Background:
Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of the immune system caused by a mutation in the FAS gene. In ALPS, the body stores too many germ-fighting cells called lymphocytes. This can lead to an enlarged spleen and lymph nodes. Current treatments for ALPS can have many adverse effects. Better treatments for ALPS are needed.
Objective:
To test a study drug (soquelitinib) in people with ALPS.
Eligibility:
People aged 16 years and older with ALPS.
Design:
Participants will have 8 clinic visits and 6 remote visits within 1 year.
Participants will be screened. They will have a physical exam with blood and urine tests. Some may have tests of their lung function.
Soquelitinib is a tablet taken by mouth twice a day. Participants will record their doses and any symptoms on a paper or online form.
Blood tests and other procedures will be repeated during study visits. Three visits will include imaging scans. Participants will lie on a table that slides through a doughnut-shaped machine while X-rays capture pictures of the inside of their body.
Some participants may be able to remain in the study for a second year.
Aged >= 16 years.
Able to provide informed consent (for ages >= 18 years) or has a parent(s) or guardian(s) who can provide permission to participate on their behalf (for ages <18 years).
Has a documented diagnosis of ALPS-FAS.
Has clinical evidence of active disease, defined as at least one enlarged lymph node and/or enlarged spleen.
Profound grade 3 or 4 cytopenias that cannot be improved with immunomodulatory treatments prior to enrolling in the clinical trial and starting the study drug. Per investigator discretion, individuals on a single agent may be included if the dose is stable for 12 weeks at screening and is not expected to confer additive toxicity.
Renal impairment, defined as serum creatinine >1.5 mg/dL (or 133 micromol/L) or estimated glomerular filtration rate <60 mL/min/1.73 m².
Liver impairment, defined as bilirubin, alanine aminotransferase, or aspartate aminotransferase greater than 2.5 times the upper limit of normal.
History of EBV-associated lymphoma.