Congenital Myasthenic SyndromeNCT03062631
Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia
A study testing 3,4-Diaminopyridine in people with Congenital Myasthenic Syndrome, run by Ricardo Maselli at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 months to 75 years
- Conditions the study is for
- Congenital Myasthenic Syndrome
- What is being tested?
- 3,4-Diaminopyridine
- Type of treatment
- Pill or oral medicine
- How many people
- Not given
- Where
- 1 siteUnited States
- Study dates
- Start not givento not given
- Phase
- Expanded access
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 months to 75 years
- All sexes
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
University of California, Davis Medical Center
Sacramento, California, 95817
About this study
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.
Read the 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.
- Conditions
- Congenital Myasthenic Syndrome
- Being tested
- 3,4-Diaminopyridine
- Keywords
- Congenital Myasthenic Syndrome, 3,4 DAP, 3,4 Diaminopyridine
- Medical subject headings
- Myasthenic Syndromes, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
3,4-DiaminopyridineDrug
Also called 3,4-DAP
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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Feb 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Myasthenic SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Expanded access
Sponsor and investigators
- Lead sponsor
- Ricardo Maselli
- Sponsor type
- University, hospital or other
- Collaborators
- Catalyst Pharmaceuticals, Inc.
- Responsible party
- Sponsor-investigator, Ricardo Maselli, University of California, Davis
- Investigators
- Ricardo Maselli, MD, Principal investigator, University of California, Davis
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03062631
- Sponsor's protocol ID
- 223019
- Status last verified
- May 2023
- First submitted
- 21 Feb 2017
- Last updated
- 2 Jun 2023
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia
- ClinicalTrials.gov ID
- NCT03062631
- Acronym / sponsor ID
- 223019
- Conditions
- Congenital Myasthenic Syndrome
- Keywords
- Congenital Myasthenic Syndrome, 3,4 DAP, 3,4 Diaminopyridine
- Study type
- Expanded access
- Recruitment status
- No Longer Available
- Lead sponsor
- Ricardo MaselliUniversity, hospital or other
- Collaborators
- Catalyst Pharmaceuticals, Inc.
- First posted
- 23 Feb 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
Who may qualify
- Ages
- 3 months to 75 years
- Sex
- All
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 3,4-DiaminopyridineAlso: 3,4-DAPThe 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. | Drug | – |
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jun 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ricardo Maselli, MD principal investigator
University of California, Davis
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing 3,4-Diaminopyridine in people with Congenital Myasthenic Syndrome, run by Ricardo Maselli at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 2 Jun 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jun 2023; AzTrials last refreshed its copy on 8 Nov 2026.