Activated PI3Kdelta Syndrome (APDS); PASLI Disease
Conditions
Keywords
APDS; PASLI; PI3Kdelta; p110delta-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency; Activated PI3Kdelta Syndrome;
Brief summary
This study is designed to provide long-term CDZ173 treatment, a selective PI3Kδ inhibitor, to the patients with genetically activated PI3Kδ, i.e., patients with APDS/PASLI who participated in the CCDZ173X2201 study or who were treated previously with PI3Kδ inhibitors other than CDZ173. The study is open-label designed to establish the long-term safety, tolerability, efficay and pharmacokinetics of CDZ173 in the target population.
Interventions
DRUGCDZ173
140 mg/day
Sponsors
Pharming Technologies B.V.
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
12 Years to 75 Years
Healthy volunteers
No
Inclusion criteria
* Written informed consent must be obtained before any assessment is performed. * Paients must have participated in the study CCDZ173X2201 or were treated previously with PI3Kδ inhibitors other than CDZ173. * Patients who are deemed by the Investigator to benefit from PI3Kδ inhibitor therapy. * Patients or their legal representatives (for patients under the age of 18 years) must be able to communicate well with the Investigator, to understand and comply with the requirements of the study. * Documented APDS/PASLI-associated genetic PI3K delta mutation.
Exclusion criteria
\- Any medically significant disease or condition that is unrelated to APDS/PASLI Other protocol-defined inclusion/
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To Evaluate the Number of Participants With (S)AEs During Treatment With CDZ173 | 6 years 3 months | Number of participants with adverse events reported, including serious adverse events |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| To Evaluate the Long Term Efficacy of CDZ173 Using SF-36 General Health Score | At baseline, after 1 year, after 3 years, after 4 years and after 5 years of study participation | SF-36 (Short Form 36) Survey general health score per participant reported for duration of particpation in study. Scores are reported on a scale of 0 - 100. All items are scored so that a high score defines a more favorable health state. |
Countries
Belarus, Czechia, Germany, Italy, Netherlands, Russia, United States
Baseline characteristics
| Characteristic | — |
|---|---|
| Age, Categorical <=18 years | 13 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 24 Participants |
| Age, Continuous | 22.7 years |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants |
| Race (NIH/OMB) Asian | 2 Participants |
| Race (NIH/OMB) Black or African American | 2 Participants |
| Race (NIH/OMB) More than one race | 0 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 2 Participants |
| Race (NIH/OMB) White | 31 Participants |
| Region of Enrollment Belarus | 1 participants |
| Region of Enrollment Czechia | 4 participants |
| Region of Enrollment Germany | 3 participants |
| Region of Enrollment Italy | 5 participants |
| Region of Enrollment Netherlands | 2 participants |
| Region of Enrollment Russia | 2 participants |
| Region of Enrollment United States | 20 participants |
| Sex: Female, Male Female | 16 Participants |
| Sex: Female, Male Male | 21 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 1 / 37 |
| other Total, other adverse events | 34 / 37 |
| serious Total, serious adverse events | 10 / 37 |
Outcome results
None listed