Clinical trials: Congenital Myopathies
Duchenne Muscular Dystrophy
Evaluation of Home Based Assessments on Participants With DMD
This study is designed to evaluate the feasibility, wearability and participant satisfaction of novel outcome assessment tools in DMD patients which are performed in the home environment.
- Trial name
- NCT05657938
- Testing
- Wearable Device, Duchenne Video Assessment (DVA)
- Where
- United States
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Solid Biosciences Inc.
Limb-Girdle Muscular Dystrophy, Type 2D
A Gene Transfer Therapy Study to Evaluate the Safety of SRP-9004 (Patidistrogene Bexoparvovec) in Participants With Limb-Girdle Muscular Dystrophy, Type 2D (LGMD2D)
This is an open-label, dose escalation gene transfer therapy study evaluating the safety of SRP-9004 (patidistrogene bexoparvovec) via isolated limb infusion (ILI) administration in approximately 6 participants with LGMD2D.
- Trial name
- NCT01976091
- Testing
- SRP-9004
- Volunteers
- 6 people
- Sponsor
- Sarepta Therapeutics, Inc.
Duchenne Muscular Dystrophy (DMD), Muscular Dystrophy, Duchenne
Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO)
The purpose of the study is to assess the efficacy, safety, and tolerability of zeleciment rostudirsen (DYNE-251) administered intravenously (IV) every 4 weeks to ambulatory Duchenne muscular dystrophy (DMD) participants, 4 to 18…
- Conditions
- Duchenne Muscular Dystrophy (DMD), Muscular Dystrophy, Duchenne, Muscular Dystrophy (DMD), DMD
- Trial name
- FORZETTO (NCT07608432)
- Testing
- Zeleciment Rostudirsen (DYNE-251)
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- Dyne Therapeutics
Myalgia, Hypercholesterolemia
Study of the Safety and Tolerability Associated With PPD10558 Versus Atorvastatin in Patients Previously Intolerant to Statins Due to Statin-associated Myalgia (SAM)
The purpose of this study is to assess the incidence of statin-associated myalgia (SAM) with treatment with PPD10558 versus atorvastatin in patients previously intolerant to statins.
- Conditions
- Myalgia, Hypercholesterolemia, Hyperlipidemia
- Trial name
- NCT01279590
- Testing
- PPD10558, Atorvastatin
- Where
- 67 sites in United States
- Volunteers
- 282 people
- Sponsor
- Furiex Pharmaceuticals, Inc
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
CRD007 for the Treatment of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and Symptomatic Carriers
This is an investigation of the efficacy and safety of CRD007 in Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD) and symptomatic carriers.
- Trial name
- NCT01540604
- Testing
- CRD007
- Where
- Sweden
- Sponsor
- RSPR Pharma AB
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy Video Assessment Registry
ARISE is a prospective and longitudinal clinical study of individuals with Duchenne Muscular Dystrophy (DMD) aimed at creating a database of functional motor abilities in this population to support validation efforts of the…
- Trial name
- ARISE (NCT05712447)
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- The Emmes Company, LLC
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
A Phase 2b Study of Zagociguat in Patients With MELAS
PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs.
- Trial name
- PRIZM (NCT06402123)
- Testing
- zagociguat 15mg, zagociguat 30mg
- Where
- 20 sites in United States, Australia and 4 more
- Volunteers
- 43 people
- Sponsor
- Tisento Therapeutics
DMD, Duchenne Muscular Dystrophy
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.
- Conditions
- DMD, Duchenne Muscular Dystrophy, Duchenne, Exon 44
- Trial name
- EXPLORE44OLE (NCT06244082)
- Testing
- AOC 1044
- Where
- 10 sites in United States
- Volunteers
- 39 people
- Sponsor
- Avidity Biosciences, Inc.
Duchenne Muscular Dystrophy (DMD)
A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping to Evaluate the Safety and Efficacy of ENTR-601-45
This is a study of the investigational medicine ENTR-601-45 in participants who have Duchenne muscular dystrophy (DMD), a rare genetic condition.
- Trial name
- ELEVATE-45 (NCT07038824)
- Testing
- ENTR-601-45
- Where
- 15 sites in Belgium, Italy and 3 more
- Volunteers
- 24 people
- Sponsor
- Entrada Therapeutics, Inc.
Muscular Dystrophies, Spinal Muscular Atrophy
Schulze Muscular Dystrophy Ability Clinical Study
The primary objective of the Schulze study is to evaluate the function of the upper limbs of subjects diagnosed with neuromuscular disorders, with and without use of the Abilitech Assist device in the clinic and home…
- Conditions
- Muscular Dystrophies, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Limb Girdle Muscular Dystrophy
- Trial name
- NCT05409079
- Testing
- Abilitech Assist
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- AbiliTech Medical Inc.
Autosomal Dominant Hypocalcemia (ADH)
Efficacy and Safety of Encaleret Compared to Standard of Care in Participants With ADH1
The primary purpose of the study is to understand the effectiveness, safety, and tolerability of encaleret when compared to standard of care (SoC) treatment in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1).
- Trial name
- CALIBRATE (NCT05680818)
- Testing
- Encaleret, Standard of Care
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 67 people
- Sponsor
- Calcilytix Therapeutics, Inc., a BridgeBio company
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Duchenne and Becker Muscular Dystrophy, Polycytemia Vera
Placebo-Corrected Effects of Therapeutic Dose (100 mg) and Supratherapeutic Dose (300 mg) of ITF2357 (Givinostat) and Moxifloxacin on QT/QTC Interval
The study will evaluate the effect of a therapeutic dose and a supratherapeutic dose of ITF2357 on the QT/QTc interval.
- Trial name
- NCT04821063
- Testing
- ITF2357 10 mg/mL, Moxifloxacin Hydrochloride
- Where
- Canada
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Italfarmaco
Congenital Myotonic Dystrophy
Tideglusib: Expanded Access Use in Congenital Myotonic Dystrophy
This treatment plan is limited to a single patient with Congenital Myotonic Dystrophy, who is ineligible or otherwise unable to participate in ongoing clinical trials.
- Trial name
- NCT07119775
- Testing
- Tideglusib
- Sponsor
- AMO Pharma Limited
X-Linked Myotubular Myopathy
Study of ASP2957 in Male Participants With X-linked Myotubular Myopathy Who Need Ventilators
X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no approved therapies for XLMTM.
- Trial name
- NCT07052929
- Testing
- ASP2957, Methylprednisolone, Prednisolone
- Where
- 5 sites in United States, Canada
- Volunteers
- 9 people
- Sponsor
- Astellas Gene Therapies
Duchenne Muscular Dystrophy
Open Label, Extension Study of PRO044 in Duchenne Muscular Dystrophy (DMD)
The purpose of this study is to see whether PRO044 is safe and effective to use as medication for Duchenne Muscular Dystrophy (DMD) patients with a mutation around location 44 in the DNA for the dystrophin protein.
- Trial name
- NCT02329769
- Testing
- PRO044 SC 6 mg/kg, PRO044 IV 6 mg/kg, PRO044 IV 9 mg/kg
- Where
- 5 sites in Belgium, Italy and 2 more
- Volunteers
- 15 people
- Sponsor
- BioMarin Pharmaceutical
Duchenne Muscular Dystrophy
A Study of ATL1102 or Placebo in Participants With Non-ambulatory Duchenne Muscular Dystrophy
This Phase IIb study is a two part, multicenter study to evaluate the efficacy, safety, pharmacokinetics and pharmacodynamics of ATL1102 in non-ambulant boys with Duchenne Muscular Dystrophy aged 10 to <18 years old.
- Trial name
- NCT05938023
- Testing
- ATL1102 25mg, ATL1102 50mg
- Where
- 13 sites in Australia, Bulgaria and 3 more
- Volunteers
- 48 people
- Sponsor
- Percheron Therapeutics
Duchenne Muscular Dystrophy
Long Term Follow-up for RGX-202
RGX-202-5101 is a long-term follow up study that evaluates the long-term safety and efficacy of RGX-202 in participants who have received RGX-202 (an investigative gene therapy designed to deliver a transgene for novel…
- Trial name
- NCT06491927
- Testing
- No Intervention
- Where
- 5 sites in United States
- Volunteers
- 66 people
- Sponsor
- REGENXBIO Inc.
Muscular Dystrophy, Facioscapulohumeral
Study of SRP-1001 in Adult and Adolescent Participants With Facioscapulohumeral Muscular Dystrophy Type 1
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics of SRP-1001 in participants with facioscapulohumeral muscular dystrophy Type 1 (FSHD1).
- Trial name
- NCT06131983
- Testing
- SRP-1001 for Injection
- Where
- 16 sites in Australia, Canada and 5 more
- Volunteers
- 60 people
- Sponsor
- Sarepta Therapeutics, Inc.
MELAS Syndrome, Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
A Study to Assess TTI-0102 vs Placebo in MELAS Patients
This is a randomized, double-blind, placebo-controlled study. Prior to treatment, patients will undergo a screening visit. If eligible, each subject will return for a Day 1 visit and will receive their first dose of…
- Trial name
- NCT06644534
- Testing
- TTI-0102
- Where
- 2 sites in France, Netherlands
- Volunteers
- 9 people
- Sponsor
- Thiogenesis Therapeutics, Inc.