Clinical Research Study Viewer

Phase 3 Study to Evaluate the Efficacy and Safety of Amifampridine Phosphate in Patients with Congenital Myasthenic Syndromes (CMS)

Study Details

Principal Investigator

Samiah A. Al-Zaidy, MD, Nationwide Children’s Hospital

Study Title and Phase

Multicenter, Double-blind, Placebo-controlled, Randomized, Outpatient Two-period Two-Treatment Crossover Study to Evaluate the Efficacy and Safety of Amifampridine Phosphate (3,4-Diaminopyridine Phosphate) in Patients with Congenital Myasthenic Syndromes (CMS), Phase 3

Study Duration

63 days (screening period excluded, can last up to 14 days)

Inclusion Criteria

  • Male or female age 2 years or older
  • Body weight ≥ 10 kg
  • Genetically-confirmed CMS (involving acetylcholine receptor defect, Rapsyn deficiency, MuSK deficiency, Dok-7 deficiency, SYT2 mutations, SNAP25B deficiency, and fast channel syndrome)
  • MFM 20 or 32 score equal or less than 48 to 76, respectively, at screening
  • If patient is naïve to amifampridine, improvement of >20% in MFM20 or MFM32 scores after open label period of uptitration of dose.
  • If patient was previously on 3,4- DAP, history of meaningful improvement in motor function.
  • Willingness to remain on stable dose of medications throughout study interval (medications include: pyridostigmine, prednisone, albuterol, ephedrine, or fluoxetine)
  • Females of childbearing age must have negative pregnancy test and be willing to use reliable contraceptives throughout the study.
  • Ability to participate in study based on overall health of patient and disease prognosis, as determined by the investigator.


Exclusion Criteria

  • CMS subtype diagnosis of acetylcholinesterase deficiency, slow-channel syndrome, LRP4 deficiency, and plectin deficiency
  • Cardiac conduction defects on screening electrocardiogram (ECG)
  • Seizure disorder
  • Clinical significant abnormal laboratory values at screening
  • Pregnant or breastfeeding
  • Any systemic bacterial or other infection
  • Treatment with investigational drug (other than amifampridine or amifampridine phosphate), device, biological agent within 30 days before screening or during study
  • Any other medical condition that might interfere with the study, in the opinion of the investigator
  • History of drug allergy to any pyridine-containing substances or any amifampridine or amifampridine phosphate excipient(s)

Coordinator Contact Information

Alana Mahley

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Nationwide Children's Hospital
700 Children's Drive Columbus, Ohio 43205 614.722.2000