia.dangelo@lanostrafamiglia.it
- Phone: 031877870
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.