A Study to Test How Well BI 3000202 is Tolerated by People With Type 1 Interferonopathies

Phase 1

Not yet recruiting

• Conditions: Type 1 Interferonopathies
• Interventions: Drug: BI 3000202_low dose; Drug: BI 3000202_high dose

• Registration Number: NCT06878365
• Lead Sponsor: Boehringer Ingelheim

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2025-03-13
• Study First Submitted QC: 2025-03-13
• Study First Posted: 2025-03-17
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-19
• Last Update Posted: 2025-05-20
• Study Start: 2025-05-26
• Primary Completion: 2026-12-06
• Study Completion: 2026-12-07

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 18

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
BI 3000202	BI 3000202_low dose	-
BI 3000202	BI 3000202_high dose	-

Primary Outcome Measures

Name	Time	Method
Occurrence of any treatment-emergent adverse events assessed as related to study drug	Approximately 12 weeks

Secondary Outcome Measures

Name	Time	Method
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)	At Day 1
Maximum measured concentration of BI 3000202 in plasma after administration of the first dose (Cmax,1)	At Day 1
Area under the concentration-time curve of BI 3000202 in plasma at steady state over a uniform dosing interval τ (AUC0-τ,ss)	At Days 29 and 85
Maximum measured concentration of BI 3000202 in plasma at steady state (Cmax,ss)	At Days 29 and 85
Predose concentration of BI 3000202 in plasma at steady state immediately before administration of the next dose (Cpre,ss)	At Days 29 and 85
Change from baseline in interferon gene score (IGS)	At baseline, at Week 12

Trial Locations

Locations (18)

UNIV UZ Gent; 🇧🇪 Gent, Belgium

HOP Gui de Chauliac; 🇫🇷 Montpellier, France

HOP Necker; 🇫🇷 Paris, France

HOP Tenon; 🇫🇷 Paris, France

Hospital La Paz; 🇪🇸 Madrid, Spain

Barzilai Medical Center; 🇮🇱 Ashkelon, Israel

ULS de Santo Antônio, E.P.E - Centro Hospitalar Universitário de Santo António; 🇵🇹 Porto, Portugal

Children's Hospital Los Angeles; 🇺🇸 Los Angeles, California, United States

University of California San Francisco; 🇺🇸 San Francisco, California, United States

Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States

Texas Children's Hospital; 🇺🇸 Houston, Texas, United States

Universitätsklinikum Carl Gustav Carus Dresden; 🇩🇪 Dresden, Germany

ASST degli Spedali Civili di Brescia; 🇮🇹 Brescia, Italy

Azienda Sanitaria Universitaria Giuliano Isontina; 🇮🇹 Trieste, Italy

ULS de Santa Maria, E.P.E; 🇵🇹 Lisboa, Portugal

Hospital Vall d'Hebron; 🇪🇸 Barcelona, Spain

Hospital Virgen del Rocío; 🇪🇸 Sevilla, Spain

Royal Free Hospital; 🇬🇧 London, United Kingdom