CANYON (22-0354)

• Investigator: Matthew Wicklund, MD
• Purpose: to learn about the safety, and effectiveness of EDG-5506 when compared to placebo in individuals diagnosed with Becker Muscular Dystrophy (BMD).
• Intervention: EDG-5506 (at least 66% chance) or placebo (no greater than 33% chance).
• Timeline: 10 in-person study visits over 14 months.
• ClinicalTrials.gov Identifier: NCT05291091
• Key Eligibility Criteria:
  • Age: 12-50 years old
  • Diagnosis: Becker Muscular Dystrophy (BMD)
  • Gender: male at birth
  • Able to walk 100m without assistance
    

GRASP BMD (22-1278)

• Investigator: Stacy Dixon, MD, PhD
• Purpose: to learn more about Becker Muscular Dystrophy (BMD) by measuring how your muscles change over time. This information will help plan future studies and drug development for people with BMD.
• Timeline: 5 in-person study visits over 24 months.
• ClinicalTrials.gov Identifier: NCT05257473
• Key Eligibility Criteria:
  • Age: 8+ years old
  • Diagnosis: Becker Muscular Dystrophy (BMD)
    

Genetics of CMT (20-1525)

• Investigator: Vera Fridman, MD  
• Purpose: to look for new genes that cause Charcot Marie Tooth disease (CMT) and to look for genes that don’t cause CMT, but may modify the symptoms a person has.
• ClinicalTrials.gov Identifier: NCT01193088 
• Key Eligibility Criteria:
  • Diagnosis: Charcot Marie Tooth (CMT) or have a relative with CMT

Natural History of CMT (18-2537)

• Investigator: Vera Fridman, MD  
• Purpose: observational, longitudinal study to determine natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT).
• ClinicalTrials.gov Identifier: NCT01193075  
• Key Eligibility Criteria:
  • Diagnosis: CMT or have a relative with CMT
    

DN (19-3004)

• Study Title: Participants Needed for Research Study About Diabetes and Neuropathy.
• Investigator: Vera Fridman, MD
• Purpose: to learn more about the underlying causes of diabetic neuropathy by looking for the presence of abnormal molecules in the blood and skin and comparing them in people with and without Type 2 Diabetes.
• Procedures: blood draw, skin biopsy, neurological and physical exam, autonomic nervous system testing, nerve conduction study, questionnaires and balance, coordination, and agility tests.
• Timeline: 2 study visits which will occur within 30 days of each other.
• Key Eligibility Criteria:
  • Age: 45-65 years old
  • Diagnosis: Type 2 Diabetes (T2D)

MOVE FSHD (20-0405)

• Investigator: Matthew Wicklund, MD  
• Purpose: to collect motor and functional outcomes specific to Facioscapulohumeral Muscular Dystrophy (FSHD) over time to ensure the best level of clinical care and to speed up drug development by gaining a better understanding of how having FSHD impacts motor function and other health outcomes.
• Timeline: 1 study visit per year for 3 years.
• ClinicalTrials.gov Identifier: NCT04635891 
• Key Eligibility Criteria:
  • Diagnosis: Facioscapulohumeral Muscular Dystrophy (FSHD) Type 1 or 2
  • Genetically confirmed or family history and functionally affected
    

Fortify (23-0309)

• Investigator: Thomas Ragole, MD
• Purpose: to learn more about the safety of BBP-418 and to find out what effects (both good and bad) it has on people with Limb Girdle Muscular Dystrophy Type 2I (LGMD2I/R9).
• Intervention: BBP-418 (66% chance) or placebo (33% chance).
• Timeline: Screening and Baseline period (approx. 7-28 days), Double-Blind Study Treatment period (approx. 36 months) and Follow-up Visit (approx. 30 days following last dose of study drug).
• ClinicalTrials.gov Identifier: NCT05775848
• Key Eligibility Criteria:
  • Age: 12-60 years (inclusive)
  • Diagnosis: Limb Girdle Muscular Dystrophy Type 2I (LGMD2I/R9)
  • Body weight: >30 kg
    

GRASP LGMD (19-0506)

• Investigator: Stacy Dixon, MD, PhD
• Purpose: to learn more about Limb Girdle Muscular Dystrophy (LGMD) by measuring how your muscles change over time.
• Timeline: 4-5 study visits over 12 months.
• ClinicalTrials.gov Identifier: NCT03981289
• Key Eligibility Criteria:
  • Age 4-65 years old
  • Diagnosis: clinically affected Limb Girdle Muscular Dystrophy (LGMD) (weakness in limb girdle pattern or in distal extremity)
    

TREATing-LGMDR1 (23-1472)

• Investigator: Stacy Dixon, MD, PhD
• Purpose: to learn more about Limb Girdle Muscular Dystrophy type R1 (LGMDR1) and what effects it has on you during disease progression.
• Procedures: blood draw, urine sample collection, spirometry, physical tasks, physical exam, MRI and questionnaires.
• Timeline: 4 clinic visits for 3 study visits (Baseline Day 1, Baseline Day 2, Month 12, Month 24).
• ClinicalTrials.gov Identifier: NCT05618080
• Key Eligibility Criteria:
  • Age: between 12-50 at enrollment
  • Diagnosis: Limb Girdle Muscular Dystrophy type R1 (LGMDR1)
    

DOMYA (23-1307)

• Investigator: Thomas Ragole, MD
• Purpose: to assess the effectiveness and safety of an investigational digital tool called ME&MG, which allows patients with generalized Myasthenia Gravis (gMG) to self-monitor their symptoms.
• Device: ME&MG smartphone application (investigational software as a medical device).
• Timeline:Screening/Inclusion visit (Day 0), Follow-up Visit at 3 months (Day 90), and End-of-study Visit at 12 months (Day 365).
• ClinicalTrials.gov Identifier: NCT05564936
• Key Eligibility Criteria:
  • Age: 18 years to 60 years
  • Diagnosis: generalized Myasthenia Gravis (gMG)
  • Owning and able to use a personal smartphone which software version is above 14 for IOS and 8 for Android (included)
    

FLEX (22-2391)

• Investigator: Thomas Ragole, MD
• Purpose: to learn how well batoclimab works and how safe it is, when compared with placebo (an inactive material that looks like batoclimab but does not have any active drug).
• Intervention: batoclimab or placebo (chance of receiving batoclimab will vary between Periods).
• Timeline: Screening Period of up to 4 weeks, two 12-week Treatment Periods (referred to as Period 1 and Period 2), a 52-week Long-Term Extension Period (referred to as Period 3), and a 4 week Follow-up Period. Total study duration: approximately 84 weeks (1 ½ years), approximately 34 study visits.
• ClinicalTrials.gov Identifier: NCT05403541
• Key Eligibility Criteria:
  • Age: ≥ 18 years
  • Diagnosis: mild to severe Generalized Myasthenia Gravis (gMG)
  • Have diagnostic autoantibody (AChRAb+, anti-MuSK+, or anti-LRP4+) confirmation of gMG at the Screening Visit
    

Prevail (22-1330)

• Investigator: Thomas Ragole, MD
• Purpose: to determine if the study medication (ALXN1720) is safe and effective in the treatment of generalized Myasthenia Gravis (gMG).

• Intervention: ALXN1720 (50% chance) or placebo (50% chance).
• Timeline: 24 in-person visits over 2.5 years.
• ClinicalTrials.gov Identifier: NCT05556096
• Key Eligibility Criteria:
  • Age: 18+ years old
  • Diagnosis: generalized Myasthenia Gravis (gMG)
    

END-DM1 (21-4907)

• Investigator: Thomas Ragole, MD
  
• Purpose: to determine the best ways to assess how people are affected by Myotonic Dystrophy Type 1 (DM1).  The study will examine the effects of DM1 on your muscles, heart, blood, and nervous system.
• Timeline: up to 4 in person study visits over 2 years.
• ClinicalTrials.gov Identifier: NCT03981575 
• Key Eligibility Criteria:
  • Age: 18-70 years old
  • Diagnosis: Myotonic Dystrophy Type 1 (DM1)

WeSMA (22-0296)

• Investigator: Stacy Dixon, MD, PhD
• Purpose: to follow patients receiving Evrysdi (risdiplam) for a long time. This will add to the body of evidence about the safety and effectiveness of Evrysdi.
• Intervention: Evrysdi.
• Timeline: visits every 6 months for up to 5 years.
• ClinicalTrials.gov Identifier:  NCT05232929 
• Key Eligibility Criteria:
  • Diagnosis: Spinal Muscular Atrophy (SMA)
  • Currently prescribed Evrysdi