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

Boehringer Ingelheim

Status and phase

Begins enrollment this month

Phase 1

Conditions

Type 1 Interferonopathies

Treatments

Drug: BI 3000202_high dose

Drug: BI 3000202_low dose

Study type

Interventional

Funder types

Industry

Identifiers

NCT06878365

1509-0003

2024-514942-35-00 (Registry Identifier)

U1111-1309-4909 (Other Identifier)

Details and patient eligibility

About

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.

Enrollment

18 estimated patients

Sex

All

Ages

18 to 74 years old

Volunteers

No Healthy Volunteers

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.