Idiopathic aplastic anemia

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ORPHA:88OMIM:609135D61.3
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4Active trials32Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Idiopathic aplastic anemia (IAA) is a rare and serious blood disorder where the bone marrow — the spongy tissue inside your bones — stops making enough blood cells. 'Idiopathic' means doctors cannot find a clear cause. The bone marrow contains stem cells that normally produce red blood cells, white blood cells, and platelets. In aplastic anemia, the immune system mistakenly attacks these stem cells, leaving the bone marrow empty or nearly empty. This is sometimes called 'bone marrow failure.' Because the body cannot make enough blood cells, people with this condition experience a range of serious symptoms. Low red blood cells cause fatigue and paleness. Low white blood cells make it hard to fight infections. Low platelets lead to easy bruising and bleeding that is difficult to stop. These problems can range from mild to life-threatening depending on how severe the bone marrow failure is. Treatment has improved greatly over the past few decades. Younger patients who have a matched donor may be cured with a bone marrow transplant (also called a stem cell transplant). For those who cannot have a transplant, immunosuppressive therapy — medicines that calm the immune system — is the main treatment. Newer drugs like eltrombopag have also improved outcomes. With proper treatment, many patients can achieve remission and live full lives.

Also known as:

Key symptoms:

Extreme tiredness and lack of energyShortness of breath, even with light activityPale or yellowish skinFrequent or severe infectionsUnexplained bruisingBleeding that takes a long time to stopSmall red or purple spots on the skin (petechiae)Bleeding gums or nosebleedsRapid or irregular heartbeatDizziness or lightheadednessHeadachesFever without an obvious causeHeavy menstrual bleeding in women

Clinical phenotype terms (12)— hover any for plain English
ReticulocytopeniaHP:0001896Retinal hemorrhageHP:0000573EcchymosisHP:0031364Bone marrow hypocellularityHP:0005528
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

5 events
Jan 2026HID-HSCT Versus IST as First-line Treatment for SAA

Institute of Hematology & Blood Diseases Hospital, China — NA

TrialNOT YET RECRUITING
Feb 2024JAK1/2 Inhibitor Ruxolitinib for Relapsed/Refractory Immune Bone Marrow Failure

National Heart, Lung, and Blood Institute (NHLBI) — PHASE1

TrialRECRUITING
Jan 2022Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation With Post-transplant Cyclophosphamide in Patients With Acquired Refractory Aplastic Anemia or in Relapse After Immunosuppression

Assistance Publique - Hôpitaux de Paris — PHASE2

TrialRECRUITING
Oct 2021Natural History of Acquired and Inherited Bone Marrow Failure Syndromes

National Heart, Lung, and Blood Institute (NHLBI) — NA

TrialRECRUITING
Apr 2018Lung and Bone Marrow Transplantation for Lung and Bone Marrow Failure

Paul Szabolcs — PHASE1, PHASE2

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Idiopathic aplastic anemia.

4 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

4 recruitingView all trials with filters →
Phase 21 trial
Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation With Post-transplant Cyclophosphamide in Patients With Acquired Refractory Aplastic Anemia or in Relapse After Immunosuppression
Phase 2
Actively Recruiting Prior treatment eligible
PI: Regis Peffault de Latour, Pr · Sites: Amiens; Angers +18 more · Age: 335 yrs
Phase 11 trial
JAK1/2 Inhibitor Ruxolitinib for Relapsed/Refractory Immune Bone Marrow Failure
Phase 1
Actively Recruiting Prior treatment eligible
PI: Emma M Groarke, M.D. (National Heart, Lung, and Blood Institute (NHLBI)) · Sites: Bethesda, Maryland · Age: 1899 yrs
N/A1 trial
Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
N/A
Actively Recruiting
PI: Emma M Groarke, M.D. (National Heart, Lung, and Blood Institute (NHLBI)) · Sites: Bethesda, Maryland · Age: 299 yrs

Specialists

Showing 25 of 32View all specialists →
MK
Maria Khan
Specialist
1 Idiopathic aplastic anemia publication
BA
Besma Ben Achour
Specialist
1 Idiopathic aplastic anemia publication
WH
Wassim Hmaied
Specialist
1 Idiopathic aplastic anemia publication
AA
Abdul Muqtadir Abbasi
Specialist
1 Idiopathic aplastic anemia publication
MS
Mohammad Usman Shaikh
Specialist
1 Idiopathic aplastic anemia publication
NA
Natasha Ali
LIBERTYVILLE, IL
Specialist
1 Idiopathic aplastic anemia publication
SS
Salman Muhammad Soomar
Specialist
1 Idiopathic aplastic anemia publication
RP
Regis Peffault de Latour, Pr
Amiens
Specialist

Rare Disease Specialist

ZL
Zhou-Ping Li
Specialist
1 Idiopathic aplastic anemia publication
TD
Tuphan Kanti Dolai
Specialist
1 Idiopathic aplastic anemia publication
MM
Manoranjan Mahapatra
Specialist
1 Idiopathic aplastic anemia publication
AZ
Amine Zahaf
Specialist
1 Idiopathic aplastic anemia publication
HL
Houda Lajmi
Specialist
1 Idiopathic aplastic anemia publication
MB
Malek Belhaj
Specialist
1 Idiopathic aplastic anemia publication
CC
Camelia Chaftar
Specialist
1 Idiopathic aplastic anemia publication
ZM
Zachariah DeFilipp, MD
ATLANTA, GA
Specialist
PI on 5 active trials
HM
Huang Jinbo, MD.
Tianjin, Tianjin Municipality
Specialist

Rare Disease Specialist

PI on 1 active trial
MM
Mitchell S Cairo, MD
HAWTHORNE, NY
Specialist
PI on 12 active trials
JM
Joanne Kurtzberg, MD
DURHAM, NC
Specialist
PI on 11 active trials
EM
Emma M Groarke, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 5 active trials
RN
Ryotaro Nakamura
Duarte, California
Specialist

Rare Disease Specialist

PI on 6 active trials
NM
Neal S Young, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 12 active trials

Treatment Centers

8 centers
⚗️ Trial Site

CHU Angers

📍 Angers

👤 Julien Rossignol, Dr

⚗️ Trial Site

CHU bordeaux

📍 Bordeau

👤 Léo RAZAKAMAMANTSOA

👤 Sebastien HASCOËT

⚗️ Trial Site

CHU Montpellier

📍 Montpellier

👤 Léo RAZAKAMAMANTSOA

⚗️ Trial Site

CHU Grenoble

📍 Grenoble

👤 Sebastien HASCOËT

👤 Julien Rossignol, Dr

⚗️ Trial Site

CHU Lille

📍 Lille

👤 Sebastien HASCOËT

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

Travel Grants

No travel grants are currently matched to Idiopathic aplastic anemia.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Idiopathic aplastic anemia

Disease timeline:

New recruiting trial: Lung and Bone Marrow Transplantation for Lung and Bone Marrow Failure

A new clinical trial is recruiting patients for Idiopathic aplastic anemia

New trial: Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation With Post-transplant Cyclophospham

Phase PHASE2 trial recruiting. Allogenic transplantation

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is my aplastic anemia, and what does that mean for my treatment options?,Am I a candidate for a bone marrow transplant, and how do we find a matching donor?,What are the risks and benefits of immunosuppressive therapy compared to transplant for my situation?,Should I or my family members be tested for inherited bone marrow failure syndromes?,What infections should I be most worried about, and how do I protect myself?,What activities or exposures should I avoid during treatment?,What are the chances of relapse, and what would happen if I relapse?

Common questions about Idiopathic aplastic anemia

What is Idiopathic aplastic anemia?

Idiopathic aplastic anemia (IAA) is a rare and serious blood disorder where the bone marrow — the spongy tissue inside your bones — stops making enough blood cells. 'Idiopathic' means doctors cannot find a clear cause. The bone marrow contains stem cells that normally produce red blood cells, white blood cells, and platelets. In aplastic anemia, the immune system mistakenly attacks these stem cells, leaving the bone marrow empty or nearly empty. This is sometimes called 'bone marrow failure.' Because the body cannot make enough blood cells, people with this condition experience a range of ser

How is Idiopathic aplastic anemia inherited?

Idiopathic aplastic anemia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Are there clinical trials for Idiopathic aplastic anemia?

Yes — 4 recruiting clinical trials are currently listed for Idiopathic aplastic anemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Idiopathic aplastic anemia?

25 specialists and care centers treating Idiopathic aplastic anemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.