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Disease

Choroideremia

Active therapeutic pipelineEmerging researchRising momentum
MeSHChoroideremia
3
Publications
7
Clinical trials
1
Related proteins
2018
Latest publication
Current focus
Adaptor biologyTherapeutic developmentGenetics & risk factors
Latest activity
beta

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

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).
Clinical Milestones1View
Recently completed 1
Activity timeline1

Clinical trials

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

The current development programme across all trial phases.

Clinical programme
7
All trials
1
Active
0
Late-stage
5
Completed
Recently completed

A Phase I/II Dose-escalating Study of the Safety, Tolerability and Efficacy of KIO-301 Administered Intravitreally to Patients With Retinitis Pigmentosa and Choroideremia (ABACUS)

Phase 1/2 · Completed · Kiora Pharmaceuticals, Inc.

A Phase 1/2 Safety Study in Subjects With CHM (Choroideremia) Gene Mutations Using an Adeno-Associated Virus Serotype 2 Vector to Deliver the Normal Human CHM Gene [AAV2-hCHM] to the Retina

Phase 1/2 · Completed · Spark Therapeutics, Inc.

An Open-Label Safety Study of Retinal Gene Therapy for Choroideremia With Bilateral, Sequential Administration of Adeno-Associated Viral Vector (AAV2) Encoding Rab Escort Protein 1 (REP1)

Phase 2 · Completed · Biogen

An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)

Phase 2 · Completed · Byron Lam

An Open Label Dose Escalation Phase 1 Clinical Trial of Retinal Gene Therapy for Choroideraemia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)

Phase 1/2 · Completed · University of Oxford

Research activity

3 papers

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

Publications over time
20142018
Major themes2
  • DNA Mutational Analysis1
  • Genetic Therapy1
Leading journals3
  • American journal of human genetics1
  • Lancet (London, England)1
  • Nature medicine1
Leading researchers8
  • MacLaren RE3
  • Webster AR3
  • Barnard AR2
  • Black GC2
  • Downes SM2
  • Groppe M2
  • Lotery AJ2
  • Seabra MC2
Affiliations (unnormalised)6
  • Clinical Neurosciences Group2
  • Manchester Centre for Genomic Medicine2
  • National Heart and Lung Institute2
  • Nuffield Laboratory of Ophthalmology2
  • Oxford Eye Hospital2
  • Cambridge University Hospitals NHS Foundation Trust1

Disease biology

1 match

Key proteins & gene products studied in this disease. Number shows shared papers.

Adaptor Proteins, Signal Transducing3

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness.

Identifiers
MeSHChoroideremia
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.