Congenital Hypoplastic Anemia (DBCOND0052431)

Identifiers

Synonyms

Blackfan Diamond Syndrome / Diamond-Blackfan Anemia / Diamond Blackfan Anemia / Congenital hypoplastic anemia / Constitutional (pure) red blood cell aplasia / Anemia, Diamond-Blackfan / Chronic constitutional pure red cell aplasia (disorder) / Diamond-Blackfan anaemia / Anemia, Hypoplastic, Congenital / Constitutional aplastic anemia (disorder) / Constitutional aplastic anemia / Congenital aplastic anaemia / Congenital aplastic anemia / Constitutional aplastic anaemia

Associated Data

Indicated Drugs and Targets

Drug	Description	Targets
Betamethasone	A systemic corticosteroid used to relieve inflammation in various conditions, including but not limited to allergic states, dermatologic disorders, gastrointestinal diseases, and hematological disorders.	Glucocorticoid receptortarget Cytochrome P450 3A4enzyme ATP-dependent translocase ABCB1transporter Aromataseenzyme Cytochrome P450 3A5enzyme Cytochrome P450 3A7enzyme Cytochrome P450 2A6enzyme Cytochrome P450 1B1enzyme Cytochrome P450 2B6enzyme Cytochrome P450 2C8enzyme Cytochrome P450 2C9enzyme Cytochrome P450 2C19enzyme Albumincarrier Corticosteroid-binding globulincarrier
Bupivacaine	A local anesthetic used in a wide variety of superficial and invasive procedures.	Sodium channel protein type 10 subunit alphatarget Prostaglandin E2 receptor EP1 subtypetarget Cytochrome P450 3A4enzyme Cytochrome P450 2C19enzyme Cytochrome P450 2D6enzyme
Cortisone acetate	A steroid hormone used for the relief of the inflammatory and pruritic manifestations of corticosteroid-responsive dermatoses and endocrine disorders associated with inadequate production of steroid hormones.	Glucocorticoid receptortarget Cytochrome P450 3A4enzyme Cytochrome P450 3A5enzyme Annexin A1target Corticosteroid-binding globulincarrier Albumincarrier Solute carrier organic anion transporter family member 1A2transporter ATP-dependent translocase ABCB1transporter Organic anion transporter 3transporter Steroid hormone receptor ERR1target Steroid hormone receptor ERR2target Estrogen-related receptor gammatarget
Dexamethasone	A glucocorticoid available in various modes of administration that is used for the treatment of various inflammatory conditions, including bronchial asthma, as well as endocrine and rheumatic disorders.	Glucocorticoid receptortarget Annexin A1target Nitric oxide synthase, inducibletarget Nuclear receptor subfamily 0 group B member 1target Cytochrome P450 3A4enzyme Cytochrome P450 3A5enzyme Cytochrome P450 3A7enzyme Bile salt export pumptransporter ATP-dependent translocase ABCB1transporter ATP-binding cassette sub-family C member 2transporter Solute carrier organic anion transporter family member 1A2transporter Broad substrate specificity ATP-binding cassette transporter ABCG2transporter Steroid 17-alpha-hydroxylase/17,20 lyaseenzyme Cytochrome P450 1A1enzyme Cytochrome P450 2A6enzyme Cytochrome P450 2B6enzyme Cytochrome P450 2C19enzyme Cytochrome P450 2C8enzyme Cytochrome P450 2E1enzyme Cytochrome P450 3A43enzyme Cytochrome P450 4A11enzyme Nuclear receptor subfamily 1 group I member 2target Cytochrome P450 11B1, mitochondrialenzyme Albumincarrier 11-beta-hydroxysteroid dehydrogenase type 2enzyme 11-beta-hydroxysteroid dehydrogenase 1enzyme Organic anion transporter 3transporter
Hydrocortisone	A glucocorticoid used to treat corticosteroid-responsive dermatoses, endocrine disorders, immune conditions, and allergic disorders.	Annexin A1target Glucocorticoid receptortarget Sex hormone-binding globulincarrier Cytochrome P450 3A4enzyme Cytochrome P450 3A5enzyme Cytochrome P450 3A7enzyme ATP-dependent translocase ABCB1transporter Solute carrier organic anion transporter family member 1A2transporter Cytochrome P450 11B1, mitochondrialenzyme Cytochrome P450 11B2, mitochondrialenzyme Cytochrome P450 2C8enzyme Corticosteroid-binding globulincarrier Organic anion transporter 3transporter Aldo-keto reductase family 1 member D1enzyme 3-oxo-5-alpha-steroid 4-dehydrogenase 2enzyme 11-beta-hydroxysteroid dehydrogenase type 2enzyme 11-beta-hydroxysteroid dehydrogenase 1enzyme Cytochrome P450 2A6enzyme Cytochrome P450 1B1enzyme Cytochrome P450 2B6enzyme Cytochrome P450 2C9enzyme Cytochrome P450 2C19enzyme
Hydrocortisone succinate	A corticosteroid used to treat severe allergic reactions, dermatologic diseases, endocrine disorders, gastrointestinal diseases, hematological disorders, neoplastic diseases, nervous system conditions, ophthalmic diseases, renal diseases, respiratory diseases, and rheumatic disorders.	Cytochrome P450 3A4enzyme Cytochrome P450 2C8enzyme Cytochrome P450 11B1, mitochondrialenzyme Cytochrome P450 11B2, mitochondrialenzyme
Methylprednisolone	A corticosteroid used to treat inflammation or immune reactions across a variety of organ systems, endocrine conditions, and neoplastic diseases.	Glucocorticoid receptortarget Cytochrome P450 3A4enzyme ATP-dependent translocase ABCB1transporter Cytochrome P450 3A Subfamilyenzyme Cytochrome P450 2A6enzyme Cytochrome P450 1B1enzyme Cytochrome P450 2B6enzyme Cytochrome P450 2C8enzyme Cytochrome P450 2C9enzyme Cytochrome P450 2C19enzyme Annexin A1target 20-ketosteroid reductase (20-hydroxysteroid dehydrogenase)enzyme 11beta-hydroxysteroid dehydrogenaseenzyme Albumincarrier
Methylprednisolone hemisuccinate	A water soluble corticosteroid used to treat severe allergic reactions, dermatologic diseases, endocrine disorders, gastrointestinal diseases, hematological disorders, neoplastic diseases, nervous system conditions, ophthalmic diseases, renal diseases, respiratory diseases, and rheumatic disorders.	Cytochrome P450 3A4enzyme Cytochrome P450 3A5enzyme
Prednisolone	A glucocorticoid used to treat adrenocortical insufficiency, inflammatory conditions, and some cancers.	Corticosteroid-binding globulincarrier Cytochrome P450 3A4enzyme Glucocorticoid receptortarget Solute carrier organic anion transporter family member 1A2transporter ATP-dependent translocase ABCB1transporter Albumincarrier
Prednisone	A corticosteroid used to treat inflammation or immune-mediated reactions and to treat endocrine or neoplastic diseases.	Glucocorticoid receptortarget Cytochrome P450 3A4enzyme ATP-dependent translocase ABCB1transporter Solute carrier organic anion transporter family member 1A2transporter Cytochrome P450 2C19enzyme Albumincarrier Cytochrome P450 3A5enzyme Corticosteroid-binding globulincarrier Cytochrome P450 3A Subfamilyenzyme Cytochrome P450 2A6enzyme Cytochrome P450 1B1enzyme Cytochrome P450 2B6enzyme Cytochrome P450 2C8enzyme Cytochrome P450 2C9enzyme 11-beta-hydroxysteroid dehydrogenase 1enzyme
Triamcinolone	A glucocorticoid used to treat a wide variety of inflammatory conditions of organ systems and tissues.	Corticosteroid-binding globulincarrier Glucocorticoid receptortarget Cytochrome P450 3A4enzyme Prostaglandin G/H synthase 2enzyme Cholinesteraseenzyme Cytochrome P450 3A5enzyme Cytochrome P450 3A7enzyme Albumincarrier

Clinical Trials

Identifier	Title	Drug(s)	Purpose	Phase	Status
NCT01362595	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia	Leucine	treatment	1 / 2	completed
NCT00027274	Cancer in Inherited Bone Marrow Failure Syndromes	No drug interventions	Not Available	Not Available	recruiting
NCT01464164	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia	Prednisone Sotatercept	treatment	1 / 2	terminated
NCT02720679	Investigation of the Genetics of Hematologic Diseases	No drug interventions	Not Available	Not Available	recruiting
NCT02512679	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells	Cyclophosphamide	treatment	2	terminated
NCT02179359	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies	No drug interventions	treatment	Not Available	recruiting
NCT01758042	Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders	No drug interventions	treatment	Not Available	recruiting
NCT00011505	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia	Filgrastim	treatment	2	completed
NCT01319851	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation	Alefacept	treatment	Not Available	terminated
NCT00301834	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders	Alemtuzumab Busulfan Cyclosporine Fludarabine Methotrexate Methylprednisolone	treatment	2	completed
NCT01913548	Multi-Center Study of Iron Overload: Survey Study (MCSIO)	No drug interventions	Not Available	Not Available	completed
NCT03966053	The Use of Trifluoperazine in Transfusion Dependent DBA	Trifluoperazine	treatment	1 / 2	terminated
NCT03733249	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study	Rimiducid Rivogenlecleucel	treatment	1 / 2	terminated
NCT03513328	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation	Thiotepa	treatment	1 / 2	completed
NCT02386267	L-leucine in Diamond Blackfan Anemia Patients	Leucine	treatment	2	unknown_status
NCT02065869	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant	Rimiducid Rivogenlecleucel	treatment	1 / 2	terminated
NCT00235391	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload	Deferasirox	treatment	3	completed
NCT00001962	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure	Daclizumab	treatment	2	terminated
NCT01529827	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies	Fludarabine Melphalan Methotrexate Mycophenolate mofetil Tacrolimus	treatment	2	completed
NCT01114776	Multi-Center Study of Iron Overload: Pilot Study	No drug interventions	Not Available	Not Available	completed
NCT01966367	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation	No drug interventions	treatment	1 / 2	active_not_recruiting
NCT01419704	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies	No drug interventions	treatment	1 / 2	withdrawn
NCT00244010	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias	No drug interventions	treatment	Not Available	completed
NCT01586455	Human Placental-Derived Stem Cell Transplantation	No drug interventions	treatment	1	completed
NCT00305708	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission	Busulfan Fludarabine	treatment	1 / 2	completed
NCT03653338	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias	Alemtuzumab Fludarabine Hydroxyurea Rituximab Thiotepa	treatment	1 / 2	recruiting
NCT04965597	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)	Antithymocyte immunoglobulin (rabbit) Fludarabine Methopterin Methotrexate Tacrolimus Treosulfan	treatment	2	recruiting
NCT00290628	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer	Busulfan Cyclophosphamide Cyclosporine Filgrastim Melphalan Methylprednisolone Mycophenolate mofetil	treatment	Not Available	terminated
NCT00176878	Stem Cell Transplant for Bone Marrow Failure Syndromes	Busulfan Fludarabine	treatment	2 / 3	completed
NCT00176852	Stem Cell Transplant for Hemoglobinopathy	Alemtuzumab Busulfan Cyclophosphamide Filgrastim Fludarabine	treatment	2 / 3	completed
NCT04099966	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion	Benzalkonium	treatment	2	recruiting
NCT05687474	Baby Detect : Genomic Newborn Screening	No drug interventions	Not Available	Not Available	recruiting
NCT00957931	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs	Human Umbilical Cord Mesenchymal Stem Cells	treatment	2	completed
NCT03050268	Familial Investigations of Childhood Cancer Predisposition	No drug interventions	Not Available	Not Available	recruiting
NCT01917708	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases	Abatacept	supportive_care	1	completed
NCT00673608	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload	Deferasirox	treatment	4	completed
NCT00229619	Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia	Rituximab	treatment	2	completed
NCT00061763	Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias	Deferasirox	treatment	2	completed
NCT04269889	Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag	Eltrombopag	treatment	1 / 2	active_not_recruiting