A Phase 2a Study of the ITK Inhibitor Soquelitinib to Reduce Lymphoproliferation and Improve Cytopenias in Autoimmune Lymphoproliferative Syndrome (ALPS)-FAS Patients
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.
⁃ To be eligible to participate in this study, an individual must meet all the following criteria:
• 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.
• If currently on corticosteroid therapy, then dose is less than 20 mg/day (prednisone equivalent) and has been stable for at least 4 weeks.
• For participants to be seen at the NIH CC, co-enrolled on NIH protocol 93-I-0063.
• Participants who can become pregnant or who can impregnate their partner must agree to either remain sexually abstinent or use two highly effective methods of contraception when engaging in sexual activities that can result in pregnancy, beginning 28 days before baseline until 3 months after the last dose. One method must be a barrier (eg, internal or external condom, cervical cap, or diaphragm). The second method may be any of the following:
⁃ 7a. Oral contraceptive pill or hormonal patch or ring.
⁃ 7b. Parenteral hormonal contraceptive implant.
⁃ 7c. Intrauterine device.