sickle cell anemia, sikkelcelziekte, sikkelcelanemie, sikkel cel, thalassemia, thalassemie, unstable Hb, instabiel hb, haemoglobinopathies, haemoglobinopathie
Conditions
Interventions
Sponsors
Charles Kung, associate director Agios Pharmaceuticals
Eligibility
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following criteria: - Adult patients (18 years or older) with a diagnosis as listed above - Participant is willing and able to give informed consent
Exclusion criteria
Exclusion criteria: Exclusion criteria: - Inability to give informed consent. - Need for regular red blood cell transfusions (more than 8 transfusions a year) - Recent transfusion, defined as within 2 months prior to enrolment). The last two criteria do not lead to exclusion for patients with Unstable Hb, because of the extreme rarity of the diagnosis.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main objective: -To investigate pyruvate kinase thermal stability in haemoglobinopathies. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary objectives: - To investigate the possibility of stimulation of PK activity and thermal stability in haemoglobinopathies by use of allosteric activators - To investigate oxidative stress as a cause of decreased pyruvate kinase thermal stability in haemoglobinopathies - To investigate the role of PK thermal stability related to clinical symptoms and disease severity | — |
Contacts
Public ContactHAS van Straaten
UMC Utrecht
Outcome results
None listed