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Disease

Congenital Abnormalities

Late-stage therapeutic developmentEmerging research
MeSHCongenital Abnormalities
1
Publications
5
Clinical trials
2024
Latest publication
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.
Clinical Milestones1View
Recently completed 1
Activity timeline1

Clinical trials

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

The current development programme across all trial phases.

Clinical programme
5
All trials
1
Active
4
Late-stage
4
Completed
Late-stage studies

Multi-centeR, Open-label Study to EValuate the Safety, Efficacy, and Pharmacokinetics of FIlsuVEz (Oleogel-S10) in Japanese Subjects With Epidermolysis Bullosa (REVIVE)

Phase 3 · Recruiting · Chiesi Farmaceutici S.p.A.

A Double Blind, Placebo Controlled, Fixed-Flexible Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome

Phase 4 · Completed · Maimonides Medical Center

An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia

Phase 3 · Completed · Kastle Therapeutics, LLC

A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of Mipomersen as Add-on Therapy in Homozygous Familial Hypercholesterolemia Subjects

Phase 3 · Completed · Kastle Therapeutics, LLC
Recently completed

A Double Blind, Placebo Controlled, Fixed-Flexible Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome

Phase 4 · Completed · Maimonides Medical Center

An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia

Phase 3 · Completed · Kastle Therapeutics, LLC

A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of Apolipoprotein B(ApoB) Reduction by ISIS 301012 on Liver Triglyceride Content in Subjects With Varying Degrees of Hyperlipidemia

Phase 2 · Completed · Kastle Therapeutics, LLC

A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of Mipomersen as Add-on Therapy in Homozygous Familial Hypercholesterolemia Subjects

Phase 3 · Completed · Kastle Therapeutics, LLC

Research activity

1 papers

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

Most influential

Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.

Frontiers in endocrinology · 2024 · 14 cites
Recent publications

Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.

Frontiers in endocrinology · 2024 · 14 cites
Major themes3
  • 46, XX Disorders of Sex Development1
  • Congenital Abnormalities1
  • Mullerian Ducts1
Leading journals1
  • Frontiers in endocrinology1
Leading researchers1
  • Herlin MK1
Affiliations (unnormalised)1
  • Department of Clinical Genetics1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Malformations of organs or body parts during development in utero.

Identifiers
MeSHCongenital Abnormalities
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.