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Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia (LeucineDBA)

Primary Purpose

Diamond Blackfan Anemia, Blackfan Diamond Syndrome, DBA

Status
Completed
Phase
Phase 1
Locations
United States
Study Type
Interventional
Intervention
leucine
Sponsored by
Northwell Health
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Diamond Blackfan Anemia focused on measuring leucine administration, red blood cell transfusion, Diamond Blackfan anemia

Eligibility Criteria

2 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

  • diagnosed with Diamond Blackfan anemia as published in British Journal of Hematology
  • transfusion dependent
  • age 2 years and older
  • adequate renal function
  • adequate liver function
  • negative B-HCG if patient is a menstruating female and documentation of adequate contraception
  • signed informed consent

Exclusion Criteria:

  • Known hypersensitivity to branched chain amino acids
  • Diagnosis of an inborn error of amino acid metabolism disorder
  • Prior hematopoietic stem cell transplantation
  • Pregnancy, or plans to become pregnant during duration of trial

Sites / Locations

  • Phoenix Children's Hospital
  • Stanford University Medical Center
  • Riley Hospital for Children
  • University of Louisville
  • Boston Children's Hospital
  • University of Michigan C.S. Mott Children's Hospital
  • University of Missouri-Columbia Women's and Children's Hospital
  • Children's Specialty Center of Nevada
  • Cohen Children's Medical Center of New York
  • Children's Hospital of Philadelphia
  • UT Southwestern Medical Center

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

Leucine

Arm Description

No alternative treatment arm

Outcomes

Primary Outcome Measures

Response to Leucine in Transfusion Dependent Patients With Diamond Blackfan Anemia
The primary outcome is the type of response observed at 9 months. Response to treatment can be one of the following: Complete response (CR): Hb > 9 gm/dL and transfusion-independence as defined in DBA Partial response (PR): Hb < 9 gm/dL and increased reticulocyte count to greater than baseline. No response (NR): no change in transfusion requirements and no significant change reticulocyte count from baseline Progression: worsening of disease as defined by the need for more frequent transfusions

Secondary Outcome Measures

Severe Adverse Events Attributable to Leucine
Adverse events occurring while participants were on Leucine

Full Information

First Posted
May 20, 2011
Last Updated
November 18, 2022
Sponsor
Northwell Health
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1. Study Identification

Unique Protocol Identification Number
NCT01362595
Brief Title
Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
Acronym
LeucineDBA
Official Title
The Use of Novel Therapies to Reconstitute Blood Cell Production and Promote Organ Performance Using Bone Marrow Failure as a Model: a Pilot, Phase I/II Study of the Amino Acid Leucine in the Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
Study Type
Interventional

2. Study Status

Record Verification Date
November 2022
Overall Recruitment Status
Completed
Study Start Date
June 2013 (Actual)
Primary Completion Date
June 30, 2018 (Actual)
Study Completion Date
November 30, 2020 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Northwell Health

4. Oversight

Data Monitoring Committee
Yes

5. Study Description

Brief Summary
This study will determine the safety and possibility of giving the amino acid, leucine, in patients with Diamond Blackfan anemia(DBA)who are on dependent on red blood cell transfusions. The leucine is expected to produce a response in patients with DBA to the point where red blood cell production is increased. Red cell transfusions can then be less frequent or possibly discontinued. The investigators will study the side effects, if any, of giving leucine to DBA patients. Leucine levels of leucine will be obtained at baseline and during the study. The drug leucine will be provided in capsule form and taken 3 times a day for a total of 9 months.
Detailed Description
Leucine will be provided to participants in the form of a capsule and will be taken three times daily. Blood hemoglobin levels will be monitored every 3-4 weeks for 9 months. The entire study will last 12-15 months in length. Subjects must be two years of age or older and on transfusion for more than six months prior to enrollment.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Diamond Blackfan Anemia, Blackfan Diamond Syndrome, DBA, Congenital Hypoplastic Anemia, Pure Red Cell Aplasia
Keywords
leucine administration, red blood cell transfusion, Diamond Blackfan anemia

7. Study Design

Primary Purpose
Treatment
Study Phase
Phase 1, Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
55 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Leucine
Arm Type
Other
Arm Description
No alternative treatment arm
Intervention Type
Drug
Intervention Name(s)
leucine
Other Intervention Name(s)
L-leucine
Intervention Description
Dosage of leucine will be dependent on body surface area (BSA): leucine 700 mg/m2/dose by mouth three times a day
Primary Outcome Measure Information:
Title
Response to Leucine in Transfusion Dependent Patients With Diamond Blackfan Anemia
Description
The primary outcome is the type of response observed at 9 months. Response to treatment can be one of the following: Complete response (CR): Hb > 9 gm/dL and transfusion-independence as defined in DBA Partial response (PR): Hb < 9 gm/dL and increased reticulocyte count to greater than baseline. No response (NR): no change in transfusion requirements and no significant change reticulocyte count from baseline Progression: worsening of disease as defined by the need for more frequent transfusions
Time Frame
9 Months
Secondary Outcome Measure Information:
Title
Severe Adverse Events Attributable to Leucine
Description
Adverse events occurring while participants were on Leucine
Time Frame
9 months

10. Eligibility

Sex
All
Minimum Age & Unit of Time
2 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: diagnosed with Diamond Blackfan anemia as published in British Journal of Hematology transfusion dependent age 2 years and older adequate renal function adequate liver function negative B-HCG if patient is a menstruating female and documentation of adequate contraception signed informed consent Exclusion Criteria: Known hypersensitivity to branched chain amino acids Diagnosis of an inborn error of amino acid metabolism disorder Prior hematopoietic stem cell transplantation Pregnancy, or plans to become pregnant during duration of trial
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Adrianna Vlachos, MD
Organizational Affiliation
Feinstein Institutes for Medical Research; Cohen Children's Medical Center
Official's Role
Principal Investigator
Facility Information:
Facility Name
Phoenix Children's Hospital
City
Phoenix
State/Province
Arizona
ZIP/Postal Code
85016
Country
United States
Facility Name
Stanford University Medical Center
City
Palo Alto
State/Province
California
ZIP/Postal Code
94304
Country
United States
Facility Name
Riley Hospital for Children
City
Indianapolis
State/Province
Indiana
ZIP/Postal Code
46202
Country
United States
Facility Name
University of Louisville
City
Louisville
State/Province
Kentucky
ZIP/Postal Code
40202
Country
United States
Facility Name
Boston Children's Hospital
City
Boston
State/Province
Massachusetts
ZIP/Postal Code
02115
Country
United States
Facility Name
University of Michigan C.S. Mott Children's Hospital
City
Ann Arbor
State/Province
Michigan
ZIP/Postal Code
48109
Country
United States
Facility Name
University of Missouri-Columbia Women's and Children's Hospital
City
Columbia
State/Province
Missouri
ZIP/Postal Code
65201
Country
United States
Facility Name
Children's Specialty Center of Nevada
City
Las Vegas
State/Province
Nevada
ZIP/Postal Code
89109
Country
United States
Facility Name
Cohen Children's Medical Center of New York
City
New Hyde Park
State/Province
New York
ZIP/Postal Code
11040
Country
United States
Facility Name
Children's Hospital of Philadelphia
City
Philadelphia
State/Province
Pennsylvania
ZIP/Postal Code
19104
Country
United States
Facility Name
UT Southwestern Medical Center
City
Dallas
State/Province
Texas
ZIP/Postal Code
75390
Country
United States

12. IPD Sharing Statement

Plan to Share IPD
No
Citations:
PubMed Identifier
9988267
Citation
Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999 Feb;21(2):169-75. doi: 10.1038/5951.
Results Reference
background
PubMed Identifier
17186470
Citation
Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2006 Dec;79(6):1110-8. doi: 10.1086/510020. Epub 2006 Nov 2.
Results Reference
background
PubMed Identifier
17647292
Citation
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum Mutat. 2007 Dec;28(12):1178-82. doi: 10.1002/humu.20608.
Results Reference
background
PubMed Identifier
18535205
Citation
Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC Jr, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, Vlachos A, Atsidaftos E, Ellis SR, Lipton JM, Gazda HT, Arceci RJ. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008 Sep 1;112(5):1582-92. doi: 10.1182/blood-2008-02-140012. Epub 2008 Jun 5.
Results Reference
background
PubMed Identifier
19061985
Citation
Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.
Results Reference
background
PubMed Identifier
11563775
Citation
Vlachos A, Klein GW, Lipton JM. The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. J Pediatr Hematol Oncol. 2001 Aug-Sep;23(6):377-82. doi: 10.1097/00043426-200108000-00015.
Results Reference
background
PubMed Identifier
11313667
Citation
Vlachos A, Federman N, Reyes-Haley C, Abramson J, Lipton JM. Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Bone Marrow Transplant. 2001 Feb;27(4):381-6. doi: 10.1038/sj.bmt.1702784.
Results Reference
background
PubMed Identifier
16317735
Citation
Lipton JM, Atsidaftos E, Zyskind I, Vlachos A. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer. 2006 May 1;46(5):558-64. doi: 10.1002/pbc.20642.
Results Reference
background
PubMed Identifier
7949199
Citation
Ozsoylu S. Oral megadose methylprednisolone for Diamond-Blackfan anemia. Blood. 1994 Nov 1;84(9):3245-7. No abstract available.
Results Reference
background
PubMed Identifier
7562296
Citation
Bernini JC, Carrillo JM, Buchanan GR. High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone. J Pediatr. 1995 Oct;127(4):654-9. doi: 10.1016/s0022-3476(95)70134-6.
Results Reference
background
PubMed Identifier
11563769
Citation
Buchanan GR; International Diamond-Blackfan Anemia Study Group. Oral megadose methylprednisolone therapy for refractory Diamond-Blackfan anemia. International Diamond-Blackfan Anemia Study Group. J Pediatr Hematol Oncol. 2001 Aug-Sep;23(6):353-6. doi: 10.1097/00043426-200108000-00006.
Results Reference
background
PubMed Identifier
6147711
Citation
Totterman TH, Nisell J, Killander A, Gahrton G, Lonnqvist B. Successful treatment of pure red-cell aplasia with cyclosporin. Lancet. 1984 Sep 22;2(8404):693. doi: 10.1016/s0140-6736(84)91245-5. No abstract available.
Results Reference
background
PubMed Identifier
3125756
Citation
Williams DL, Mageed AS, Findley H, Ragab AH. Cyclosporine in the treatment of red cell aplasia. Am J Pediatr Hematol Oncol. 1987 Winter;9(4):314-6. doi: 10.1097/00043426-198724000-00007.
Results Reference
background
PubMed Identifier
3389144
Citation
Seip M, Zanussi GF. Cyclosporine in steroid-resistant Diamond-Blackfan anaemia. Acta Paediatr Scand. 1988 May;77(3):464-6. doi: 10.1111/j.1651-2227.1988.tb10682.x.
Results Reference
background
PubMed Identifier
2503027
Citation
Leonard EM, Raefsky E, Griffith P, Kimball J, Nienhuis AW, Young NS. Cyclosporine therapy of aplastic anaemia, congenital and acquired red cell aplasia. Br J Haematol. 1989 Jun;72(2):278-84. doi: 10.1111/j.1365-2141.1989.tb07695.x.
Results Reference
background
PubMed Identifier
1546717
Citation
Splain J, Berman BW. Cyclosporin A treatment for Diamond-Blackfan anemia. Am J Hematol. 1992 Mar;39(3):208-11. doi: 10.1002/ajh.2830390310.
Results Reference
background
PubMed Identifier
8493997
Citation
Monteserin MC, Garcia Vela JA, Ona F, Lastra AM. Cyclosporin A for Diamond-Blackfan anemia: a new case. Am J Hematol. 1993 Apr;42(4):406-7. doi: 10.1002/ajh.2830420419. No abstract available.
Results Reference
background
PubMed Identifier
10779036
Citation
Alessandri AJ, Rogers PC, Wadsworth LD, Davis JH. Diamond-blackfan anemia and cyclosporine therapy revisited. J Pediatr Hematol Oncol. 2000 Mar-Apr;22(2):176-9. doi: 10.1097/00043426-200003000-00020.
Results Reference
background
PubMed Identifier
14608205
Citation
Bobey NA, Carcao M, Dror Y, Freedman MH, Dahl N, Woodman RC. Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia. J Pediatr Hematol Oncol. 2003 Nov;25(11):914-8. doi: 10.1097/00043426-200311000-00018.
Results Reference
background
PubMed Identifier
3929597
Citation
Harris SI, Weinberg JB. Treatment of red cell aplasia with antithymocyte globulin: repeated inductions of complete remissions in two patients. Am J Hematol. 1985 Oct;20(2):183-6. doi: 10.1002/ajh.2830200212.
Results Reference
background
PubMed Identifier
8535322
Citation
Roychowdhury DF, Linker CA. Pure red cell aplasia complicating an ABO-compatible allogeneic bone marrow transplantation, treated successfully with antithymocyte globulin. Bone Marrow Transplant. 1995 Sep;16(3):471-2.
Results Reference
background
PubMed Identifier
3098093
Citation
Abkowitz JL, Powell JS, Nakamura JM, Kadin ME, Adamson JW. Pure red cell aplasia: response to therapy with anti-thymocyte globulin. Am J Hematol. 1986 Dec;23(4):363-71. doi: 10.1002/ajh.2830230408.
Results Reference
background
PubMed Identifier
3116428
Citation
McGuire WA, Yang HH, Bruno E, Brandt J, Briddell R, Coates TD, Hoffman R. Treatment of antibody-mediated pure red-cell aplasia with high-dose intravenous gamma globulin. N Engl J Med. 1987 Oct 15;317(16):1004-8. doi: 10.1056/NEJM198710153171606. No abstract available.
Results Reference
background
PubMed Identifier
8491420
Citation
Bejaoui M, Fitouri Z, Sfar MT, Lakhoua R. Failure of immunosuppressive therapy and high-dose intravenous immunoglobulins in four transfusion-dependent, steroid-unresponsive Blackfan-Diamond anemia patients. Haematologica. 1993 Jan-Feb;78(1):38-9.
Results Reference
background
PubMed Identifier
1621524
Citation
Sumimoto S, Kawai M, Kasajima Y, Hamamoto T. Intravenous gamma-globulin therapy in Diamond-Blackfan anemia. Acta Paediatr Jpn. 1992 Apr;34(2):179-80. doi: 10.1111/j.1442-200x.1992.tb00947.x.
Results Reference
background
PubMed Identifier
2226550
Citation
Miceli Sopo S, Pesaresi MA, Pastore M, Stabile A. Intravenous immunoglobulin in Diamond-Blackfan anaemia. Eur J Pediatr. 1990 Aug;149(11):779-80. doi: 10.1007/BF01957279.
Results Reference
background
PubMed Identifier
2649168
Citation
Halperin DS, Estrov Z, Freedman MH. Diamond-Blackfan anemia: promotion of marrow erythropoiesis in vitro by recombinant interleukin-3. Blood. 1989 Apr;73(5):1168-74.
Results Reference
background
PubMed Identifier
1958491
Citation
Dunbar CE, Smith DA, Kimball J, Garrison L, Nienhuis AW, Young NS. Treatment of Diamond-Blackfan anaemia with haematopoietic growth factors, granulocyte-macrophage colony stimulating factor and interleukin 3: sustained remissions following IL-3. Br J Haematol. 1991 Oct;79(2):316-21. doi: 10.1111/j.1365-2141.1991.tb04540.x.
Results Reference
background
PubMed Identifier
8338944
Citation
Gillio AP, Faulkner LB, Alter BP, Reilly L, Klafter R, Heller G, Young DC, Lipton JM, Moore MA, O'Reilly RJ. Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3. Blood. 1993 Aug 1;82(3):744-51.
Results Reference
background
PubMed Identifier
7691318
Citation
Gillio AP, Faulkner LB, Alter BP, Reilly L, Klafter R, Heller G, Young DC, Lipton JM, Moore MA, O'Reilly RJ. Successful treatment of Diamond-Blackfan anemia with interleukin 3. Stem Cells. 1993 Jul;11 Suppl 2:123-30. doi: 10.1002/stem.5530110820.
Results Reference
background
PubMed Identifier
8286756
Citation
Bastion Y, Bordigoni P, Debre M, Girault D, Leblanc T, Tchernia G, Ball S, McGuckin C, Gordon-Smith EC, Bekassy A, et al. Sustained response after recombinant interleukin-3 in diamond blackfan anemia. Blood. 1994 Jan 15;83(2):617-8. No abstract available.
Results Reference
background
PubMed Identifier
8167334
Citation
Olivieri NF, Feig SA, Valentino L, Berriman AM, Shore R, Freedman MH. Failure of recombinant human interleukin-3 therapy to induce erythropoiesis in patients with refractory Diamond-Blackfan anemia. Blood. 1994 May 1;83(9):2444-50.
Results Reference
background
PubMed Identifier
8547067
Citation
Ball SE, Tchernia G, Wranne L, Bastion Y, Bekassy NA, Bordigoni P, Debre M, Elinder G, Kamps WA, Lanning M, et al. Is there a role for interleukin-3 in Diamond-Blackfan anaemia? Results of a European multicentre study. Br J Haematol. 1995 Oct;91(2):313-8. doi: 10.1111/j.1365-2141.1995.tb05295.x.
Results Reference
background
PubMed Identifier
12351372
Citation
Abkowitz JL, Schaison G, Boulad F, Brown DL, Buchanan GR, Johnson CA, Murray JC, Sabo KM. Response of Diamond-Blackfan anemia to metoclopramide: evidence for a role for prolactin in erythropoiesis. Blood. 2002 Oct 15;100(8):2687-91. doi: 10.1182/blood.V100.8.2687.
Results Reference
background
PubMed Identifier
15795909
Citation
Akiyama M, Yanagisawa T, Yuza Y, Yokoi K, Ariga M, Fujisawa K, Hoshi Y, Eto Y. Successful treatment of Diamond-Blackfan anemia with metoclopramide. Am J Hematol. 2005 Apr;78(4):295-8. doi: 10.1002/ajh.20278.
Results Reference
background
PubMed Identifier
17312003
Citation
Leblanc TM, Da Costa L, Marie I, Demolis P, Tchernia G. Metoclopramide treatment in DBA patients: no complete response in a French prospective study. Blood. 2007 Mar 1;109(5):2266-7. doi: 10.1182/blood-2006-08-039545. No abstract available.
Results Reference
background
PubMed Identifier
16365109
Citation
Cynober L, Harris RA. Symposium on branched-chain amino acids: conference summary. J Nutr. 2006 Jan;136(1 Suppl):333S-6S. doi: 10.1093/jn/136.1.333S. No abstract available.
Results Reference
background
PubMed Identifier
16365105
Citation
Choudry HA, Pan M, Karinch AM, Souba WW. Branched-chain amino acid-enriched nutritional support in surgical and cancer patients. J Nutr. 2006 Jan;136(1 Suppl):314S-8S. doi: 10.1093/jn/136.1.314S.
Results Reference
background
PubMed Identifier
17562599
Citation
Pospisilova D, Cmejlova J, Hak J, Adam T, Cmejla R. Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine. Haematologica. 2007 May;92(5):e66-7. doi: 10.3324/haematol.11498. No abstract available.
Results Reference
background
PubMed Identifier
16365087
Citation
Kimball SR, Jefferson LS. Signaling pathways and molecular mechanisms through which branched-chain amino acids mediate translational control of protein synthesis. J Nutr. 2006 Jan;136(1 Suppl):227S-31S. doi: 10.1093/jn/136.1.227S.
Results Reference
background
PubMed Identifier
15173431
Citation
Pencharz PB, Ball RO. Amino acid needs for early growth and development. J Nutr. 2004 Jun;134(6 Suppl):1566S-1568S. doi: 10.1093/jn/134.6.1566S.
Results Reference
background
PubMed Identifier
6138050
Citation
Bernardini P, Fischer JE. Amino acid imbalance and hepatic encephalopathy. Annu Rev Nutr. 1982;2:419-54. doi: 10.1146/annurev.nu.02.070182.002223. No abstract available.
Results Reference
background
PubMed Identifier
15043519
Citation
Poon RT, Yu WC, Fan ST, Wong J. Long-term oral branched chain amino acids in patients undergoing chemoembolization for hepatocellular carcinoma: a randomized trial. Aliment Pharmacol Ther. 2004 Apr 1;19(7):779-88. doi: 10.1111/j.1365-2036.2004.01920.x.
Results Reference
background
PubMed Identifier
2896868
Citation
Plaitakis A, Smith J, Mandeli J, Yahr MD. Pilot trial of branched-chain aminoacids in amyotrophic lateral sclerosis. Lancet. 1988 May 7;1(8593):1015-8. doi: 10.1016/s0140-6736(88)91841-7.
Results Reference
background
PubMed Identifier
11044838
Citation
Pass KA, Lane PA, Fernhoff PM, Hinton CF, Panny SR, Parks JS, Pelias MZ, Rhead WJ, Ross SI, Wethers DL, Elsas LJ 2nd. US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN). J Pediatr. 2000 Oct;137(4 Suppl):S1-46. doi: 10.1067/mpd.2000.109437. No abstract available.
Results Reference
background
PubMed Identifier
18671700
Citation
Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008 Sep;142(6):859-76. doi: 10.1111/j.1365-2141.2008.07269.x. Epub 2008 Jul 30.
Results Reference
background
PubMed Identifier
17082006
Citation
Cmejlova J, Dolezalova L, Pospisilova D, Petrtylova K, Petrak J, Cmejla R. Translational efficiency in patients with Diamond-Blackfan anemia. Haematologica. 2006 Nov;91(11):1456-64.
Results Reference
background
PubMed Identifier
15930469
Citation
Hutson SM, Sweatt AJ, Lanoue KF. Branched-chain [corrected] amino acid metabolism: implications for establishing safe intakes. J Nutr. 2005 Jun;135(6 Suppl):1557S-64S. doi: 10.1093/jn/135.6.1557S. Erratum In: J Nutr. 2005 Aug;135(8):2009.
Results Reference
background
Citation
Lab Advisor(TM); Leucine Measurements in Micromedex (R) Healthcare Series. 2010Thomson Reuters
Results Reference
background
Citation
Jellin JM, Gregory P, Batz F. Pharmacist's letter/ Prescriber's Letter Natural Medicines Comprehensive Database, 3rd ed, Therapeutic Research Faculty, Stockton, CA, 2000.
Results Reference
background
Citation
Braverman ER. The Healing Nutrients Within. New Canaan, CT: Keats Publishing, Inc. 1997; 339
Results Reference
background
Citation
Gilman AG, Rall JW, Nies AD et al (eds): Goodman and Gilman's The Pharmacological Basis of Therapeutics, 8th ed. Pergamon Press, New York, NY, 1990.
Results Reference
background
Citation
AMA Department of Drugs; AMA Drug Evaluations, 6th ed. American Medical Association, Chicago, IL,1986.
Results Reference
background
Citation
Tietz NE (Ed); Clinical Guide to Laboratory Tests, 3rd ed W. B. Saunders, Philadelphia, PA, 1995.
Results Reference
background
Citation
Henry JB: Clinical Diagnosis and Management by Laboratory Methods, 20th ed. Saunders 2001.
Results Reference
background
PubMed Identifier
3080979
Citation
Sax HC, Talamini MA, Fischer JE. Clinical use of branched-chain amino acids in liver disease, sepsis, trauma, and burns. Arch Surg. 1986 Mar;121(3):358-66. doi: 10.1001/archsurg.1986.01400030120019.
Results Reference
background
PubMed Identifier
33025707
Citation
Vlachos A, Atsidaftos E, Lababidi ML, Muir E, Rogers ZR, Alhushki W, Bernstein J, Glader B, Gruner B, Hartung H, Knoll C, Loew T, Nalepa G, Narla A, Panigrahi AR, Sieff CA, Walkovich K, Farrar JE, Lipton JM. 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. Pediatr Blood Cancer. 2020 Dec;67(12):e28748. doi: 10.1002/pbc.28748. Epub 2020 Oct 6.
Results Reference
derived
Links:
URL
http://www.dbar.org
Description
Diamond Blackfan Anemia Registry - a registry for patients with DBA in North America
URL
http://www.dmaf.org
Description
Daniella Maria Arturi Foundation is a family sponsored group which facilitates research for DBA.
URL
http://www.dbafoundation.org
Description
The DBA foundation is a family sponsored organization who raise funds for research and provides emotional support to families.

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Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia

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