Disease

DNA Repair-Deficiency Disorders

Clinical development underwayEmerging research

MeSHDNA Repair-Deficiency Disorders

Publications

Clinical trials

2024

Latest publication

Latest activity

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Recent clinical, regulatory, research and industry developments relating to this disease.

DNA repair deficiencies and neurodegeneration.

Research2024-04-16DNA repair

What's happening now

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

Executive briefingUpdating summary…Momentum: Low

Key developments

1 clinical trial with recent milestones (1 completed or reporting results).

Major developments

Major trial resultsImportant

Phase Ib Trial of L-NMMA in Combination With Pembrolizumab in Patients With Melanoma, Non-Small Cell Lung Cancer, Head and Neck Squamous Cell Carcinoma, Classical Hodgkin Lymphoma, Urothelial Carcinoma, Cervical Cancer, Esophageal Cancer, Gastric Cancer, Hepatocellular Carcinoma, Merkel Cell Carcinoma, Primary Mediastinal Large B-cell Lymphoma, Renal Cell Carcinoma, Small Cell Lung Cancer, Microsatellite Instability-High/Mismatch Repair Deficient Cancer, or for the Treatment of Adult Patients With Unresectable or Metastatic Tumor Mutational Burden-High Solid Tumors

Results posted2026-04-09

Clinical Milestones1View

Results posted 1

2026-04-09Phase Ib Trial of L-NMMA in Combination With Pembrolizumab in Patients With Melanoma, Non-Small Cell Lung Cancer, Head and Neck Squamous Cell Carcinoma, Classical Hodgkin Lymphoma, Urothelial Carcinoma, Cervical Cancer, Esophageal Cancer, Gastric Cancer, Hepatocellular Carcinoma, Merkel Cell Carcinoma, Primary Mediastinal Large B-cell Lymphoma, Renal Cell Carcinoma, Small Cell Lung Cancer, Microsatellite Instability-High/Mismatch Repair Deficient Cancer, or for the Treatment of Adult Patients With Unresectable or Metastatic Tumor Mutational Burden-High Solid TumorsResults posted

Activity timeline1

2026-04-09ClinicalPhase Ib Trial of L-NMMA in Combination With Pembrolizumab in Patients With Melanoma, Non-Small Cell Lung Cancer, Head and Neck Squamous Cell Carcinoma, Classical Hodgkin Lymphoma, Urothelial Carcinoma, Cervical Cancer, Esophageal Cancer, Gastric Cancer, Hepatocellular Carcinoma, Merkel Cell Carcinoma, Primary Mediastinal Large B-cell Lymphoma, Renal Cell Carcinoma, Small Cell Lung Cancer, Microsatellite Instability-High/Mismatch Repair Deficient Cancer, or for the Treatment of Adult Patients With Unresectable or Metastatic Tumor Mutational Burden-High Solid TumorsResults posted

Clinical trials

1 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme

All trials

Active

Late-stage

Completed

Recently completed

Phase 1 · Completed · The Methodist Hospital Research Institute

Research activity

1 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Most influential

DNA repair deficiencies and neurodegeneration.

DNA repair · 2024 · 15 cites

Recent publications

DNA repair deficiencies and neurodegeneration.

DNA repair · 2024 · 15 cites

Major themes2

DNA Repair1
Neurodegenerative Diseases1

Leading journals1

DNA repair1

Leading researchers3

Gallrein C1
Ropert B1
Schumacher B1

Affiliations (unnormalised)1

Institute for Genome Stability in Aging and Disease1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.

Identifiers

MeSHDNA Repair-Deficiency Disorders

References & data sources

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