Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia

May 30, 2023 updated by: Ricardo Maselli

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.

Study Overview

Status

No longer available

Conditions

Intervention / Treatment

Detailed Description

The subject population will consist of selected patients proven by genetic testing, muscle biopsy or antibody testing to have CMS. Consideration for entry in our clinical study will require referral from a treating pediatrician or neurologist. Dr. Maselli will examine patients and deem which are appropriate for neurophysiologic examinations at the University of California, Davis Medical Center. In vitro neuromuscular recordings of anconeus muscle biopsy material (as well as standard light and electron morphologic analysis) or documentation of a genetic mutation associated with congenital myasthenia will be required in some patients to confirm the diagnosis of CMS.

If a participant decides to volunteer, and if the diagnosis of Congenital Myasthenic Syndrome (CMS) has not been established, the participant may need to undergo a muscle biopsy or a blood sampling for DNA testing. The investigators will obtain a blood test (serum chemistry) before participants start treatment and then once a year after the start of 3,4-DAP treatment. Participants will also have an electrocardiograph (EKG) before starting treatment, and every 2 years after the start of 3,4-DAP treatment. All study participants will then return to the clinic once each year (or more often if the neurologist feels it is necessary) for follow-up care.

Participants will receive treatment with the study drug until it is approved by the FDA for use in patients with CMS, until the investigator stops the study drug (because it doesn't work for the participant or it is unsafe for to take), or until the study is ended for other reasons (i.e. safety concerns are discovered, etc.), whichever comes first. Participants will be allowed to stay on other medications for myasthenia or add other medications to treat their condition, as necessary.

If participants have an unclear history of episodes resembling seizures as determined by the investigator, they should not to drive or operate heavy machinery for the first 6 months of the study.

Participants may not participate in this study if they are pregnant or breastfeeding or if they are a woman of childbearing potential who plans to become pregnant while on the study. It is unclear how 3,4 DAP can effect an unborn fetus. Therefore, women of childbearing potential will have a pregnancy test prior to starting the study drug and periodically throughout the study, if needed. Participants who think they may have become pregnant during the study should tell the study doctor immediately.

Study Type

Expanded Access

Expanded Access Type

  • Individual Patients
  • Treatment IND/Protocol

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • Sacramento, California, United States, 95817
        • University of California, Davis Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 months to 75 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

N/A

Description

Inclusion Criteria:

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

Exclusion Criteria:

  1. Pregnancy
  2. History of allergic reactions to pyridines
  3. 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Ricardo Maselli

Collaborators

Catalyst Pharmaceuticals, Inc.

Investigators

  • Principal Investigator: Ricardo Maselli, MD, University of California, Davis

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

First Submitted

February 21, 2017

First Submitted That Met QC Criteria

February 21, 2017

First Posted (Actual)

February 23, 2017

Study Record Updates

Last Update Posted (Actual)

June 2, 2023

Last Update Submitted That Met QC Criteria

May 30, 2023

Last Verified

May 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 223019

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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