Lesch-Nyhan Disease
Conditions
Keywords
Ecopipam, Lesch-Nyhan Disease, Safety, Self-Injurious Behavior
Brief summary
The purpose of this study is to determine the effects of ecopipam in patients with Lesch-Nyhan Disease (LND). Ecopipam specifically blocks the actions of one chemical in the brain that helps nerves talk to one another; ecopipam does this by stopping the chemical (dopamine) from binding to one of its family of receptors (i.e, the D1 family). LND is a very rare genetic disease. The sponsor is doing this study to find out what side effects ecopipam causes in LND patients, and whether ecopipam may be able to relieve the self-injurious behaviors seen in these patients.
Interventions
DRUGEcopipam
Tablets, once daily, for two weeks up to 200 mg/day
Sponsors
Psyadon Pharma
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
6 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* Diagnosis of Lesch-Nyhan disease with moderate to severe Self- Injurious Behavior and are routinely restrained * Male - 6 years of age and above * Body weight greater than or equal to 44 pounds
Exclusion criteria
* Taking Neuroleptic or Dopamine Depleting medications * Currently treated with medications for depression or seizures * Impaired renal function * Medical conditions that may interfere with completing the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of Participants With Clinically Significant Changes in Standard Laboratory Tests | Two weeks | This study's primary outcome is the safety of ecopipam in Lesch-Nyhan patients as measured by standard clinical laboratory tests. The patients will also be observed and questioned about other side effects, such as whether they feel more or less tired.Standard clinical laboratory tests for liver, kidney and blood function were conducted. The normal ranges for each of these tests were different and are too numerous to be individually listed here. However, if any individual value were to be either three-times greater or lesser than the upper or the lower limit of the test, then that value was considered to have been changed. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Decrease in Self-injurious Behavior at End of Study (Two Weeks After Screening) Compared to Screening | Screening visit and end of study (two weeks) | Change in the self-injurious subscale of the Behavior Problems Inventory (BPI). the BPI is a well-validate test to evaluate the frequency and severity of a patient's self-injurious behavior. Values range from 0 to 50, and a low score means few/less severe behaviors |
Countries
United States
Participant flow
Recruitment details
Patients were recruited by the investigators according to the inclusion and exclusion criteria
Pre-assignment details
No preassignment
Participants by arm
| Arm | Count |
|---|---|
| Ecopipam | 5 |
| Total | 5 |
Baseline characteristics
| Characteristic | Ecopipam |
|---|---|
| Age, Categorical <=18 years | 4 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 1 Participants |
| Age Continuous | 20.4 years STANDARD_DEVIATION 17.9 |
| Region of Enrollment United States | 5 participants |
| Sex: Female, Male Female | 0 Participants |
| Sex: Female, Male Male | 5 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | — / — |
| other Total, other adverse events | 5 / 5 |
| serious Total, serious adverse events | 2 / 5 |
Outcome results
Primary
Number of Participants With Clinically Significant Changes in Standard Laboratory Tests
This study's primary outcome is the safety of ecopipam in Lesch-Nyhan patients as measured by standard clinical laboratory tests. The patients will also be observed and questioned about other side effects, such as whether they feel more or less tired.Standard clinical laboratory tests for liver, kidney and blood function were conducted. The normal ranges for each of these tests were different and are too numerous to be individually listed here. However, if any individual value were to be either three-times greater or lesser than the upper or the lower limit of the test, then that value was considered to have been changed.
Time frame: Two weeks
Population: All patients were analyzed
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Ecopipam Treated Patients | Number of Participants With Clinically Significant Changes in Standard Laboratory Tests | 0 Participants |
Secondary
Decrease in Self-injurious Behavior at End of Study (Two Weeks After Screening) Compared to Screening
Change in the self-injurious subscale of the Behavior Problems Inventory (BPI). the BPI is a well-validate test to evaluate the frequency and severity of a patient's self-injurious behavior. Values range from 0 to 50, and a low score means few/less severe behaviors
Time frame: Screening visit and end of study (two weeks)
Population: All patients who received any dose of ecopipam were in the analysis population
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Ecopipam Treated Patients | Decrease in Self-injurious Behavior at End of Study (Two Weeks After Screening) Compared to Screening | 22.5 Change in BPI score | Standard Deviation 13.4 |