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L-leucine improves anemia and growth in patients with transfusion-dependent Diamond Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond Blackfan Anemia Registry
- Source :
- Pediatr Blood Cancer
- Publication Year :
- 2020
-
Abstract
- Background Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, short stature, congenital anomalies, and cancer predisposition. Most cases are due to mutations in genes encoding ribosomal proteins (RP) leading to RP haploinsufficiency. Effective treatments for the anemia of DBA include chronic red cell transfusions, long-term corticosteroid therapy, or hematopoietic stem cell transplantation. In a small patient series and in animal models, there have been hematologic responses to L-leucine with amelioration of anemia. The study objectives of this clinical trial were to determine feasibility, safety, and efficacy of L-leucine in transfusion-dependent patients with DBA. Procedure Patients ≥2 years of age received L-leucine 700 mg/m2 orally three times daily for nine months to determine a hematologic response and any improvement in growth (NCT01362595). Results This multicenter, phase I/II study enrolled 55 subjects; 43 were evaluable. There were 21 males; the median age at enrollment was 10.4 years (range, 2.5-46.1 years). No significant adverse events were attributable to L-leucine. Two subjects had a complete erythroid response and five had a partial response. Nine of 25, and 11 of 25, subjects experienced a positive weight and height percentile change, respectively, at the end of therapy. Conclusions L-leucine is safe, resulted in an erythroid response in 16% of subjects with DBA, and led to an increase in weight and linear growth velocity in 36% and 44% of evaluable subjects, respectively. Further studies will be critical to understand the role of L-leucine in the management of patients with DBA.
- Subjects :
- Adult
Male
medicine.medical_specialty
Adolescent
Anemia
medicine.medical_treatment
Pilot Projects
Hematopoietic stem cell transplantation
Short stature
Gastroenterology
Article
03 medical and health sciences
Young Adult
0302 clinical medicine
Leucine
Internal medicine
medicine
Humans
Blood Transfusion
Diamond–Blackfan anemia
Adverse effect
Child
Anemia, Diamond-Blackfan
business.industry
Hematology
Middle Aged
medicine.disease
Prognosis
Combined Modality Therapy
Hematologic Response
Clinical trial
Oncology
030220 oncology & carcinogenesis
Child, Preschool
Pediatrics, Perinatology and Child Health
Erythropoiesis
Feasibility Studies
Female
medicine.symptom
business
030215 immunology
Follow-Up Studies
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Pediatr Blood Cancer
- Accession number :
- edsair.doi.dedup.....7f35da0422ca685604b2d6c0cfaafb63