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

Launched by BOEHRINGER INGELHEIM · Mar 13, 2025

Keywords

ClinConnect Summary

This clinical trial is studying a new medication called BI 3000202 to see how well it is tolerated by adults with specific types of conditions known as type 1 interferonopathies, which are caused by gene mutations. If you or a loved one has Aicardi-Goutières syndrome, COPA syndrome, Familial chilblain lupus, or another related condition, you might be eligible to join the study. Participants need to be between 18 and 75 years old and have a confirmed genetic diagnosis of one of these conditions.

During the trial, participants will take BI 3000202 in tablet form for a total of 12 weeks—first at a lower dose for 4 weeks, and then at a higher dose for 8 weeks. They will have regular check-ups, visiting the study site about 9 times over six months, where doctors will monitor their health and any side effects from the medication. Participants can continue their usual treatments during this time. This study is not yet recruiting, but it promises to provide important information about how this new medication may help those living with these conditions.

Gender

ALL

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. Non-vasectomised male trial participants whose sexual partner is a woman of childbearing potential must be ready and able to use male contraception.
• 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.
• • Further exclusion criteria apply.