Blood Draw for Myeloproliferative Disorder

Overseen By Hanny Al-Samkari, MD

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Massachusetts General Hospital

Disqualifiers: Red cell transfusion, Nutritional anemia, Hereditary anemia, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 1

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to explore acquired pyruvate kinase deficiency, a potential blood enzyme issue, in individuals with certain bone marrow disorders. Disorders such as myelodysplastic syndrome (MDS) can cause anemia (low red blood cell count), which the study will investigate through a simple blood test. Ideal candidates for this trial include those with diagnosed bone marrow disorders who experience unexplained anemia not caused by nutritional deficiencies or other known factors. As a Phase 2 trial, this research measures the treatment's effectiveness in an initial, smaller group, offering participants a chance to contribute to important medical advancements.

Do I need to stop my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the study team or your doctor.

What prior data suggests that this blood draw is safe for participants?

Research has shown that acquired pyruvate kinase deficiency can cause hemolytic anemia, leading to premature breakdown of red blood cells. Previous studies on treatments like mitapivat have shown promise in managing symptoms. Mitapivat has sometimes reduced the need for blood transfusions in patients with this condition.

While these results are encouraging, treatments are still under study to fully understand their safety. The use of mitapivat in patients suggests it might be well-tolerated, but more research is needed for clear conclusions. Prospective trial participants should discuss potential risks and benefits with their healthcare provider. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about investigating Acquired Pyruvate Kinase Deficiency in clonal myeloid neoplasms because it addresses anemia caused by non-immune hemolytic processes, a unique angle compared to standard treatments like blood transfusions and erythropoiesis-stimulating agents. Unlike these common therapies, which primarily focus on increasing red blood cell count or enhancing their production, this approach targets the underlying metabolic dysfunction in red blood cells. By understanding and correcting the pyruvate kinase deficiency, this method could potentially improve anemia more effectively and with fewer side effects. This represents a promising shift from merely treating symptoms to addressing a root cause of the condition.

What evidence suggests that this trial's methods could be effective for assessing acquired pyruvate kinase deficiency?

Research shows that acquired pyruvate kinase deficiency affects how red blood cells produce energy, leading to anemia, a condition characterized by insufficient healthy red blood cells. This deficiency often occurs in individuals with certain blood cancers. One study showed that mitapivat treatment reduced the need for blood transfusions in a patient with this deficiency. These findings suggest that mitapivat could effectively manage symptoms of this condition. Although more research is necessary, these early results support mitapivat's potential for treating acquired pyruvate kinase deficiency.

Note: This trial involves a single blood draw for participants with clonal myeloid disorders or anemia and does not include treatment with mitapivat. ^{1 2 5 6 7}

Who Is on the Research Team?

Hanny Al-Samkari, MD

Principal Investigator

Massachusetts General Hospital

Are You a Good Fit for This Trial?

Inclusion Criteria

Cohort 1

Capable and willing to provide informed consent for participation in the study.

Diagnosis of myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm (MDS/MPN syndrome) according to 2016 World Health Organization (WHO) classification system.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Single Blood Draw

Participants undergo a single blood draw for enzymatic and genomic assessment

1 day

1 visit (in-person)

Follow-up

Participants are monitored for safety and effectiveness after the blood draw

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• Acquired Pyruvate Kinase Deficiency
• Blood Draw

How Is the Trial Designed?

Group I: Cohort I Experimental Treatment 1 Intervention

Approximately 75 anemic (Hgb \<11.0 g/dL) MDS Participants without overt clinical evidence of hemolysis. \- Single Blood Draw

Group II: Cohort 2 Experimental Treatment 1 Intervention

25 Participants with clonal myeloid disorders of any type with evidence of non-immune, otherwise unexplained hemolytic anemia -Single Blood Draw

Who Is Running the Clinical Trial?

Massachusetts General Hospital

Lead Sponsor

Trials

3,066

Recruited

13,430,000+

Agios Pharmaceuticals, Inc.

Industry Sponsor

Trials

55

Recruited

4,200+

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT04902833?cond=%22Hemolytic%20Anemia%22&intr=%22pyruvate%22&viewType=Table&rank=8

Acquired Pyruvate Kinase Deficiency In Clonal Myeloid ... There are three types of expanded access: Individual Patients: Allows a single patient, with a serious disease or condition who cannot participate in a clinical ...

2. mpncancerconnection-org.clinicaltrialconnect.com mpncancerconnection-org.clinicaltrialconnect.com/trials/NCT04902833

Acquired Pyruvate Kinase Deficiency In Clonal Myeloid ... Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/39538432/

Mitapivat for Acquired Pyruvate Kinase Deficiency - PubMed This case report describes the novel application of mitapivat therapy in a patient with acquired PK deficiency causing red cell transfusion dependence.

4. ancora.ai ancora.ai/it/details/NCT04902833

Acquired Pyruvate Kinase Deficiency In Clonal Myeloid ... This cross-sectional prevalence assessment study involves a single blood draw in specific patient populations to assess for enzymatic and genomic evidence .

5. centerwatch.com centerwatch.com/clinical-trials/listings/NCT04902833/acquired-pyruvate-kinase-deficiency-in-clonal-myeloid-neoplasms

Acquired Pyruvate Kinase Deficiency In Clonal Myeloid ... This cross-sectional prevalence assessment study involves a single blood draw in specific patient populations to assess for enzymatic and ...

6. sciencedirect.com sciencedirect.com/science/article/pii/S2531137924003237

Hemolytic anemia due to pyruvate kinase deficiency ... Pyruvate kinase (PK) deficiency is the most frequent red cell enzyme deficiency that causes hemolysis with a prevalence of 5:100,000 in most populations.

7. rarediseases.org rarediseases.org/rare-diseases/pyruvate-kinase-deficiency/

Pyruvate Kinase Deficiency - Symptoms, Causes, Treatment Pyruvate kinase deficiency (PKD) is a rare genetic disorder characterized by the premature destruction of red blood cells, which is called hemolytic anemia.