Disorder of organic acid metabolism
MONDO:0045022A disease that has its basis in the disruption of organic acid metabolic process.
Also known as: disorder of organic acid metabolic process, disorder of organic acid metabolism, organic acid metabolic process disease, organic acid metabolism disorder
154 clinical trials for this condition and its sub-types, 0 tagged with Disorder of organic acid metabolism itself.
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Sub-types of Disorder of organic acid metabolism
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Disorder of phenylalanine metabolism 0 trials · 60 incl. sub-types
2 sub-types
- Phenylketonuria 57 trials · 60 incl. sub-types Sub-types →
- Tetrahydrobiopterin metabolic process disease 0 trials · 1 incl. sub-types Sub-types →
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Pyruvate metabolism disorder 0 trials · 31 incl. sub-types
4 sub-types
- Disorder of glycolysis 1 trial · 27 incl. sub-types Sub-types →
- Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types Sub-types →
- Mitochondrial pyruvate carrier deficiency 0 trials
- Pyruvate kinase hyperactivity 0 trials
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Disorder of fatty acid oxidation and ketogenesis 1 trial · 16 incl. sub-types
10 sub-types
- Acyl-CoA dehydrogenase deficiency 0 trials · 12 incl. sub-types Sub-types →
- Carnitine-acylcarnitine translocase deficiency 3 trials
- 3-hydroxy-3-methylglutaric aciduria 1 trial
- 3-hydroxyacyl-CoA dehydrogenase deficiency 1 trial
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 trial
- Systemic primary carnitine deficiency disease 1 trial
- Very long chain acyl-CoA dehydrogenase deficiency 1 trial
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 trials
- Acyl-CoA dehydrogenase 9 deficiency 0 trials
- Long chain acyl-CoA dehydrogenase deficiency 0 trials
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Scurvy 13 trials
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Inborn disorder of bile acid synthesis 2 trials · 12 incl. sub-types
5 sub-types
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Inborn disorder of methionine cycle and sulfur amino acid metabolism 0 trials · 11 incl. sub-types
6 sub-types
- Homocystinuria 7 trials · 11 incl. sub-types Sub-types →
- Encephalopathy due to sulfite oxidase deficiency 0 trials · 1 incl. sub-types Sub-types →
- Autosomal recessive extra-oral halitosis 0 trials
- Cystathioninuria 0 trials
- Disorder of methionine catabolism 0 trials Sub-types →
- Methionine adenosyltransferase deficiency 0 trials
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Disorder of tyrosine metabolism 0 trials · 8 incl. sub-types
5 sub-types
- Tyrosinemia 6 trials Sub-types →
- Alkaptonuria 2 trials
- TH-deficient dopa-responsive dystonia 1 trial
- Oculocutaneous albinism type 1 0 trials · 1 incl. sub-types Sub-types →
- Hawkinsinuria 0 trials
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Cerebral creatine deficiency syndrome 0 trials · 6 incl. sub-types
3 sub-types
- Creatine transporter deficiency 6 trials
- AGAT deficiency 1 trial
- Guanidinoacetate methyltransferase deficiency 1 trial
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Inborn disorder of branched-chain amino acid metabolism 0 trials · 4 incl. sub-types
7 sub-types
- Maple syrup urine disease 2 trials · 4 incl. sub-types Sub-types →
- Holocarboxylase synthetase deficiency 1 trial
- 3-hydroxyisobutyric aciduria 0 trials
- 3-hydroxyisobutyryl-CoA hydrolase deficiency 0 trials
- Branched-chain keto acid dehydrogenase kinase deficiency 0 trials
- Hypervalinemia and hyperleucine-isoleucinemia 0 trials
- Methylmalonate semialdehyde dehydrogenase deficiency 0 trials
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Inborn disorder of ornithine metabolism 0 trials · 4 incl. sub-types
2 sub-types
- Ornithine aminotransferase deficiency 4 trials
- P5CS deficiency 0 trials Sub-types →
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Biotin metabolic disease 0 trials · 3 incl. sub-types
2 sub-types
- Inborn error of biotin metabolism 0 trials · 3 incl. sub-types Sub-types →
- Nutritional biotin deficiency 0 trials
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Creatine biosynthetic process disease 0 trials · 1 incl. sub-types
2 sub-types
- AGAT deficiency 1 trial
- Guanidinoacetate methyltransferase deficiency 1 trial
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Gamma-amino butyric acid metabolism disorder 0 trials · 1 incl. sub-types
3 sub-types
- Succinic semialdehyde dehydrogenase deficiency 1 trial
- GABA aminotransaminase deficiency 0 trials
- Homocarnosinosis 0 trials Sub-types →
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Inborn serine deficiency 0 trials · 1 incl. sub-types
1 sub-type
- Neurometabolic disorder due to serine deficiency 0 trials · 1 incl. sub-types Sub-types →
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Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types
6 sub-types
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
- Fatal multiple mitochondrial dysfunctions syndrome 0 trials Sub-types →
- Lipoic acid synthetase deficiency 0 trials
- Lipoyl transferase 1 deficiency 0 trials
- Spasticity-ataxia-gait anomalies syndrome 0 trials
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Glycine metabolism disease 0 trials
1 sub-type
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2 sub-types
- Histidinemia 0 trials Sub-types →
- Urocanic aciduria 0 trials
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3 sub-types
- P5CS deficiency 0 trials Sub-types →
- Autosomal recessive cutis laxa type 2 0 trials Sub-types →
- Hyperprolinemia 0 trials Sub-types →
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3 sub-types
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Valine metabolism disease 0 trials
2 sub-types
- 3-hydroxyisobutyric aciduria 0 trials
- 3-hydroxyisobutyryl-CoA hydrolase deficiency 0 trials
Most studied deeper sub-types
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Could a daily pill help kids with rare blood disorder?
Disease control OngoingThis study tests a drug called mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The trial compares mitapivat to a placebo to see if it can raise hemoglobin levels…
Phase 3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
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Could a pill replace blood transfusions for kids with rare anemia?
Disease control OngoingThis phase 3 trial tests the drug mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic disorder that causes red blood cells to break down too quickly. These children need regular blood transfusions. The study compares mitapivat to a placebo to see if…
Phase 3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
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Lifeline drug mitapivat keeps flowing for rare blood disorder patients
Disease control By invitation onlyThis study offers continued access to the drug mitapivat for adults with pyruvate kinase deficiency who completed an earlier Agios-sponsored trial and cannot get the drug commercially. Only 6 participants are enrolled, and the main goal is to monitor side effects. The study does …
Phase 4 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
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New gene therapy aims to tame PKU in first human test
Disease control OngoingThis early-phase study tests a single IV dose of NGGT002 gene therapy in 15 adults with phenylketonuria (PKU), a genetic disorder that causes harmful buildup of phenylalanine. The main goal is to check safety over one year, with long-term follow-up for five years. Researchers wil…
Early phase 1 • Sponsor: The First Affiliated Hospital of Bengbu Medical University • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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New shot could free teens with PKU from strict diet
Disease control OngoingThis study tests an injectable drug called pegvaliase in 55 teenagers (ages 12-17) with phenylketonuria (PKU) who have high blood Phe levels despite diet management. Half get the drug, half stick to diet only. The goal is to see if pegvaliase safely lowers Phe levels and reduces …
Phase 3 • Sponsor: BioMarin Pharmaceutical • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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Could a urea cycle drug help MCAD patients fast longer?
Disease control PausedThis study tests whether sodium phenylbutyrate, a drug already approved for another condition, can help people with MCAD deficiency (a genetic disorder that affects fat breakdown). About 24 participants aged 10 and older will take the drug for 4 weeks. Researchers will check for …
Phase 2 • Sponsor: Jerry Vockley, MD, PhD • Aim: Disease control
Last updated Jul 08, 2026 00:00 UTC
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Could a fatty acid drug stop dangerous sugar crashes in rare disease?
Disease control CancelledThis study tests a drug called triheptanoin, already approved for similar conditions, to see if it can prevent dangerously low blood sugar in people with MCADD, a rare inherited disorder. About 24 participants aged 4 and older will take the medication and be monitored for safety …
Phase 2 • Sponsor: Jerry Vockley, MD, PhD • Aim: Disease control
Last updated Jul 04, 2026 00:00 UTC
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New study tracks Long-Term safety of rare disease treatment
Disease control OngoingThis study follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to check the long-term safety of their treatment, including for pregnant women and their babies. Researchers track serious side effects and disease complications. The goal is to better understa…
Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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New drug pegtibatinase tested for rare metabolic disorder over two years
Disease control By invitation onlyThis study tests the long-term safety and effectiveness of pegtibatinase in people with classical homocystinuria (HCU), a rare genetic disorder that prevents the body from breaking down certain amino acids. About 100 participants who completed earlier studies will receive the dru…
Phase 3 • Sponsor: Travere Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:38 UTC
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Gene therapy offers hope for rare blood disorder
Disease control PausedThis study tests a gene therapy for people with pyruvate kinase deficiency, a rare blood disorder causing severe anemia. Ten participants will receive their own blood stem cells modified with a healthy gene to help produce normal red blood cells. The goal is to raise hemoglobin l…
Phase 2 • Sponsor: Rocket Pharmaceuticals Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
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Can a One-Day allergy fix keep PKU patients on their meds?
Disease control OngoingThis study tests a rapid drug desensitization (RDD) protocol for adults with phenylketonuria (PKU) who have had allergic reactions to Palynziq. Over one day, patients receive gradually increasing doses to retrain their immune system. The goal is to see if they can safely restart …
Phase 4 • Sponsor: BioMarin Pharmaceutical • Aim: Disease control
Last updated Jun 27, 2026 12:04 UTC
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One-Time gene therapy could free PKU patients from strict diet
Disease control OngoingThis study tests a one-time gene therapy called SAR444836 for adults with phenylketonuria (PKU), a genetic disorder that makes it hard to break down an amino acid called phenylalanine. The therapy uses a harmless virus to deliver a working copy of the missing gene. Researchers wa…
Phase 1/2 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 07:51 UTC
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New york program offers extra screening for 100,000 newborns
Diagnosis By invitation onlyScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…
Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis
Last updated Jul 30, 2026 00:00 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Could a fatty acid drug stop dangerous sugar crashes in rare disease?
Prevention CancelledThis study tests a drug called triheptanoin in 8 adults with MCADD, a rare condition that can cause dangerously low blood sugar. The goal is to see if the drug is safe and can prevent hypoglycemia during fasting. Participants will stay overnight at a hospital for monitoring and b…
Phase 2 • Sponsor: Jerry Vockley, MD, PhD • Aim: Prevention
Last updated Jul 04, 2026 00:00 UTC
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Can a video-based therapy tame tough behaviors in kids with rare genetic disorders?
Symptom relief OngoingThis study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …
Sponsor: Rush University Medical Center • Aim: Symptom relief
Last updated Sep 20, 2026 00:00 UTC
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Could a common cholesterol drug ease chronic diarrhoea?
Symptom relief OngoingThis study tests whether atorvastatin, a drug typically used for cholesterol, can reduce bile acid production and improve symptoms in people with bile acid diarrhoea (BAD). Twenty adults with moderate-to-severe BAD will receive atorvastatin and a placebo in random order, each for…
Phase 4 • Sponsor: Asger Lund, MD • Aim: Symptom relief
Last updated Aug 13, 2026 00:00 UTC
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Global registry launches to unlock secrets of rare blood disorder
Knowledge-focused OngoingThis study is a global registry that will follow about 500 people with pyruvate kinase (PK) deficiency, a rare inherited anemia, for up to 9 years. Researchers will collect medical data to better understand the disease's natural history, treatments, and complications. No new drug…
Sponsor: Agios Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Aug 29, 2026 00:00 UTC
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Scientists track rare eye disease to uncover clues for future treatments
Knowledge-focused OngoingThis study follows 46 people with gyrate atrophy, a rare genetic condition that causes vision loss, over 4 years. Researchers measure ornithine levels in the blood and track changes in the retina using eye scans and photos. The goal is to learn how the disease progresses under st…
Sponsor: Jaeb Center for Health Research • Aim: Knowledge-focused
Last updated Aug 19, 2026 00:00 UTC
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Can a decade of real-world data refine treatment for rare bile acid disorders?
Knowledge-focused OngoingThis study is a patient registry that will follow people of any age with bile acid synthesis disorders who are treated with Cholbam (cholic acid). The goal is to collect information over 10 years on how the drug performs in routine clinical care, including its safety, effectivene…
Sponsor: Mirum Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Aug 02, 2026 00:00 UTC
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Hidden weight problem: PKU adults face higher obesity risk, scientists investigate why
Knowledge-focused By invitation onlyThis observational study looks at how common overweight and obesity are in adults with phenylketonuria (PKU) and what factors might contribute. Researchers will collect clinical data, lab results, and questionnaire responses on diet, exercise, and mental health from 100 adults at…
Sponsor: Christel Tran • Aim: Knowledge-focused
Last updated Jul 16, 2026 00:00 UTC
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Scientists track rare liver diseases in kids to unlock clues
Knowledge-focused PausedThis study follows up to 90 children and young adults with mitochondrial liver diseases to learn how these conditions progress over time. Researchers will collect medical data and samples to better understand the diseases and find markers that predict outcomes. The goal is to imp…
Sponsor: Arbor Research Collaborative for Health • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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Major study on rare childhood liver diseases halted
Knowledge-focused PausedThis study followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …
Sponsor: Arbor Research Collaborative for Health • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:02 UTC
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Could a simple creatine pill replace strict diets for a rare metabolic disorder?
Knowledge-focused OngoingThis early study tests whether taking creatine supplements for a week can lower the production of homocysteine, a toxic amino acid, in healthy adult men. Homocystinuria is a rare inherited disorder where the body cannot break down homocysteine, often requiring a difficult low-pro…
Sponsor: University of British Columbia • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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HT-1 drug study in china withdrawn before starting
Knowledge-focused CancelledThis study was designed to observe how patients with hereditary tyrosinemia type 1 (HT-1) in China respond to nitisinone treatment in everyday medical practice. It planned to track serious health events like liver problems or death. However, the study was withdrawn before enrolli…
Sponsor: Swedish Orphan Biovitrum • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:06 UTC
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48-Hour test may predict who benefits from PKU drug
Knowledge-focused OngoingThis study tests whether a 48-hour BH4 loading test can predict which people with phenylketonuria (PKU) will respond to treatment. Twenty participants receive BH4 and have their blood phenylalanine levels measured over two days. The goal is to link test results with each person's…
Phase 1 • Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC