Voxelotor (formerly GBT440, Global Blood Therapeutics, Inc.) is being developed as an oral, once-daily therapy for sickle cell disease (SCD). Drawing on the clinical benefits previously seen in adult patients with SCD and in recognition of the critical need for new SCD treatments, voxelotor has received European Medicines Agency (EMA) Priority Medicines (PRIME) designation for the treatment of SCD. Voxelotor is a haemoglobin oxygen-affinity modulator designed to prevent haemoglobin polymerization, the main cause of SCD pathophysiology, with potential to modify the course of SCD early on as to alleviate the symptom burden, prolong life expectancy and improve patient’s quality of life. Promising and reassuring preliminary results from the HOPE-KIDS 1 Study (GBT440-007) [ClinicalTrials.gov Identifier: NCT02850406] were presented by Carolyn C. Hoppe, MD, at the 2017 ASH Annual Meeting. The study evaluates the safety, tolerability, pharmacokinetics and exploratory treatment effect of voxelotor in a pediatric population (6 to 17 years) with SCD.

Results are reported for 12 patients (ages 12-17 years) in the 900 mg cohort, who were treated for 16 weeks, as follows:

- Increased haemoglobin levels and improved clinical measures of hemolysis. Six of eleven patients achieved a hemoglobin response of > 1 g/dl increase.

- Reduced daily symptoms at 16 weeks as assessed by total symptom scores (TSS), which improved in 10 of 12 patients, despite low symptom burden scores at baseline.

- Favourable tolerability profile. No drug-related serious adverse events or drug-related discontinuations due to adverse events.

Global Blood Therapeutics, Inc. has initiated a phase III clinical study of GBT440 in patients (12 to 65 years) with SCD [ClinicalTrials.gov Identifier: NCT03036813].

More information:ASH 2017 abstract,GBT Announcement, Pharmacy and Therapeutics Journal

The Rare Anaemia Disorders European Epidemiological Platform (RADeep) is an integrated platform connecting databases and patient registries for rare hematological conditions across Europe. It was conceived and put under development by EuroBloodNet, the European Reference Network (ERN) on Rare Hematological Diseases, to foster European cooperation for epidemiological surveillance, improve access to specialized and adequate health care, and facilitate research and development of new treatments, thus increasing the knowledge and promoting best practices for these rare diseases at the EU level.

RADeep is being implemented in different phases through disease-specific arms. For each disease-specific arm, a scientific committee will be established including experts on the prevention, diagnosis and clinical care of the disease, researchers, and national coordinators for data gathering.

The disease-specific arms of RADeep include:

1. PKDeep (1^st phase of implementation on pyruvate kinase deficiency),
2. Sickle cell disease,
3. Thalassaemia,
4. Congenitaldyserythropoieticanaemias (CDA),
5. Hereditary erythropoietic failure or aplasia: Diamond Blackfan anaemia (DBA) and Fanconi Anaemia (FA),
6. Membrane disorders and other enzymopathies,
7. Hereditary sideroblastic anaemias, and
8. Hereditary non-sideroblastic anaemias due to iron defects.

More information: RADeep Official Site

28 February 2018 marks the 11^th edition of Rare Disease Day, coordinated by EURORDIS, aiming to raise awareness about rare diseases and their impact on patients' lives. This year’s theme is research, recognizing patient and public involvement in rare disease research progress. Cures and treatments exist for a few conditions but are distant hope for most. This year’s Rare Anaemia Day is celebrated to promote an increased and more effective patient involvement in rare disease research. On and around this day, rare disease patient communities from countries and regions all over the world will hold awareness-raising activities based on the slogan Show your rare, Show you care, encouraging everyone’s participation by posting an image or selfie on any social media channel of their faces painted in the Rare Disease Day logo colours and including the hashtags #ShowYourRare, #MyRare or #RareDiseaseDay. 

More information: Rare Disease Day 2018; The 2018 Rare Disease Day Video

La Jolla Pharmaceutical Company has initiated a phase II clinical study of LJPC-401 in patients with transfusion-dependent beta thalassaemia [ClinicalTrials.gov Identifier: NCT03381833]. LJPC-401 is La Jolla’s proprietary formulation of synthetic human hepcidin, the body’s naturally occurring regulator of iron absorption and distribution. In healthy individuals, hepcidin prevents excessive iron accumulation in the heart and other vital organs, where it can cause potentially fatal complications. La Jolla is developing LJPC-401 for the potential treatment of iron overload, with promising results reported in preclinical and phase I clinical studies. The phase II clinical study is a multinational, multicentre, randomized, controlled study designed to involve 100 patients from 40 sites across 9 countries. The primary outcome measure in this study is the effect of LJPC-401 on myocardial iron overload in patients receiving chelation therapy. Secondary outcome measures include the effect of LJPC-401 on blood iron levels, on hematology laboratory parameters, and on iron laboratory parameters.

The first clinical trial site for the phase II study of LJPC-401 has now opened in San Diego, CA. Additional trial sites will open in the U.S. in the near future.

Eligibility criteria include:

1. 18 years of age or older with transfusion-dependent beta thalassemia.
2. Increased iron blood levels as measured by transferrin saturation (TSAT).
3. Increased iron levels in the heart as measured by MRI.
4. Received iron chelation therapy for a minimum of 1 year and be on a stable dose prior to enrollment in the study.

More information: La Jolla announcement, CAF News, LJPC , Clinical trial