Try the modernized beta website. Learn more about the modernization effort.
Working… Menu

Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03062631
Expanded Access Status : Available
First Posted : February 23, 2017
Last Update Posted : April 25, 2022
Jacobus Pharmaceutical
Information provided by (Responsible Party):
Ricardo Maselli, University of California, Davis

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) or Lambert-Eaton Myasthenic Syndrome (LEMS). We will evaluate the patient for CMS or LEMS, prescribe 3,4 DAP, and then clinically evaluate the response.

Condition or disease Intervention/treatment
Congenital Myasthenic Syndrome Drug: 3,4-Diaminopyridine

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.

Layout table for study information
Study Type : Expanded Access
Expanded Access Type : Individual Patients, Treatment IND/Protocol
Official Title: Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia

Intervention Details:
  • Drug: 3,4-Diaminopyridine
    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.
    Other Name: 3,4-DAP

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   3 Months to 75 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03062631

Layout table for location contacts
Contact: Janelle Butters, MSN, FNP-C 916-734-6276
Contact: Colleen Stone 916-734-6231

Layout table for location information
United States, California
University of California, Davis Medical Center Available
Sacramento, California, United States, 95817
Sponsors and Collaborators
Ricardo Maselli
Jacobus Pharmaceutical
Layout table for investigator information
Principal Investigator: Ricardo Maselli, MD University of California, Davis
Layout table for additonal information
Responsible Party: Ricardo Maselli, Professor, University of California, Davis Identifier: NCT03062631    
Other Study ID Numbers: 223019
First Posted: February 23, 2017    Key Record Dates
Last Update Posted: April 25, 2022
Last Verified: April 2022
Keywords provided by Ricardo Maselli, University of California, Davis:
Congenital Myasthenic Syndrome
3,4 DAP
3,4 Diaminopyridine
Additional relevant MeSH terms:
Layout table for MeSH terms
Lambert-Eaton Myasthenic Syndrome
Myasthenic Syndromes, Congenital
Myasthenia Gravis
Paraneoplastic Syndromes, Nervous System
Nervous System Neoplasms
Neoplasms by Site
Paraneoplastic Syndromes
Autoimmune Diseases of the Nervous System
Nervous System Diseases
Neurodegenerative Diseases
Neuromuscular Junction Diseases
Neuromuscular Diseases
Autoimmune Diseases
Immune System Diseases
Genetic Diseases, Inborn
Neuromuscular Agents
Peripheral Nervous System Agents
Physiological Effects of Drugs
Potassium Channel Blockers
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action