Clinical Trial Details
— Status: No longer available
Administrative data
| NCT number |
NCT03062631 |
| Other study ID # |
223019 |
| Secondary ID |
|
| Status |
No longer available |
| Phase |
|
| First received |
|
| Last updated |
|
Study information
| Verified date |
May 2023 |
| Source |
University of California, Davis |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Expanded Access
|
Clinical 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. 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.
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.
