Study to evaluate the efficacy and safety of amifampridine phosphate drug in patients with Congenital Myasthenic Syndromes (CMS)

Phase 1

• Conditions: MedDRA version: 20.0Level: PTClassification code 10028424Term: Myasthenic syndromeSystem Organ Class: 10029205 - Nervous system disorders; Therapeutic area: Diseases [C] - Nervous System Diseases [C10]; Congenital myasthenic syndromes; MedDRA version: 20.0Level: LLTClassification code 10028425Term: Myasthenic syndromes in diseases classified elsewhereSystem Organ Class: 10029205 - Nervous system disorders

• Registration Number: EUCTR2018-000358-23-IT
• Lead Sponsor: CATALYST PHARMACEUTICALS INC.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2018-12-05
• Last Update Posted: 30 November 2020

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 23

Inclusion Criteria

- Patient or parent willing and able to provide written informed consent after the nature of the study has been explained and before the start of any research-related procedures, or the patient’s legal guardian or caregiver with durable power of attorney can provide written informed consent. An assent form must also be signed if in the judgement of the IRB/IEC/REB the children are capable of providing assent
- Male or female age 2 years and above
- 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
- In patients who are naïve to 3,4-DAP or amifampridine phosphate, MFM 20 or 32 score equal or less than 48 or 76, respectively, at Screening
- In patients who are naïve to 3,4-DAP or amifampridine phosphate, improvement of >20% in MFM 20 or MFM 32 scores after open label period of uptitration of dose
- In patients who are previously stabilized on 3,4-DAP or amifampridine phosphate, a history of meaningful improvement in motor function (in the opinion of the investigator)
- Willingness of patients receiving pyridostigmine, albuterol, ephedrine, or fluoxetine to remain on a stable dose of these medications throughout the study interval
- Female patients of childbearing potential must have a negative pregnancy test (serum human chorionic gonadotropin [HCG] at Screening); and must practice effective, reliable contraceptive regimen during the study. Acceptable methods of contraception include hormonal contraception (i.e., birth control pills, injected hormones, dermal patch or vaginal ring), intrauterine device, barrier methods (diaphragm, condom) with spermicide, or surgical sterilization (tubal ligation)
- Ability to participate in the study based on overall health of the patient and disease prognosis, as applicable, in the opinion of the investigator; and able to comply with all requirements of the protocol

Are the trial subjects under 18? yes
Number of subjects for this age range: 7
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 14
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range 2

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
- Clinically significant abnormal laboratory values at Screening, in the opinion of the investigator
- Pregnancy or breastfeeding at Screening or planning to become pregnant at any time during the study
- Any systemic bacterial or other infection, which is clinically significant in the opinion of the investigator and has not been treated with appropriate antibiotics
- Treatment with an investigational drug (other than 3,4-DAP or amifampridine phosphate), device, or biological agent within 30 days before Screening or while participating in this study
- Any other medical condition that, in the opinion of the investigator, might interfere with the patient’s participation in the study, poses an added risk for the patient, or confounds the assessment of the patient
- History of drug allergy to any pyridine-containing substances or any amifampridine phosphate excipient(s)

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified