Disease

B-cell immunodeficiency, distal limb anomalies, and urogenital malformations

Late-stage therapeutic development

Also known as B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome, BILU syndrome, Hoffman syndrome.

Clinical trials

Associated genes

Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate

Key developments

6 clinical trials expected to report results, the earliest in Q4 2027.

Upcoming Milestones

Major developments

Major trial resultsHigh impact

A Phase 3, Open-label, Non-controlled, Extension Study to Evaluate the Long-term Safety of TAK-771 in Japanese Patients With Primary Immunodeficiency Disease (PID)

Results posted2026-05-19

Upcoming trial readoutHigh impact

Application of Anti-Thymocyte Globulin(ATG) Individualized Dosing Model in Unrelated Donor Hematopoietic Stem Cell Transplantation

Results expected Q4 20292026-06-15

Clinical Milestones11View all 11

Results posted 2

Results expected 5

Recently completed 1

2026-06-30An Open-label, Multicenter Study to Assess the Pharmacokinetics, Safety, and Tolerability of Immune Globulin Subcutaneous (Human) IgPro20 in IG Treatment-naïve Subjects With Primary ImmunodeficiencyCompleted

Other updates 2

+3 more in the activity timeline below

Activity timeline11

Clinical trials

16 sponsors · 4 new · 3 completed in the last 12 months (net +4)

The current development programme across all trial phases.

Clinical programme

All trials

Active

Late-stage

Completed

Late-stage studies

A Phase 3, Open-label, Controlled, Randomized Study of Newly Diagnosed Multiple Myeloma Treatment, Designed to Evaluate the Efficacy and Safety of the Elranatamab-lenalidomide Combination as a Replacement for Chemotherapy Followed by Autologous Stem Cell Transplant in the Consolidation Phase, and to Compare Elranatamab With Standard of Care in the Maintenance Phase

Phase 3 · Recruiting · Intergroupe Francophone du Myelome

Fludarabine Plus Melphalan Versus Addition of Venetoclax to Fludarabine/Melphalan Conditioning Regimen for Allogeneic Hematopoietic Stem Cell Transplantation in AML/MDS Patients Aged > 50 Years: a Multicenter, Randomized, Phase 3 Trial

Phase 3 · Recruiting · First Affiliated Hospital of Zhejiang University

Application of Anti-Thymocyte Globulin(ATG) Individualized Dosing Model in Unrelated Donor Hematopoietic Stem Cell Transplantation

Phase 4 · Recruiting · Daihong Liu

CD19 Chimeric Antigen Receptor T-Cell Therapy Versus Donor Lymphocyte Infusion for Minimal Residual Disease in Patients With Ph-Negative Acute B-Lymphoblastic Leukemia After Hematopoietic Stem Cell Transplantation: A Prospective, Open-Label, Randomized Controlled Trial

Phase 3 · Recruiting · Peking University People's Hospital

Long-term Safety and Tolerability of TAK-881 in Subjects With Primary Immunodeficiency Diseases (PIDD)

Phase 3 · Active, not recruiting · Takeda

A Multicenter, Randomized, Controlled, Open-label Clinical Study to Evaluate the Efficacy and Safety of Letermovir Prophylaxis Duration Guided by Dynamic Monitoring of Specific T-cells for Preventing Cytomegalovirus Infection in Adult Recipients of Allogeneic Hematopoietic Stem Cell Transplantation in China.

Phase 4 · Recruiting · WeiShi

Recruiting

Phase 3 · Recruiting · Intergroupe Francophone du Myelome

Phase 3 · Recruiting · First Affiliated Hospital of Zhejiang University

Application of Anti-Thymocyte Globulin(ATG) Individualized Dosing Model in Unrelated Donor Hematopoietic Stem Cell Transplantation

Phase 4 · Recruiting · Daihong Liu

Phase 3 · Recruiting · Peking University People's Hospital

Phase 4 · Recruiting · WeiShi

Recently completed

An Open-label, Multicenter Study to Assess the Pharmacokinetics, Safety, and Tolerability of Immune Globulin Subcutaneous (Human) IgPro20 in IG Treatment-naïve Subjects With Primary Immunodeficiency

Phase 4 · Completed · CSL Behring

A Phase 3, Open-label, Non-controlled, Extension Study to Evaluate the Long-term Safety of TAK-771 in Japanese Patients With Primary Immunodeficiency Disease (PID)

Phase 3 · Completed · Takeda

A Phase III Randomized Trial for the Treatment of Newly Diagnosed Supratentorial PNET and High Risk Medulloblastoma in Children < 36 Months Old With Intensive Induction Chemotherapy With Methotrexate Followed by Consolidation With Stem Cell Rescue vs. the Same Therapy Without Methotrexate

Phase 3 · Completed · Children's Oncology Group

A Multi-Center Phase III Study of Autologous Transplantation for Patients With Multiple Myeloma Comparing Melphalan 280 mg/m2 + Amifostine With Melphalan 200 mg/m2 + Amifostine

Phase 3 · Completed · Fred Hutchinson Cancer Center

A Programme of Treatment Development for Older Patients With Acute Myeloid Leukemia and High Risk Myelodysplastic Syndrome

Phase 2/3 · Completed · The University of New South Wales

A Randomized Study of Purged Versus Unpurged Peripheral Blood Stem Cell Transplant Following Dose Intensive Induction Therapy for High Risk Neuroblastoma

Phase 3 · Completed · Children's Oncology Group

Associated genes

1 match

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

TOP2B0.72

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

DNA topoisomerase 2-betavia TOP2B0.72

Reference

Authoritative identity, definition & identifiers.

Synonyms

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome, BILU syndrome, Hoffman syndrome

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
Related entities are derived from literature co-mention (studied together) — associative, not causal.