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NCT06878365 | NOT YET RECRUITING | Type 1 Interferonopathies

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

Condition or disease

Type 1 Interferonopathies

Intervention/treatment

BI 3000202_low dose

BI 3000202_high dose

Phase

PHASE1

Study Type : INTERVENTIONAL
Estimated Enrollment : 18 participants
Masking : NONE
Primary Purpose : TREATMENT
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
Actual Study Start Date : 2025-04-14
Estimated Primary Completion Date : 2026-06-01
Estimated Study Completion Date : 2026-09-02

Information not available for Arms and Intervention/treatment

Ages Eligible for Study: 18 Years to 74 Years
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
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.
A Study to Test How Well BI 3000202 is Tolerated by People With Type 1 Interferonopathies

Location Details

NCT06878365

Please Choose a site

How to Participate

Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.

Locations

Not yet recruiting

United States, California

Children's Hospital Los Angeles

Los Angeles, California, United States, 90027

Not yet recruiting

United States, California

University of California San Francisco

San Francisco, California, United States, 94121

Not yet recruiting

United States, Pennsylvania

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States, 19104

Not yet recruiting

United States, Texas

Texas Children's Hospital

Houston, Texas, United States, 77030

Not yet recruiting

Belgium,

Univ use Gent

Gent, Belgium, 9000

Not yet recruiting

France,

Hop Gui de Chauliac

Montpellier, France, 34295

Not yet recruiting

France,

HOP Necker

Paris, France, 75015

Not yet recruiting

France,

HOP Tenon

Paris, France, 75020

Not yet recruiting

Germany,

University Hospital Carl Gustav Carus Dresden

Dresden, Germany, 01307

Not yet recruiting

Israel,

Barzilai Medical Center

Ashkelon, Israel, 7830604

Not yet recruiting

Italy,

AST of the Civil Spedali di Brescia

Brescia, Italy, 25123

Not yet recruiting

Italy,

Giuliano Isontina University Health Authority

Trieste, Italy, 34124

Not yet recruiting

Portugal,

ULS of St. Mary, E.P.E

Lisboa, Portugal, 1649-035

Not yet recruiting

Spain,

Vall d'Hebron Hospital

Barcelona, Spain, 08035

Not yet recruiting

Spain,

La Paz Hospital

Madrid, Spain, 28046

Not yet recruiting

Spain,

Virgen del Rocío Hospital

Sevilla, Spain, 41013

Not yet recruiting

United Kingdom,

Royal Free Hospital

London, United Kingdom, Drainage