Metabolism, Inborn Errors clinical trials
The registry lists 152 studies for Metabolism, Inborn Errors across more than 10 countries. 22 are recruiting or about to start. 31 of them are mainly about Metabolism, Inborn Errors (how this is decided). Per ClinicalTrials.gov, last updated 2026-11-09. Counting its 69 narrower conditions too, such as Gout: 3,268 studies, 709 open.
Get an email when these change. Save the Metabolism, Inborn Errors studies recruiting or about to start — once a week, free: studies that open, close, add sites or post results.
See an example email
Example · made-up studies
Breast cancer · Recruiting: 2 came in, 3 changed
What changed in your saved searches, Oct 31 – Nov 6:
A study of drug A after surgery for early breast cancer
Came in · now Recruiting
Drug B with hormone therapy in advanced breast cancer
Changed
· Sites: 4 added, including Seoul and Busan
· Enrollment: 300 → 450 participants
Exercise during chemotherapy
Now Active, not recruiting
One email a week for all your saved searches. Stop any time.
Who runs them
National Center for Research Resources (NCRR) (27) · ModernaTX, Inc. (6) · National Human Genome Research Institute (NHGRI) (5) · Kastle Therapeutics, LLC (4) · Regeneron Pharmaceuticals (4) · Alexion Pharmaceuticals, Inc. (3) · CENTOGENE GmbH Rostock (3) · Duke University (3)
What is being tested here
Drugs under test in Metabolism, Inborn Errors studies, those with the most open studies first. Medicines only given beside them are not counted. How drugs are counted
| Drug | Open | Phase 3 | All |
|---|---|---|---|
| Zodasiran | 1 | 1 | 1 |
| Rilonacept | 0 | 4 | 4 |
| Mipomersen | 0 | 2 | 4 |
| Tin mesoporphyrin | 0 | 0 | 4 |
| Busulfan | 0 | 0 | 2 |
| Fludarabine | 0 | 0 | 2 |
| Cysteine | 0 | 1 | 2 |
| Dichloroacetic Acid | 0 | 1 | 2 |
| Heme arginate | 0 | 0 | 2 |
| Carglumic acid | 0 | 1 | 2 |
Drug classes tested here Alkylating agents 3
Coming up
Studies recruiting or running, from their records. “Main data collection” ends at the primary completion date, the sponsor’s own estimate, which often moves.
All 4, phase 3 first
- Jul 2027A Phase 3 Study of NTLA-2001 in ATTRv-PN · Phase 3 · Intellia Therapeutics
- Jan 2027Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC · Children's Hospital of Philadelphia
- May 2027Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU · metaX Institut fuer Diatetik GmbH
- Aug 2027Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia · ModernaTX, Inc.
Who these studies take
Of the 17 Metabolism, Inborn Errors studies recruiting now, 5 (29%) set no upper age limit and 8 (47%) stop at 75 or younger. 16 (94%) take children under 18. 0 (0%) are for women only and 0 (0%) for men only; 6 (35%) take healthy volunteers.
| Age | Women | Men |
|---|---|---|
| 10 | 14 (82%) | 14 (82%) |
| 18 | 15 (88%) | 15 (88%) |
| 30 | 12 (71%) | 12 (71%) |
| 40 | 11 (65%) | 11 (65%) |
| 50 | 11 (65%) | 11 (65%) |
| 65 | 9 (53%) | 9 (53%) |
| 75 | 9 (53%) | 9 (53%) |
| 85 | 9 (53%) | 9 (53%) |
Across all 152 studies, recruiting or not: 45% stop at 75 or younger and 41% at 65; 74% take children; 4% are for women only and 5% for men only; 13% take healthy volunteers. From each study’s registry entry; the criteria on its page decide.
What changed recently
From the registry's own updates since Oct 13, 2026.
Newly registered1
Studies
Recruiting first, then most recently updated. Showing 50 of 152. Browse all 152 → or search them.
- Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic AcidemiaRecruitingNCT028903421 country
- Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)RecruitingNCT068056953 countries
- Clinical and Laboratory Study of Methylmalonic AcidemiaRecruitingNCT000780781 country
- EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)Not yet recruitingNCT07894887Phase 1/21 country
- Study of Zodasiran in Adolescent Participants With Homozygous Familial HypercholesterolemiaRecruitingNCT07473843Phase 33 countries
- Study of AlkaptonuriaRecruitingNCT000059091 country
- Market Research of a Slow Release Protein Substitute for the Dietary Management of PKUNot yet recruitingNCT07802366Not applicable1 country
- An Evaluation of Nutritional Status, Body Composition, and Dietary Intakes of Filipino Pediatric Patients With Inborn Errors of Intermediary Protein MetabolismRecruitingNCT078373361 country
- A Long-Term Observational Study of Patients With FucosidosisRecruitingNCT076154006 countries
- Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIBNot yet recruitingNCT07818759Phase 1/21 country
- Metabolites in Blood and Breath in Metabolic ConditionsNot yet recruitingNCT07704606
- Phase 1/2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab/CD19 Depleted HSCTRecruitingNCT06839456Phase 1/21 country
- Registry of Patients Diagnosed With Lysosomal Storage DiseasesRecruitingNCT056199001 country
- A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 StudyRecruitingNCT05130437Phase 1/28 countries
- Expanded Access Protocol Using CD3+/CD19+ Depleted PBSCRecruitingNCT02356653Early Phase 11 country
- Open-Label Study of mRNA-3927 in Participants With Propionic AcidemiaRecruitingNCT04159103Phase 1/28 countries
- Institutional Registry of Rare DiseasesRecruitingNCT065737231 country
- An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705RecruitingNCT05295433Phase 1/26 countries
- Effect of Large Neutral Amino Acids in Adults With Classical PhenylketonuriaRecruitingNCT06337864Not applicable1 country
- Growth and Development of Children With Inborn Errors of Metabolism in Assiut GovernorateNot yet recruitingNCT066547651 country
- Blood Spot and Urine Metabolomic Screening Applied to Rare DiseasesRecruitingNCT06360913Not applicable1 country
- Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in KazakhstanRecruitingNCT059101511 country
- A Phase 3 Study of NTLA-2001 in ATTRv-PNActive, not recruitingNCT06672237Phase 36 countries
- Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCTActive, not recruitingNCT05739643Phase 1/21 country
- Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry ProtocolCompletedNCT023221771 country
- Inherited Diseases, Caregiving, and Social NetworksCompletedNCT014982631 country
- An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC DeficiencyActive, not recruitingNCT06255782Phase 34 countries
- A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)TerminatedNCT05394064Phase 1/22 countries
- Identification of a New Gene Involved in Hereditary LipodystrophyCompletedNCT02056912Not applicable1 country
- EasiVits Acceptability & Tolerance StudyActive, not recruitingNCT07619170Not applicable1 country
- COVID-19 and Hereditary Metabolic DiseasesWithdrawnNCT046454981 country
- Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical TrialActive, not recruitingNCT072266221 country
- A Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic AcidemiaTerminatedNCT04899310Phase 1/26 countries
- Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic DisordersCompletedNCT043996941 country
- Treosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant DiseasesCompletedNCT02349906Phase 24 countries
- Study of Disease Progression in Adults With Inherited Forms of Spastic ParaplegiaTerminatedNCT050088743 countries
- North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2CompletedNCT03548779Not applicable1 country
- ORCHARD- Optimising Home Assessment of Rural PatientsCompletedNCT05732922Not applicable1 country
- Olezarsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS)Approved for marketingNCT063602371 country
- Cardiac Manifestation and Inherited Metabolic DiseasesCompletedNCT049995661 country
- Orphan Drugs for Inherited Metabolic DiseasesCompletedNCT058185661 country
- Targeted Interventions for Successful Transition and Transfer of Adolescents With Inborn Errors of Metabolism to Adult ServicesStatus unknownNCT05413278Not applicable2 countries
- Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3)TerminatedNCT05764239Phase 34 countries
- An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1CompletedNCT03350451Phase 25 countries
- Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)CompletedNCT053300391 country
- Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic AcidemiaTerminatedNCT04581785Phase 1/21 country
- Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1Approved for marketingNCT04125472
- Evaluation of PKU ExploreCompletedNCT03168399Not applicable1 country
- Evaluation of PKU StartCompletedNCT03058848Not applicable1 country
- Study of HST5040 in Subjects With Propionic or Methylmalonic AcidemiaTerminatedNCT04732429Phase 23 countries