Agios 2024 Thalassaemia Monitoring Guide PDF

MONITOR ADULT NON–TRANSFUSION–DEPENDENT PATIENTS WITH α- OR β-THALASSEMIA FROM THE TIME OF DIAGNOSIS This assessment schedule is based on recommendations from leading physicians* and information from the Thalassaemia International Federation Guidelines for the Management of ɑ-Thalassaemia and Non–Tr...

MONITOR ADULT NON–TRANSFUSION–DEPENDENT PATIENTS WITH α- OR β-THALASSEMIA FROM THE TIME OF DIAGNOSIS This assessment schedule is based on recommendations from leading physicians* and information from the Thalassaemia International Federation Guidelines for the Management of ɑ-Thalassaemia and Non–Transfusion-Dependent β-Thalassaemia. Monitoring recommendations represent core health evaluations that allow healthcare providers to track disease progression over time in adult patients. The patient’s physician will determine the actual frequency of necessary consultations and assessments based on disease course, clinical severity, and individual needs for medical care and routine follow-up. *Members of the Agios steering committee were compensated for their time. RECOMMENDED SCHEDULE OF ROUTINE ASSESSMENTS AT EVERY VISIT (Q3 MONTHS) Medical history, including quality of life (which can be assessed as a change from previous visit) Physical exam Laboratory tests Complete blood count† Serum ferritin Liver and kidney function test (CMP)‡ RECOMMENDED SCHEDULE OF MONITORING FOR LISTED COMPLICATIONS Baseline Q6 Months Q12 Months Q24 Months Extramedullary hematopoiesis MRI C/T/L spine with contrast As clinically indicated based on degree of anemia or symptoms Splenomegaly (physical exam/ultrasound) Iron overload Liver MRI for LIC§ || Cardiac T2* MRI¶ Cardiac function ECHO, including TRV Holter or equivalent As clinically indicated Osteoporosis and bone disease DEXA scan # 25-hydroxyvitamin D Endocrinopathy (Collect a baseline assessment for every patient. Perform exams annually if there is evidence of iron overload.)** Hypogonadism FSH, LH, testosterone, and estrogen Hypothyroidism Free thyroxine (FT4) and TSH Hypoparathyroidism PTH, calcium, phosphate, magnesium Diabetes mellitus Fasting glucose or oral glucose tolerance test † Perform every 2 weeks if patient is on deferiprone. ¶ Perform cardiac MRI if LIC is ≥10 mg/g dry weight. ‡ Perform every month if patient is on chelation therapy. # Perform every 24 months or every 12 months with abnormality. § Perform a baseline liver MRI in patients with frequent transfusions or **Exams may be referred out to an endocrinologist or performed independently. serum ferritin ≥300 ng/mL. || Perform assessments every 12 months for patients on chelation therapy and every 24 months for patients who are not receiving iron chelation therapy. C/T/L=cervical/thoracic/lumbar; CMP=comprehensive metabolic panel; DEXA=dual-energy X-ray absorptiometry; ECHO=echocardiogram; FSH=follicle-stimulating hormone; LH=luteinizing hormone; LIC=liver iron concentration; MRI=magnetic resonance imaging; PTH=parathyroid hormone; TRV=tricuspid regurgitant jet velocity; TSH=thyroid- stimulating hormone.  CONDITIONAL INTERVENTIONS BASED ON FINDINGS Refer to a cardiologist Refer to an endocrinologist Refer females to a reproductive or bone health specialist endocrinologist When ECHO or MRI indicates: When monitoring indicates: To assess for fertility and need for Low ejection fraction Abnormal assessments reproductive assistance. (see previous page) Evidence of diastolic dysfunction Elevated TRV (ie, possible pulmonary hypertension) When monitoring indicates arrhythmias/ abnormal Holter test results. CONSIDER ADDITIONAL POTENTIAL COMPLICATIONS AS CLINICALLY INDICATED Complication and/or condition Suggested interventions Counsel the patient on the risk of worsening anemia, which can commonly develop from infections resulting in fever. Hemolytic crisis Hemolytic crisis presents with symptoms of worsening fatigue and signs of jaundice and/ or dark-colored urine and requires emergency management. Counsel patient on the risk of infections and course of action during emergency-related febrile events. Refer to the latest CDC guidelines Splenectomized individuals and follow vaccination recommendations. Thrombocytosis following splenectomy may also contribute to thrombosis and vascular events. Counsel patient on classical symptoms of DVT (swelling, pain, warmth and Thrombosis and vascular events tenderness to touch, and redness in the involved leg) and PE (dyspnea followed by chest pain, and cough). Counsel patient on risk and consider obtaining a baseline AFP, ultrasound, Liver fibrosis, cirrhosis, and HCC and FibroScan in patients with chronic, severe iron overload or hepatitis. Counsel patient on right upper quadrant or epigastric pain, nausea, Choledocholithiasis vomiting, and worsening jaundice. Perform laboratory tests for liver function and imaging (ultrasound) with clinical suspicion. Annual screening (serology and, if positive, PCR) in patients who have HCV, HBV, and HIV received blood transfusions in the previous 12 months. Leg ulcers Perform skin inspection at every visit. RECOMMENDED SCHEDULE OF ROUTINE ASSESSMENTS AT EVERY VISIT Physical well-being Feeling fatigue and/or tiredness Feeling weak or washed out Lack of energy Functional well-being Ability to work Ability to do usual activities Ability to tolerate exercise (eg, walking up stairs) Emotional well-being Depression Anxiety and/or stress Additional Resources for Consideration: AFP=alpha-fetoprotein; DVT=deep vein thrombosis; ECHO=echocardiogram; HBV=hepatitis B; HCC=hepatocellular carcinoma; HCV=hepatitis C; HIV=human immunodeficiency virus; MRI=magnetic resonance imaging; PCR=polymerase chain reaction; PE=pulmonary embolism; TRV=tricuspid regurgitant jet velocity. Agios Pharmaceuticals, Inc. © 2024 All rights reserved. THA-US-0064