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 36 weeks. They may continue with the study treatment until every participant has completed 40 weeks of treatment (about 9 months). The participants may also continue their regular treatment for their condition during the study.
During this study, participants visit the study site 13 times or more, depending on when they start their participation. The doctors check the health of the participants and note any health problems that could have been caused by BI 3000202.
Eligibility
Sex
ALL
Min age
18 Years
Max age
74 Years
Healthy volunteers
No
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.
Primary outcome measure(s)
Occurrence of any treatment-emergent adverse events assessed as related to study drug — Approximately 72 weeks
Trial sites (20)
Facility
City
Region
Status
University of California San Francisco
San Francisco
California
Children's Hospital of Philadelphia
Philadelphia
Pennsylvania
Texas Children's Hospital
Houston
Texas
Universitair Ziekenhuis Gent
Ghent
Belgium
Hôpital Gui de Chauliac
Montpellier
France
Hopital Necker
Paris
France
HOP Tenon
Paris
France
Universitätsklinikum Carl Gustav Carus Dresden
Dresden
Germany
Medizinische Hochschule Hannover
Hanover
Germany
Universitätsklinikum Tübingen
Tübingen
Germany
Barzilai Medical Center
Ashkelon
Israel
ASST degli Spedali Civili di Brescia
Brescia
Italy
Azienda Sanitaria Universitaria Giuliano Isontina
Trieste
Italy
ULS de Santa Maria, E.P.E
Lisbon
Portugal
ULS de Santo Antônio, E.P.E - Centro Hospitalar Universitário de Santo António
Porto
Portugal
Hospital Universitari Vall d'Hebron
Barcelona
Spain
Hospital Universitario La Paz
Madrid
Spain
Hospital Virgen del Rocio
Seville
Spain
Royal Infirmary of Edinburgh
Edinburgh
United Kingdom
Royal Free Hospital
London
United Kingdom
Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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