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Disease

Metabolism, Inborn Errors

Late-stage therapeutic developmentEmerging research
MeSHMetabolism, Inborn Errors
3
Publications
13
Clinical trials
2019
Latest publication
Latest activity
beta

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

Metabolomics for Investigating Physiological and Pathophysiological Processes.

Research2019-10-01Physiological reviews

A General Introduction to Glucocorticoid Biology.

Research2019-07-04Frontiers in immunology

Lysosomal storage diseases.

Research1991-01-01Annual review of biochemistry

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 expected to report results, the earliest in Q3 2027.
Upcoming Milestones
Clinical Milestones1View
Results expected 1
Activity timeline1

Clinical trials

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

The current development programme across all trial phases.

Clinical programme
13
All trials
1
Active
5
Late-stage
6
Completed
Late-stage studies

MAGNITUDE-2: A Phase 3, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of NTLA-2001 in Participants With Hereditary Transthyretin Amyloidosis With Polyneuropathy (ATTRv-PN)

Phase 3 · Recruiting · Intellia Therapeutics

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

A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy and Safety of Adding Ezetimibe 30 mg to An Ongoing Regimen of Ezetimibe 10 mg in Patients Homozygous Sitosterolemia

Phase 3 · Completed · Organon and Co

An Open-Label, Worldwide, Treatment Use Study to Provide Ezetimibe 10 Mg/Day to Patients With Homozygous Familial Hypercholesterolemia or Homozygous Sitosterolemia

Phase 3 · Terminated · Organon and Co
Recently completed

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

Study of Total Body Irradiation and Fludarabine Followed By Allogeneic Peripheral Blood Stem Cell or Bone Marrow Transplantation in Combination With Cyclosporine and Mycophenolate Mofetil in Patients With Inherited Disorders

N/A · Completed · Fred Hutchinson Cancer Center

A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy and Safety of Adding Ezetimibe 30 mg to An Ongoing Regimen of Ezetimibe 10 mg in Patients Homozygous Sitosterolemia

Phase 3 · Completed · Organon and Co

Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders

Phase 2 · Completed · National Center for Research Resources (NCRR)

Research activity

3 papers

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

Publications over time
19912019
Most influential

Metabolomics for Investigating Physiological and Pathophysiological Processes.

Physiological reviews · 2019 · 735 cites

Lysosomal storage diseases.

Annual review of biochemistry · 1991 · 384 cites

A General Introduction to Glucocorticoid Biology.

Frontiers in immunology · 2019 · 382 cites
Recent publications

Metabolomics for Investigating Physiological and Pathophysiological Processes.

Physiological reviews · 2019 · 735 cites

A General Introduction to Glucocorticoid Biology.

Frontiers in immunology · 2019 · 382 cites

Lysosomal storage diseases.

Annual review of biochemistry · 1991 · 384 cites
Major themes2
  • Energy Metabolism1
  • Metabolome1
Leading journals3
  • Annual review of biochemistry1
  • Frontiers in immunology1
  • Physiological reviews1
Leading researchers5
  • Libert C1
  • Neufeld EF1
  • Souffriau J1
  • Timmermans S1
  • Wishart DS1
Affiliations (unnormalised)4
  • Center for Inflammation Research1
  • Ghent University1
  • School of Medicine1
  • University of Alberta1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Identifiers
MeSHMetabolism, Inborn Errors
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.