araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Study of IDE196 in Patients With Solid Tumors Harboring GNAQ/11 Mutations or PRKC Fusions

Summary: This is a Phase 1/2, multi-center, open-label basket study designed to evaluate the safety and anti-tumor activity of IDE196 in patients with solid tumors harboring GNAQ or GNA11 (GNAQ/11) mutations or PRKC fusions, including metastatic uveal melanoma (MUM), cutaneous melanoma, colorectal cancer, and other solid tumors.
  Phase 1 (dose escalation) will assess safety, tolerability and pharmacokinetics of IDE196 via standard dose escalation scheme and determine the recommended Phase 2 dose. Safety and anti-tumor activity will be assessed in the Phase 2 (dose expansion) part of the study.


Eligibility: Inclusion Criteria:
  -  Patient must be ≥18 years of age
  -  Diagnosis of one of the following:
  -  MUM: Uveal melanoma with histological or cytological confirmed metastatic disease. Or
  -  Non-MUM: Advanced cutaneous melanoma, colorectal cancer, or other solid tumor that has progressed following prior standard therapies or that has no satisfactory alternative therapies and has evidence of GNAQ/11 hotspot mutation
  -  Measurable disease
  -  Eastern Cooperative Oncology Group ≤1
  -  Adequate organ function at screening
  -  Adequate contraceptive measures for non-sterilized male and female patients of childbearing potential
  Exclusion Criteria:
  -  Another malignancy
  -  Known microsatellite instable - high (MSI-H) tumors
  -  Adverse events from prior anti-cancer therapy that have not resolved
  -  Untreated or symptomatic central nervous system metastases
  -  Human immunodeficiency virus, acquired immunodeficiency syndrome related illness, hepatitis B virus, or hepatitis C virus
  -  Recent surgery or radiotherapy
  -  Females who are pregnant or breastfeeding
  -  Impaired cardiac function

Relevance to patient case: not relevant