Clinical Research Directory

Study to Evaluate the Safety and Effectiveness of ELEVIDYS in Participants With Duchenne Muscular Dystrophy Treated in a Post-Marketing Setting

The primary objective of this study is to evaluate acute liver injury (ALI) rates associated with ELEVIDYS with the addition of sirolimus as an adjunct prophylactic immunosuppression agent.

Intermittent vs Alternate Daily Regimen of Prednisolone in Ambulatory Boys With Duchenne Muscular Dystrophy

The alternate-day regimen is hypothesized to reduce hypothalamic-pituitary-adrenal (HPA) axis suppression and decrease steroid-related toxicity. Similarly, intermittent regimens aim to provide periodic steroid exposure sufficient for muscle preservation while allowing recovery periods to limit side effects. There is a critical need for localized, prospective data to determine which protocol offers the optimal balance of efficacy and safety for pediatric patients in Pakistan.

A Phase 3 Study of TAS-205 in Patients With Duchenne Muscular Dystrophy（REACH-DMD）

The purpose of this study is to evaluate the efficacy and safety of TAS-205 in patients with Duchenne muscular dystrophy

Evaluating VM100 Nutritional Supplement for Improving Quality of Life in Duchenne Muscular Dystrophy Patients

This pilot study will investigate the potential efficacy of VM100, a nutritional supplement specifically formulated for patients with DMD, on quality of life and physical symptoms. Twenty patients (aged 8 an over) will be enrolled to undergo a 10-week placebo-controlled intervention with VM100. Outcomes will include validated questionnaires and qualitative interview to assess impact on mental, cognitive and mood related measures, as well as endurance and fatigue).

Once Weekly Infant Corticosteroid Trial for DMD

The hypothesis tested here is that a lower dose of intermittent oral corticosteroids (5mg/kg/week) will be equally effective to the 10mg/kg/week dose.

Study of UC-MSC in DMD Patients

The primary objective of this study is to provide UC-MSC treatment to patients with DMD. Secondary objectives will be to further evaluate treatment-related adverse events as well as changes in DMD-related functional testing/assessments, blood laboratories, and inflammation related biomarker levels over time.

Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients

Phase 2a trial of SAT-3247 in ambulatory DMD patients aged ≥ 7 and \< 10 years. The trial has two parts. In Part 1, the trial will study two doses of SAT-3247 in a randomized, double-blind, placebo-controlled weekday regimen for 12 weeks to determine the optimal dose, safety, tolerability, and preliminary efficacy. In Part 2, the trial will study two doses of SAT-3247 for an additional 9 months.

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

The purpose of this study is to assess the efficacy, safety, pharmacokinetics (PK) and pharmacodynamics (PD) of satralizumab, a humanized anti-interleukin-6 receptor (aIL-6R) monoclonal antibody, in ambulatory and non-ambulatory participants with DMD aged ≥ 8 to \< 18 years old receiving corticosteroid therapy.

A Study of SGT-003 Gene Therapy in Ambulant Males With Duchenne Muscular Dystrophy (IMPACT DUCHENNE)

This is a Phase 3, double-blind, placebo-controlled study with the primary objective of evaluating the efficacy of a single IV infusion of SGT-003 in pediatric ambulant male participants with DMD. The secondary objectives include the evaluation of additional efficacy and safety outcomes. The study will be divided into 2 parts. Participants will be randomized 1:1 to either SGT-003 in Part 1 followed by placebo in Part 2 or to placebo in Part 1 followed by SGT-003 in Part 2. Participants will continue to be monitored in long term follow up (LTFU) for at least 5 years from their SGT-003 dosing date.

A Gene Delivery Study to Evaluate the Safety and Expression of Delandistrogene Moxeparvovec in Participants Under the Age of Four With Duchenne Muscular Dystrophy (DMD)

This open-label, single-arm study will evaluate the safety and expression of delandistrogene moxeparvovec in participants with DMD. Participants will be in the study for approximately 264 weeks.

Safety and Efficacy of KER-065 in Participants With Duchenne Muscular Dystrophy

The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of KER-065 administered to adult and pediatric ambulatory and nonambulatory male participants with Duchenne Muscular Dystrophy (DMD) on stable background therapy.

Microdystrophin Gene Transfer Study in Adolescents and Children With DMD

This is a controlled, open-label, single-ascending dose study to evaluate the safety and tolerability of SGT-001 in adolescents and children with Duchenne muscular dystrophy (DMD). Participants will receive a single intravenous (IV) infusion of SGT-001 and will be followed for approximately 5 years. The protocol was amended to drop the control arm after 4 participants were dosed.

Ph2 Open-label Study of AOC 1044 in Duchenne Muscular Dystrophy Participants With Mutations Amenable to Exon44 Skipping

AOC 1044-CS2 (EXPLORE44-OLE) is an Open-label Study to Evaluate the Long-Term Safety and Tolerability of AOC 1044 Administered Intravenously to DMD Participants with Mutations Amenable to Exon 44 Skipping.

A Study to Investigate the Safety and Biodistribution of a Single Intrathecal (IT) Injection of INS1201 in Ambulatory Males With Duchenne Muscular Dystrophy (DMD)

The primary objective of this study is to evaluate the safety and tolerability of a single dose of INS1201 via IT administration in ambulatory male participants with DMD.

CureDuchenne Link®: A Resource for Research

CureDuchenne link is a data hub comprised of integrated biospecimens, clinical data, and self- and/or caregiver-reported information from participants. Anyone over 4 weeks old who has been diagnosed with DMD or BMD or who is a carrier of DMD or BMD can join. Parents or legal guardians can sign up their child(ren).

Efficacy, Safety and Tolerability of Givinostat in Non-ambulant Patients With Duchenne Muscular Dystrophy

This is a randomised, double-blind, placebo-controlled, multicentre study to evaluate the efficacy, safety, and tolerability of givinostat in non-ambulant male paediatric (aged 9 to \<18 years) patients with DMD. 138 patients will be randomised 2:1 to givinostat or placebo and will be treated for 18 months. * Planned screening duration: approximately 4 weeks (±14 days) * Planned treatment duration: 18 months (approximately 72 weeks) * Planned follow-up duration: 4 weeks (±7 days) (for patients not participating in the long-term safety study) * Total duration of study participation: up to 83 weeks (ie, 20-21 months)

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

The study will evaluate the safety and efficacy of gene therapy in boys with DMD. It is a randomized, double-blind, placebo-controlled study with two thirds of participants assigned to gene therapy. The one third of participants who are randomized to the placebo arm will have an opportunity for treatment with gene therapy at the beginning of the second year.

AFFINITY DUCHENNE: RGX-202 Gene Therapy in Participants With Duchenne Muscular Dystrophy (DMD)

RGX-202 is a gene therapy designed to deliver a transgene for a novel microdystrophin that includes functional elements of naturally-occurring dystrophin including the C-Terminal (CT) domain. This is a multicenter, open-label dose evaluation clinical study to assess the safety, tolerability, and clinical efficacy of a one-time intravenous (IV) dose of RGX-202 in participants with Duchenne.

Registry Study to Observe Long-term Safety of Vamorolone (AGAMREE®) in Patients With Duchenne Muscular Dystrophy-SUMMIT

The goal of this study is to collect additional information on the safety of long-term treatment with AGAMREE® and to explore long-term clinical impact of AGAMREE® on quality of life, as assessed by standardized patient-reported outcome measures (QoL questionnaires) in male patients aged 2 years and older with Duchenne muscular dystrophy (DMD).

Parent and Infant Inter(X)Action Intervention (PIXI)

The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays. Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers. The intervention, called the Parent and Infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.

A Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrophy (INSPIRE DUCHENNE)

This is a multicenter, open-label, non-randomized study to investigate the safety, tolerability, and efficacy of a single intravenous (IV) infusion of SGT-003 in participants with Duchenne muscular dystrophy. There will be 5 cohorts in this study. Cohort 1 will include participants 4 to \< 7 years of age. Cohort 2 will include participants 7 to \< 12 years of age. Cohort 3 will include participants 0 to \< 4 years of age. Cohort 4 will include participants 12 to \< 18 years of age. Cohort 5 will include participants 10 to \< 18 years of age. Initiation of participant enrollment in Cohorts 4 and 5 will be subject to the accrual of safety and efficacy data from Cohorts 1-3. All participants will receive SGT-003 and will be enrolled in the study for 5 total years for long-term follow up.

AFFINITY BEYOND: Anti-AAV8 Antibody Assessment Study of Males With DMD

This is an observational screening study to evaluate the prevalence of anti-adeno-associated serotype 8 (AAV8) antibodies in participants with Duchenne muscular dystrophy (DMD).

Early Check: Expanded Screening in Newborns

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.

A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular Dystrophy

The purpose of this study is to test the safety and tolerability of BMN 351 in participants with Duchenne Muscular Dystrophy (DMD) with a genetic mutation amenable to exon 51 skipping.