Inborn Errors of Metabolism
📧 Sign up to get email alerts when something new happens for Inborn Errors of Metabolism.
Sign up freeTop drugs studied for this disease
-
EMA approval · 2026-06-09EMA Authorised: Orphacol (cholic acid) — Theravia
Orphacol (cholic acid) has been authorised in the EU for its indicated digestive/metabolic indications.
-
CLINICAL_TRIALS research · 2026-04-20Clinical Trial Update: Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol
This update outlines a pregnancy registry protocol to study maternal outcomes in pregnancies affected by inborn errors of metabolism, includ…
-
CLINICAL_TRIALS research · 2026-04-08Clinical Trial Update: Clinical and Laboratory Study of Methylmalonic Acidemia
This entry reports an ongoing clinical and laboratory study of methylmalonic acidemia, a metabolic disorder, sponsored by the National Human…
-
CLINICAL_TRIALS trial_result · 2026-04-06Clinical Trial Update: Inherited Diseases, Caregiving, and Social Networks
NHGRI-sponsored trials investigating undiagnosed diseases, inherited metabolic and neurodegenerative disorders, and Alzheimer's-related deme…
-
CLINICAL_TRIALS research · 2026-03-10Clinical Trial Update: Evaluation of Therapeutic Adherence Among Patients Followed in the Department of Hereditary Metabolic Diseases at Necker Hospital
This clinical trial is evaluating therapeutic adherence among patients with hereditary/metabolic disorders at Necker Hospital; the study is …
- Want full summaries, importance scores, and drug timelines? Upgrade to Plus or Pro.
-
CLINICAL_TRIALS research · 2026-02-20Clinical Trial Update: Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC [EARLY_Phase 1]
An early-phase expanded-access protocol evaluating CD3+/CD19+ depleted peripheral blood stem cells for leukemia and related immunodeficiency…
-
CLINICAL_TRIALS research · 2026-01-15Clinical Trial Update: Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
This completed clinical trial update from Duke University describes identifying and characterizing novel non-coding genetic variants that co…
-
CLINICAL_TRIALS research · 2026-01-14Clinical Trial Update: Institutional Registry of Rare Diseases
An institutional registry for rare diseases sponsored by Hospital Italiano de Buenos Aires is currently recruiting. The registry includes am…
-
CLINICAL_TRIALS trial_result · 2025-12-08Clinical Trial Update: Treosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant Diseases [Phase 2]
A Phase 2 trial comparing treosulfan-based conditioning to busulfan-based conditioning in pediatric patients with non-malignant diseases has…
-
CLINICAL_TRIALS research · 2025-11-20Clinical Trial Update: Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants
Clinical trial update describing expanded access to T-cell-depleted haplo-identical stem cells for patients undergoing haplo-identical or un…
-
CLINICAL_TRIALS trial_result · 2025-05-13Clinical Trial Update: North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 [NA]
ClinicalTrials.gov update indicates the UNC Chapel Hill genomic evaluation study using next-generation exome sequencing has completed and po…
-
CLINICAL_TRIALS trial_result · 2025-03-30Clinical Trial Update: ORCHARD- Optimising Home Assessment of Rural Patients [NA]
ORCHARD, a trial on Optimising Home Assessment of Rural Patients, has completed; the update provides no trial results in this notice.
-
CLINICAL_TRIALS trial_result · 2024-12-04Clinical Trial Update: Orphan Drugs for Inherited Metabolic Diseases
A trial update from the University of Lausanne indicates completion of studies on orphan drugs for inherited metabolic diseases. The snippet…
-
CLINICAL_TRIALS trial_result · 2024-12-04Clinical Trial Update: Cardiac Manifestation and Inherited Metabolic Diseases
A completed clinical trial evaluating cardiac manifestations in patients with inborn errors of metabolism.
-
CLINICAL_TRIALS research · 2024-08-06Clinical Trial Update: Targeted Interventions for Successful Transition and Transfer of Adolescents With Inborn Errors of Metabolism to Adult Services [NA]
This clinical trial update describes a study of targeted interventions to help adolescents with inborn errors of metabolism transition to ad…
-
CLINICAL_TRIALS research · 2020-07-08Clinical Trial Update: North Carolina Newborn Exome Sequencing for Universal Screening [NA]
A completed clinical trial from UNC Chapel Hill evaluating newborn exome sequencing for universal screening, with results posted in 2020.
-
CLINICAL_TRIALS trial_result · 2020-02-17Clinical Trial Update: N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia [Phase 2, Phase 3]
Phase 2/3 trial update for N-Carbamylglutamate (Carbaglu) in the treatment of hyperammonemia due to inborn errors of metabolism.
-
CLINICAL_TRIALS trial_result · 2018-08-21Clinical Trial Update: CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant [Phase 2]
Phase 2 clinical trial update on CD34+ selection for partially matched family or matched unrelated adult donor transplants in leukemia and l…
-
CLINICAL_TRIALS trial_result · 2017-06-29Clinical Trial Update: Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells [Phase 1]
A Phase 1 trial of unrelated umbilical cord blood transplantation augmented with ALDHbr cord blood cells has completed, with the update desc…
-
CLINICAL_TRIALS withdrawal · 2017-06-29Clinical Trial Update: Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases [Phase 1]
Phase 1 fetal umbilical cord blood transplant trial for lysosomal storage diseases has been withdrawn.
-
CLINICAL_TRIALS trial_result · 2017-03-09Clinical Trial Update: Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models [NA]
A completed study evaluating montmorillonite's protein-sorbent properties in vitro and in vivo models relevant to urea cycle disorders and o…
-
CLINICAL_TRIALS trial_result · 2016-03-15Clinical Trial Update: Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases [EARLY_Phase 1]
An early-phase, first-in-humans trial is testing anti-oxLDL IgM antibodies as a potential treatment for lipid metabolism disorders arising f…
-
CLINICAL_TRIALS trial_result · 2014-12-09Clinical Trial Update: 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 [NA]
A completed clinical trial evaluating total body irradiation and fludarabine followed by allogeneic transplantation with cyclosporine and my…
-
CLINICAL_TRIALS trial_result · 2014-08-20Clinical Trial Update: The Early History of Universal Screening for Metabolic Disorders
This completed clinical trial update from the University of Miami provides historical context on the early universal screening programs for …
-
CLINICAL_TRIALS trial_result · 2014-08-13Clinical Trial Update: Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders [Phase 1]
Clinical trial update on reduced intensity conditioning for umbilical cord blood transplantation in pediatric patients with non-malignant di…