Clinical Trial Finder

Ataluren long-term

Study of Ataluren for previously treated patients with nmDBMD in Europe, Israel, Australia and Canada

Hub Summary

DMD is caused by a mutation in the gene which produces dystrophin. Dystrophin functions to maintain muscle structure and function. The loss of dystrophin in DMD leads to muscle weakness and loss of ambulation. A nonsense mutation is a specific type of mutation which is the cause of DMD in 10-15% of patients.

Ataluren is a drug designed to make the body's machinery less sensitive to nonsense mutations. This phase 3 trial is designed to assess the long-term safety and tolerability of Ataluren.

Study Number: NCT01557400

Santhera (SIDEROS) [TERMINATED]

A Phase III Double-blind Study with Idebenone in Patients with Duchenne Muscular Dystrophy (DMD) taking Glucocorticoid Steroids

Hub Summary

The SIDEROS trial is designed to determine the effect of idebenone at delaying the loss of lung function in patients with DMD, receiving glucocorticoid steroids. This is a placebo-controlled trial.

Study Number: NCT02814019

Vamorolone Phase 2b (VISION-DMD)

A Study to Assess the Efficacy and Safety of Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)

Hub Summary

This Phase 2b study is designed to evaluate the efficacy, safety pharmacodynamics and pharmacokinetics of vamorolone in comparison to corticosteroids and placebo treatments over a 24 week period. The study will also evaluate the persistence of the effect of vamorolone over a period of 48 weeks. 

The study is designed to compare 2 different doses of Vamorolone to a standard dose of corticosteroids (prednisone at 0.75 mg/kg/day) and to a placebo. Across all sites, this trial will be recruiting a total of 120 ambulant DMD patients ages 4 to <7 years. 

Study Number: NCT03439670

DYSTANCE 51 [TERMINATED]

A Randomised, Double-blind, Placebo-controlled, Efficacy and Safety Study of Suvodirsen (WVE-210201) With Open Label Extension in Ambulatory Patients With Duchenne Muscular Dystrophy

Hub Summary

Please note that Wave have stopped the development of this drug after the Phase 1 Open-label extension failed to meet its primary endpoint. 

DYSTANCE 51 is a phase 2/3 clinical trial designed to evaluate the efficacy and safety of WVE-210201 (suvodirsen) in ambulant boys with DMD mutations amenable to exon 51 skipping.

DYSTANCE 51 is comprised of two phases, a placebo-controlled phase and an open-label phase. In the placebo-controlled phase, patients will be randomized to receive suvodirsen 3 mg/kg, suvodirsen 4.5 mg/kg or placebo for 48 weeks. Dystrophin protein levels and functional outcomes will be assessed for each patient throughout the initial 48-week treatment period.

Each participant will have two biopsies in total, one at baseline, and one at either week 12, 22, or 46.

Following completion of the placebo-controlled phase of the study, patients will enter the open-label phase to receive ongoing treatment with suvodirsen. There will be no placebo or biopsies in the open label phase. However, functional assessments will continue.

Study Number: NCT03907072

Sarepta Extension Study for Casimersen or Golodirsen

An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy

Hub Summary

This is an open-label, non-randomized extension trial for patients who have already taken part in the trials testing the drugs, casimersen or golodirsen, to evaluate the effects of their long term use. 

This trial focuses on patients with Exon 45 and Exon 53 mutations, and will involve weekly intravenous infusions of 30mg/kg for up to 2 years. 

Study Number: NCT03532542

Genethon - Natural History of Duchenne Muscular Dystrophy

A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 5 to 9 Years

Hub Summary

This natural history study is looking to collect data on the natural disease course in a cohort in young male subjects aged from 5 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.

Study Number: NCT03882827

Sarepta- ESSENCE

Study of SRP-4045 and SRP-4053 in DMD Patients

Hub Summary

This study is a stage 3 trial of Sarepta's exon 45 and exon 53 skipping drugs. Exon skipping drugs use a small piece of genetic material to skip over the part of the dystrophin gene with a mutation. The part of the dystrophin gene with a mutation varies between patients. Therefore, exon skipping trials are mutation specific. This trial requires you to be amenable to the skipping of exon 45 or 53.

The main objective of this study is to determine the efficacy of the drugs compared to a placebo in DMD patients.

Study Number: NCT02500381

Testosterone for DMD

Testosterone therapy for Pubertal delay in DMD

Hub Summary

This observational study is looking at the outcomes of testosterone treatment in boys with DMD. The study is following the progression of adolescent males with DMD and delayed puberty. These patients are treated with testosterone to induce puberty. The participants are treated with the standard regiment of testosterone and this study is collecting data to review the effectiveness and tolerability of the current treatment regimen.

The researchers will use the results to explore what effect testosterone treatment has on pubertal development, growth, muscle strength and function, bone mineral density and body composition. The study also aims to define and understand side effects testosterone treatment may have.

Study Number: NCT02571205

Sarepta - EMBARK

A Phase 3 Multinational, Randomized, Double-Blind, Placebo-Controlled Systemic Gene Delivery Study to Evaluate the Safety and Efficacy of SRP-9001 in Patients With Duchenne Muscular Dystrophy (EMBARK)

Hub Summary

This study will evaluate the safety and efficacy of gene transfer therapy in boys aged between 4 and 7 with DMD. It is a randomized, double-blind, placebo-controlled study. The participants who are randomized to the placebo arm will have an opportunity for treatment with gene transfer therapy at the beginning of the second year.

Study Number: NCT05096221

BIND Study

Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5) Part 1: a Multicentre Online Phenotyping and Neurobehavioural Data Collection Study

Hub Summary

This study is looking at the connection between the behavioural aspects of DMD and a patient's DMD gene mutation. Participants will be asked to complete an online questionnaire, which will take approximately 70mins and can be completed at multiple sittings. This is open to male DMD patients between 5 and 17yrs old. 

Study Number: NCT04583917

PTC Ataluren Phase 3

Phase 3 Extension study of Ataluren (PTC124) in Patients with Nonsense Mutation Dystrophinopathy

Hub Summary

DMD is caused by a mutation in the gene which produces dystrophin. Dystrophin functions to maintain muscle structure and function. The loss of dystrophin in DMD leads to muscle weakness and loss of ambulation. A nonsense mutation is a specific type of mutation which is the cause of DMD in 10-15% of patients.

Ataluren is a drug designed to make the body's machinery less sensitive to nonsense mutations. This phase 3 trial is designed to assess the long-term safety of Ataluren in boys with nonsense dystrophinopathies. The study will also assess changes in clinical measures such as muscle function and pulmonary function.

Study Number: NCT02090959

Genethon- Microdystrophin Gene Therapy (GNT-016-MYDF)

GNT-016-MYDF: A phase I/II/III study with a dose determination part followed by an efficacy and safety evaluation of selected dose part and then by a long-term follow-up part in ambulant boys aged 6 to 10 years with DMD

Hub Summary

GNT0004 is a recombinant adenovirus-associated viral (AAV) vector gene therapy, composed of an AAV8 serotype capsid containing a sequence-optimised gene for a human microdystrophin.

Duchenne muscular dystrophy (DMD) is a neuromuscular disorder caused by dystrophin gene mutations leading to absence (almost absence) of functional dystrophin, a key protein that prevents muscle cell damage during physiological contractions. Conceptually, adding a functional copy of the gene to muscle cells would, in principle, treat the underlying cause of the disease. However, there are two main obstacles to overcome to achieve this. First, a vehicle (vector) is needed to transport the functioning gene to target muscle cells. AAV capsids are frequently used as the vehicle to transport genes in other gene therapy products. The specific type of AAV capsid in GNT0004 is called AAV8. The second obstacle to overcome is the size of the dystrophin gene. It is one of the largest genes in our bodies and because it is so large it cannot fit inside the AAV capsid. To address this obstacle, the Genethon research group has developed a miniaturized but functional version of dystrophin (Microdystrophin).

The principle of GNT0004 is to deliver an optimized microdystrophin protein to target tissues (heart and skeletal muscles) in DMD subjects. It is expected to significantly delay or slow down the progression of the disease in humans in a similar manner to how it has shown to be able to do this in animal models with the disease.

In order to help GNT0004 reach muscles throughout the body, GNT0004 will be given as a one-time intravenous (IV) infusion.

Study Number: EUDRACT N° 2020-002093-27

Santhera SIDEROS Open Label Extension [TERMINATED]

Phase III Study with Idebenone in Patients with Duchenne Muscular Dystrophy

Hub Summary

This study is a stage 3 trial of Sanethera's Idebenone drug and it's long term effects in delaying the loss of lung function in patients with DMD, receiving glucocorticoid steroids. This trial is only open to those patients who were part of the SIDEROS trial and are currently taking steroids. 

Study Number: NCT03603288

Pfizer - CIFFREO

A Phase 3 Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy

Hub Summary

This study is a phase 3 trial testing the safety and efficacy of Pfizer's gene therapy construct, PF-06939926. It is delivered using an adeno-associated virus, AAV, and carries a shortened version of the dystrophin gene (mini-dystrophin). The treatment will be given by an intravenous infusion. 

Two-thirds of the participants will receive the treatment. One-third will be randomly allocated to the placebo arm, but will be able to receive the treatment in the second year, so long as it remains safe to do so.

Please note that patients will need to be on daily steroids for 3 months before screening, to be eligible. They will also be able to be recruited to the trial up until their 8th birthday. For more information about the recruitment process for gene therapy trials, please click here. 

EU Clinical Trial Register number: 2019-002921-31

Study Number: NCT04281485

Patient Registry Translarna (Ataluren)

Long-term observational study of Translarna safety and effectiveness in usual care

Hub Summary

This phase 4 clinical study is designed to assess the safety of Translarna, also known at Ataluren. This study will follow patients who are receiving Translarna as part of their usual care for 5 years. At the patients usual visits, data will be collected to determine the safety and effectiveness of Translarna. 

Study Number: NCT02369731

Italfarmaco- Givinostat (EPIDYS)

Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients with Duchenne Muscular Dystrophy (EPIDYS)

Hub Summary

This study will compare the change in stair climb test and other functional tests in patients taking givinostat and patients taking a placebo. Givinostat has potential anti-inflammatory, antifibrotic and proregenerative effects.

Please note this protocol was amended early 2019.

Study Number: NCT02851797

Italfarmaco - Givinostat Extension

Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study

Hub Summary

This study is an open label extension, looking at the long-term safety and tolerability of GIVINOSTAT in patients who have already taken part in and completed any of the previous studies. 

GIVINOSTAT is a drug that may help to promote muscle regeneration and reduce inflammation and fibrosis in DMD patients. 

This extension is expected to last until the drug receives the necessary approvals and is available on the market or the study needs to be stopped due to safety and/or efficacy reasons.

Study Number: NCT03373968

Vamorolone Phase II Extension

Long-term extension Study to Assess Vamorolone in Boys with Duchenne Muscular Dystrophy (DMD)

Hub Summary

This extension study is designed to assess the safety of using vamorolone long term in children with DMD. The study will also compare muscle function to boys with DMD in other studies who did not take steroids as well as comparing weight gain with boys taking vamorolone and boys taking traditional steroids (prednisone).

Vamorolone is a steroid alternative which is designed to be an alternative to corticosteroids with reduced side effects.

Study Number: NCT03038399

Sarepta 53

Phase I/II Study of SRP-4053 in DMD Patients

Hub Summary

This study is designed to assess the safety, tolerability, efficacy and pharmacokinetics of Sarepta's exon skipping drug SRP-4053. SRP-4053 is designed to treat patients with DMD with deletions amenable to exon 53 skipping.

Study Number: NCT02310906

Brain study

Brain imaging and Cognition in patients with DMD

Hub Summary

This 2-year natural history study is designed to study the progression of pathological changes in the brain associated with the absence of dystrophin. The study will focus on cognitive impairment as well as looking at the relationship between the outcome measures and behavioural functioning.

Study Number: NOT ON clinicaltrials.gov

FOR-DMD

Finding the optimum regimen for Duchenne Muscular Dystrophy

Hub Summary

FOR-DMD study is designed to compare three different ways of giving corticosterioids to boys with DMD. The aim of this study is to see which method increases muscle strength the most and which produces the fewest side effects. The results of this study should provide patients and caregivers clearer information and guidelines about the best ways to take corticosteroids. The study will look at the following administration of corticosteroids:

• Prednisone 0.75mg/kg/day
• Prednisone 0.75mg/kg/day with 10 days on/10 days off treatment
• Deflazacort 0.9mg/kg/day

Study Number: NCT01603407

Outcome measures

Outcome measures in Duchenne Muscular Dystrophy: A natural history study

Hub Summary

With so many new therapies emerging for DMD, it is important we understand the natural history of the disease. This natural history study will assess the natural history of DMD sing a selection of assessment tools. The aim is to obtain natural history data to capture disease progression linking the ambulant and non-ambulant phases of DMD. This study will also provide an insight into the relationship between different assessment tools which are used in the clinic. 

Study Number: NCT02780492

Testosterone in DMD follow up study

Long term observational extension study of gonadal function after pubertal induction in Duchenne Muscular Dystrophy

Hub Summary

This study will be investigating the effects of testosterone being used over the course of 2 years to bring on puberty in boys with DMD. Puberty is often delayed in boys with DMD, and is a side effect of taking steroids, which are part of the Standards of Care. This study will be looking not only at the physical effects of taking testosterone, but also the emotional and psychological effects. 

Please note this trial is only open to boys who took part in the original observational study (NCT02571205) and is by invitation only. 

Study Number: Not on ClinicalTrials.gov

BIND 2

Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5 and WP6) Part 2: a Neurobehavioural and MRI Study

Hub Summary

The objective of this study is to understand the relationship between DMD and BMD brain comorbidities, and the location of the gene mutation which causes the disease.

The investigators will recruit both patients who have completed a related online study (ClinicalTrials.gov Identifier NCT04583917) and patients directly recruited from participating clinics or research settings. These patients will undergo a structured cognitive and neurobehavioural assessment. A subgroup of patients assessed in the research setting will be invited to also attend a second visit involving a magnetic resonance imaging (MRI) scan of the brain.

The investigators aim to recruit 80 participants in the UK and the number of participants in the remaining countries will be 190 patients.

Study Number: NCT04668716

Dyne Therapeutics - DYNE-251

Safety, Tolerability, Pharmacodynamics, Efficacy, and Pharmacokinetics Study of DYNE-251 in Participants with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping

Hub Summary

A Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending Dose Study Assessing Safety, Tolerability, Pharmacodynamics, Efficacy, and Pharmacokinetics of DYNE-251 Administered to Participants with Duchenne Muscular Dystrophy, aged 4 to 16 years, Amenable to Exon 51 Skipping.

Study Number: NCT05524883

Disease translation in DMD: Neuromuscular rare disease translational research in patients with DMD.

Disease translation in DMD

Hub Summary

This study is designed to study a number of genes considered to be modifiers for DMD. This translational research will identify and obtain DNA samples and clinical information from 400 cases with DMD. This data will then be grouped into clinically and genetically defined groups. The DNA of the participants will be analysed and correlated to motor performance, age at loss of ambulation, severity of respiratory failure and severity of cardiac impairment. 

Study Number: Not on clinicaltrials.gov

Sarepta ENVISION

A Phase 3, Multinational, Randomized, Double-Blind, Placebo-Controlled Systemic Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of SRP- 9001 in Non-Ambulatory and Ambulatory Subjects With Duchenne Muscular Dystrophy (ENVISION)

Hub Summary

The study will evaluate the safety and efficacy of delandistrogene moxeparvovec gene transfer therapy in non-ambulatory and ambulatory males with DMD. This is a randomized, double-blind, placebo-controlled 2-part study. Participants will be in the study for approximately 128 weeks. All participants will have the opportunity to receive intravenous (IV) delandistrogene moxeparvovec in either Part 1 or Part 2.

Study Number: NCT05881408

Italfarmaco - ULYSSES

Randomised, Double-blind, Placebo-controlled, Multicentre Study to Evaluate the Efficacy, Safety and Tolerability of Givinostat in Non-ambulant Patients With Duchenne Muscular Dystrophy (ULYSSES)

Hub Summary

The main objective of this study is to demonstrate the efficacy of givinostat in reducing muscle decline in non-ambulant patients aged 9-17 with Duchenne Muscular Dystrophy.  Additional objectives are the evaluation of safety, tolerability of the drug and further exploration of efficacy of givinostat in non-ambulant DMD population.

Study Number: NCT05933057

Pilot Study Comparing night time AFOs with CCDs in the management of ankle contractures

A pilot study to compare night time Ankle Foot Orthosis (AFOs) with Contracture Control Devices (CCDs) in the management of ankle contractures in ambulant boys with Duchenne Muscular Dystrophy (DMD)

Hub Summary

This pilot study aims to identify the sample size required to power a larger scale study to compare AFOs and CCDs in managing ankle range of movement and function in boys with Duchenne muscular dystrophy. It will also explore adherence and patient satisfaction for the two devices. 

This study is open to boys who are seen in Newcastle for clinical care and also in adjacent geographical areas to Newcastle who are willing to travel to Newcastle and who meet the inclusion criteria for the study. This includes those whose local physiotherapy providers support their inclusion in the study. Boys will need to be either night splint naive or have only introduced well-fitting night splints within the last 18 months.

D3 Creatine

Changes in muscle mass using the D3-creatine dilution method and function in DMD

Hub Summary

This study will use a new, non-invasive method of measuring muscle mass in patients with Duchenne muscular dystrophy. It is jointly funded by Duchenne UK, Muscular Dystrophy Association and Parent Project Muscular Dystrophy.

Participants will attend 3 6-monthly study visits over the course of the study in line with regular clinic visits. At the visit, participants will drink a small amount of D3-creatine, which can be used to measure changes in the muscle by testing urine samples. There are no risks involved with drinking the solution - it has been tested in children and adults of all ages, as well as boys with DMD, with no adverse events being recorded so far.

During the visit, the participant will also undergo functional tests, including the NSAA (North Star Ambulatory Assessment), upper limb assessment and timed tests. This will help to demonstrate whether changes in muscle mass will be reflected in changes in function.

Study Number: IRAS - 297878