Clinical trial NCT06878365: A Study to Test How Well BI 3000202 is Tolerated by People With Type 1 Interferonopathies
Official title: Single-arm Open-label Trial to Assess Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BI 3000202 in Adult Patients With Selected Type 1 Interferonopathies
Study type: INTERVENTIONAL
Overall status: NOT_YET_RECRUITING
Phase: PHASE1
Conditions: Type 1 Interferonopathies
Lead sponsor: Boehringer Ingelheim
Sponsor class: INDUSTRY
First posted: 2025-03-17
Enrollment: 18
Sex: ALL
Minimum age (years): 18
Maximum age (years): 74
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: This study is open to adults with selected type 1 interferonopathies. People can join the study if they have Aicardi-Goutières syndrome (AGS), Coatomer subunit alpha (COPA) syndrome, Familial chilblain lupus (FCL), or another type 1 interferonopathy with a specific gene mutation.

The purpose of this study is to find out how BI 3000202 is tolerated in people with selected type 1 interferonopathies. Participants take a lower dose of BI 3000202 as tablets for 4 weeks. Afterwards, they take a higher dose of BI 3000202 as tablets for 8 weeks. The participants may continue their regular treatment for their condition during the study.

Participants are in the study for about 6 months. During this time, they visit the study site 9 times. The doctors check the health of the participants and note any health problems that could have been caused by BI 3000202.


Eligibility criteria: Inclusion Criteria:

* Male and female adult patients from ≥18 years (or alternative age for adults based on local regulations) to \<75 years.
* Genetic diagnosis with mutations in the following affected genes: three prime repair exonuclease 1 (TREX1), ribonuclease H2 subunit A, B or C (RNASEH2B, RNASEH2C, RNASEH2A), SAM And HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 (SAMHD1), U7 Small Nuclear RNA Associated sm-like protein (LSM11), RNA component of the U7 snRNP (RNU7-1) for AGS; Coatomer subunit alpha (COPA) for COPA syndrome; TREX1, SAM And HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 (SAMHD1) for Familial chilblain lupus (FCL); DNA nuclease 2 (DNASE2), Adenosine triphosphate synthase family AAA domain containing 3A (ATAD3A) for other type 1 interferonopathies. Genotype documented in medical history is sufficient for eligibility determination and does not require confirmation. Variant identification as "pathogenic" or "likely pathogenic" is preferred according to a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. In the absence of such identification, clinical assessment of pathogenicity is required to be documented in the medical records.
* Patients may be either:

  * On standard of care, provided it is on stable doses
  * Not on standard of care
* If women of childbearing potential (WOCBP): must be ready and able to use highly effective methods of birth control.

Exclusion Criteria:

* Major chronic inflammatory or connective tissue disease other than selected type 1 interferonopathies, as assessed by the investigator.
* Increased risk of infectious complications based on investigator's judgement.
* Evidence of potential moderate to severe loss of kidney function.
* Evidence of hepatic impairment.
* If diagnosed with Aicardi-Goutières syndrome (AGS) or other interferonopathy with neurological involvement, AGS Severity Scale \>3.
* Further exclusion criteria apply.

Primary outcomes:
measure: Occurrence of any treatment-emergent adverse events assessed as related to study drug
timeFrame: Approximately 12 weeks
Secondary outcomes:
measure: Area under the concentration-time curve of BI 3000202 in plasma over a uniform dosing interval τ after administration of the first dose ( AUCτ,1)
timeFrame: At Day 1
measure: Maximum measured concentration of BI 3000202 in plasma after administration of the first dose (Cmax,1)
timeFrame: At Day 1
measure: Area under the concentration-time curve of BI 3000202 in plasma at steady state over a uniform dosing interval τ (AUC0-τ,ss)
timeFrame: At Days 29 and 85
measure: Maximum measured concentration of BI 3000202 in plasma at steady state (Cmax,ss)
timeFrame: At Days 29 and 85
measure: Predose concentration of BI 3000202 in plasma at steady state immediately before administration of the next dose (Cpre,ss)
timeFrame: At Days 29 and 85
measure: Change from baseline in interferon gene score (IGS)
timeFrame: At baseline, at Week 12
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Children's Hospital Los Angeles
state: California
city: San Francisco
country: United States
facility: University of California San Francisco
state: California
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Houston
country: United States
facility: Texas Children's Hospital
state: Texas
city: Gent
country: Belgium
facility: UNIV UZ Gent
city: Montpellier
country: France
facility: HOP Gui de Chauliac
city: Paris
country: France
facility: HOP Necker
city: Paris
country: France
facility: HOP Tenon
city: Dresden
country: Germany
facility: Universitätsklinikum Carl Gustav Carus Dresden
city: Ashkelon
country: Israel
facility: Barzilai Medical Center
city: Brescia
country: Italy
facility: ASST degli Spedali Civili di Brescia
city: Trieste
country: Italy
facility: Azienda Sanitaria Universitaria Giuliano Isontina
city: Lisboa
country: Portugal
facility: ULS de Santa Maria, E.P.E
city: Porto
country: Portugal
facility: ULS de Santo Antônio, E.P.E - Centro Hospitalar Universitário de Santo António
city: Barcelona
country: Spain
facility: Hospital Vall d'Hebron
city: Madrid
country: Spain
facility: Hospital La Paz
city: Sevilla
country: Spain
facility: Hospital Virgen del Rocío
city: London
country: United Kingdom
facility: Royal Free Hospital
Study officials:
References: