Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia

NCT03062631 | Unknown

• 1 other identifier: 223019
• Study Type: expanded_access
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

Congenital myasthenia is a potentially lethal disorder, which, even with careful management, significantly impedes participation in normal daily functions. Currently approved therapies have had little impact on promoting a normal quality of life activity in these patients. The goal is to systematically examine the effect of 3,4-DAP on the natural course of this disease and to gain additional experience in titrating 3,4-DAP with other available therapies to maximize clinical function and development in this patient population. The specific aim of this study is to evaluate the use of 3,4 Diaminopyridine (DAP) on selected patients proven by genetic or serum antibody testing to have Congenital Myasthenic Syndrome (CMS), prescribe 3,4 DAP, and then clinically evaluate the response.

Conditions

Congenital Myasthenic Syndrome

Keywords

Congenital Myasthenic Syndrome; 3,4 DAP; 3,4 Diaminopyridine

Interventions

3,4-Diaminopyridine DRUG

The investigator will prescribe an initial dose of 3,4 diaminopyridine (DAP) by mouth based on the participant's weight. This initial dose may be modified later according to the participant's response to treatment.

Also known as: 3,4-DAP

Eligibility Criteria

• Age: 3 Months - 75 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Proven by genetic testing, muscle biopsy or antibody testing to have CMS.
• Age of 3 months - 75 years old.
• Willing to take a pregnancy test if female and of child-bearing age.
• Available for the minimum time commitment (annual visit) required for the study.

You may not qualify if:

• Pregnancy
• History of allergic reactions to pyridines
• History of confirmed seizures in the opinion of the study investigator, liver disease, or cardiac arrhythmias. Subjects with a questionable history of episodes that are not clearly seizures as determined by the investigator may participate.

Sponsors & Collaborators

• Ricardo Maselli: lead
• Catalyst Pharmaceuticals, Inc.: collaborator

Study Sites (1)

University of California, Davis Medical Center

Sacramento, California, 95817, United States

Location

MeSH Terms

Conditions

Myasthenic Syndromes, Congenital

Interventions

Amifampridine

Condition Hierarchy (Ancestors)

Neuromuscular Junction Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

4-Aminopyridine; Aminopyridines; Amines; Organic Chemicals; Pyridines; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds

Study Officials

• Ricardo Maselli, MD

  University of California, Davis

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: expanded access
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: February 21, 2017
• First Posted: February 23, 2017
• Last Updated: June 2, 2023

Record last verified: 2023-05

Locations

US (1)