Clinical Research Directory

An Open-Label Extension Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1 (FREEDOM-OLE)

The purpose of this study is to learn about the long-term safety and tolerability of PGN-EDODM1 in participants with myotonic dystrophy type 1 (DM1) who have completed a prior study with PGN-EDODM1.

A Clinical Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1

The purpose of this study is to learn about the effects of an investigational medicine, PGN-EDODM1, to see how safe and tolerable multiple administrations of PGN-EDODM1 are for people with myotonic dystrophy type 1 (DM1) compared to placebo.

Study of ATX-01 in Participants With DM1

The goal of this clinical trial is to test ATX-01 in participants with myotonic dystrophy type 1 (DM1). The main question it aims to answer is if ATX-01 is safe and well tolerated. The trial will compare the safety and tolerability of ATX-01 and a matching placebo. There will be a single-ascending dose part of the trial and a multiple-ascending dose part. In the single-ascending dose, participants will receive one dose of ATX-01 or placebo. In the multiple-ascending dose part, participants will receive three doses of ATX-01 or placebo. ATX-01 is a novel anti-miR (synthetic single stranded oligonucleotide) that inhibits a microRNA called miR-23b.

The Spanish National Registry for Myotonic Dystrophy Type 1

Myotonic Dystrophy Type 1 (DM1) is a rare genetic neuromuscular condition that can affect multiple organs and varies widely in how it presents. DM1 is the most common form of adult-onset muscular dystrophy, with an estimated prevalence of approximately 1-5 per 10,000 people. In Spain, the condition shows notable regional differences, making it especially important to understand its characteristics within the population. The aim of this study is to support a research initiative designed to better characterise DM1. We are developing a comprehensive national registry, collecting patient-reported information, clinical data and omics data that will improve our understanding of the disease and help identify individuals who may be eligible for clinical trials.

Global Open-Label Extension Study of Del-desiran for the Treatment of DM1

A Global Phase 3 Open-Label Extension Study to Assess the Long-Term Safety, Tolerability, and Efficacy of Intravenous Delpacibart Etedesiran (abbreviated del-desiran, formerly AOC 1001) for the Treatment of Myotonic Dystrophy Type 1

Global Study of Del-desiran for the Treatment of DM1

A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Global Study to Evaluate the Efficacy and Safety of Intravenous Delpacibart Etedesiran (abbreviated del-desiran, formerly AOC 1001) for the Treatment of Myotonic Dystrophy Type 1

Calcium Channel Blocker in Myotonic Dystrophy Type 1

This is a Phase 1 clinical trial designed to evaluate the safety and tolerability of amlodipine, a calcium channel blocker, in adults with Myotonic Dystrophy Type 1 (DM1). Amlodipine is being studied to see if it can improve muscle strength, reduce stiffness (myotonia), and improve function by modifying calcium flow in muscle cells. All participants will receive amlodipine starting at 2.5 mg daily for 2 weeks, then 5 mg for 4 weeks. After that, participants will be randomly assigned to continue on 5 mg or increase to 10 mg for an additional 4 weeks. The main goals are to assess changes in blood pressure and any adverse events to determine whether the drug is safe in this population. The study will also explore how amlodipine affects muscle strength, mobility, fatigue, and daily function using clinical tests and questionnaires. Findings will inform a future phase 2 trial.

Evaluation of the Efficacy and Safety of Metformin in the Myotonic Dystrophy Type 1 (Steinert's Disease)

The study team hypothesize that non-diabetic patients with Myotonic dystrophy type I (DM1) will improve their symptoms, especially their motor deficit which is the main feature of the disease, because of the splicing defect correction by metformin. The primary objective of the study is to evaluate the efficacy of metformin vs placebo, on the improvement of muscle function in patients with DM1 compared to its placebo. As the secondary objectives, the study aims: * To evaluate the safety of metformin on patient with DM1. * To evaluate the efficacy of metformin vs placebo on: 1. The hand-grip strength; 2. The thumb-index pinch strength; 3. The locomotor function; 4. The respiratory function; 5. The cardiac function; 6. The quality of life; 7. The daily and social activity.

Study of ARO-DM1 in Subjects With Type 1 Myotonic Dystrophy

This is a phase 1/2a double-blinded, placebo-controlled, dose-escalating study to evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of single and multiple ascending doses of ARO-DM1 compared to placebo in male and female subjects with type 1 myotonic dystrophy (DM1). Participants who have provided written informed consent and met all protocol eligibility requirements will be randomized to receive single (Part 1) or multiple (Part 2) doses of ARO-DM1 or placebo.

A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

Myotonic dystrophy 1 (DM1) is an autosomal, dominantly inherited neuromuscular disorder characterized by skeletal muscle weakness, myotonia, cardiac conduction abnormalities, cataracts, and other abnormalities. This disease results from an expansion of a cytosine-thymine-guanine (CTG) trinucleotide repeat in the 3'-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19. Currently, there is limited phenotype and genotype data available for DM1 patients with Chinese Han ethnicity. Therefore, this study aims to fill this gap and provide complementary data.

Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology

The ActiLiège-Adult study is a prospective, longitudinal, observational study designed to collect natural history data on adult patients with neurological or metabolic diseases affecting movement. Conducted at the Centre de Référence Liégeois des Maladies Neuromusculaires in Liège, Belgium, the study will enroll 300 ambulant patients, including individuals with neuromuscular disorders and obesity. Using the Syde® wearable device, the study aims to continuously monitor motor function in real-life settings over a period of up to two years. The primary objective is to evaluate the utility of digital mobility outcomes, such as the 95th centile of stride velocity (SV95C), as reliable and objective endpoints for future clinical trials.

The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.

The planned project is an intervention study to assess the risk of falling after adaptation of an assistive gait devices in patients with the following neuromuscular diseases: Inclusion body myositis, myotonic dystrophy, limb girdle and facioscapulohumeral muscular dystrophies, Pompe disease, Lambert-Eaton syndrome, myasthenia gravis, spinal muscular atrophy, Guillain-Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy, Friedreich's ataxia and hereditary motor and sensory neuropathy. The primary aim is to assess the risk of falling after a suitable assistive gait device has been provided with an adaptation phase through training. The data should help to improve the provision of aids for patients with neuromuscular diseases. This should have a positive effect on the risk of falling and thus improve quality of life and reduce mortality and morbidity. To achieve these goals, a one-week intervention with training sessions on handling, balance and coordination as well as fall prevention will becarried out after the patient has been fitted with a suitable assistive gait device. The interventions will be embedded in the inpatient rehabilitation programme. The functional gait and balance tests 'Timed Up and Go', '10 metre walk test', '6-minute walk test' and 'Dynamic Gait Index' will be recorded additionally. The Falls Efficacy Scale International questionnaire will be utilised to evaluate the risk of falling, while the Quebec User Evaluation of Satisfaction with Assistive Technology questionnaire will be employed to ascertain satisfaction with the assistive devices. The study is scheduled to run for a period of 14 days, during which participants will undergo three functional walking and balance tests. As part of the inpatient rehabilitation programme, participants will undergo a week-long period of rehabilitation without assistive technology, followed by a subsequent week of rehabilitation with adapted assistive technology.

Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological understanding of the phenotypic heterogeneity of Myotonic Dystrophy 1 by examining strategies to improve the reliability by making further refinements in our sample collection and analysis procedures by developing strategies for managing patient heterogeneity going forward. Funding Source- FDA OOPD

Myotonic Dystrophy - Vascular and Cognition

The cognitive disorders of adult forms of myotonic dystrophies type 1 are heterogeneous (impairment of executive functions, visio construction and theory of the mind, which can progress to the stage of dementia). Nevertheless, patients have very different degrees of cognitive impairment. Expansion of CTG triplets disrupts the alternative splicing of mRNAs of various proteins, including the insulin receptor and Tau protein. Type 2 diabetes, associated with peripheral insulin resistance, is therefore common in this pathology. Type 2 diabetes,could to explain the cognitive impairment of patients, through the accelerated development of brain lesions (especially tauopathy and cerebral atrophy).

Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study

The objective of the ActiLiège Next study is to collect longitudinal data from patients and control subjects using a wearable magneto-inertial device. By collecting natural history data in various neuromuscular disorders (Duchenne Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy 1, Charcot-Marie-Tooth, Centronuclear Myopathy, Congenital Muscular Dystrophy), we aim to validate digital outcome measures to continuously assess motor function in real-life.

Myotonic Dystrophy Family Registry

The Myotonic Dystrophy Family Registry (MDFR) is an online, patient-entered database that collects information on myotonic dystrophy (DM) to aid researchers in developing new, effective treatments and help identify participants for research studies and clinical trials.

Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation [MDCJ-NeuBeRe]

The rationale of the study is to collect structured data in the neuropsychological, clinical neuroradiologic and neurorehabilitation fields in children/young people affected by congenital and juvenile myotonic dystrophy. Children affected by the congenital form (CDM1) present important brain alterations present since birth while, on the contrary, patients with the adult form of DM1 often present a degenerative, slowly progressive neurocognitive picture. Promising therapies that aim to correct the molecular mechanism underlying the symptoms of adult forms of DM1 are under development, but their potential role at the level of the nervous system and in particular in forms of CDM1 (which appears to be a distinct disorder of neuronal development) is also to be clarified. To this end, a better definition of neurocognitive profiles and their evolution is essential for the purposes of evaluating the effectiveness of experimental therapies.