Clinical Trials for Amino Acid Metabolism Disorders

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Amino Acid Metabolism Disorders from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 50
• Recruiting: 26
• Active, not recruiting: 6
• Completed: 13
• Other: 5

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT01659749 — Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria

The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD) about their disease and nutrition related issues in a camp environment. It will also look at pregnancy outcome results in women with PKU who attended Metabolic Camp and compare their results to other women with PKU who have not attended the M…

NCT00001456 — Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).

The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The major compl…

NCT00005909 — Study of Alkaptonuria

The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. S…

NCT00005917 — Study of Chediak-Higashi Syndrome

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and eventual progression to a lymphohistiocytic infiltration known as the accelerated phase . Death often occurs within the first decade as a result of infectio…

NCT00078078 — Clinical and Laboratory Study of Methylmalonic Acidemia

Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer from complications such as metabolic stroke or infarction of the basal ganglia, pancreatitis, end stage renal failure, growth impairment, osteoporosis…

NCT02132741 — Optical Coherence Tomography And NEphropathy: The OCTANE Study

Patients with high blood pressure (hypertension) and chronic kidney disease are at an increased risk of developing heart disease and strokes. Part of this risk is due to changes in the structure and function of the blood vessels throughout the body. It is thought that reducing high blood pressure and treating chronic kidney disease improves the structure and function of blood vessels but inform…

NCT02890342 — Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia

Background:

People s bodies need to break down food into the chemicals. These chemicals are used for energy and growth. Some people cannot process all chemicals very well. Too much of some chemicals can cause diseases. One of these diseases is called propionic acidemia (PA). People with PA can have problems with growth, learning heart, abdomen, and other organs. Researchers want to better unde…

NCT05499702 — The Effects of Glucagon on Hepatic Metabolism in People With Type 2 Diabetes After Caloric Restriction

Caloric restriction (and RYGB) improves insulin action and lowers fasting glucose, glucagon and EGP, without changes in postprandial EGP and glucagon concentrations. Caloric restriction also improves hepatic steatosis and lowers fasting AA. These changes may represent restoration of glucagon’s hepatic actions. This experiment will determine whether caloric restriction improves glucagon’s action…

NCT05234723 — Ganciclovir Resistant/Refractory Cytomegalovirus Infection in SOT Recipients and HSCT Patients

The ReCySOHT study is a multicenter, retrospective, observational case-control study on the risk factors for developing a ganciclovir-resistant/refractory (GCV-RR) cytomegalovirus infection in patients receiving solid organ transplant (SOT) or hematopoietic stem cell transplant (HSCT). Aims of the study are to investigate the incidence of and risk factors for GCV-RR CMV infection in SOT recipie…

NCT06247085 — A Study to Investigate Efficacy and Safety of Pegtibatinase Compared With Placebo in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) Due to Cystathionine Beta Synthase Deficiency Receiving Standard of Care Treatment

The purpose of this study is to measure efficacy and safety of pegtibatinase treatment compared with placebo in participants with classical HCU receiving standard of care. Study details include:

• Total Study duration: up to 38 weeks

• Screening:

  • Initial Screening duration: up to 4 weeks
  • Pre-treatment Diet Standardization Period duration: up to 6 weeks

• Blinded Treatment Duration: 24…

NCT06302348 — A Study of Sepiapterin in Participants With Phenylketonuria (PKU)

The main purpose of this trial is to evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with PKU when treatment is initiated in early childhood.

NCT06289348 — Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.

The aims of this collaborative, interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare, serious disease present since birth and detected in the context of the systematic neonatal screening (DNS), in terms of the parents’ experience, but also on the part of the medical team, in order to improve its process and the support it provi…

NCT06491615 — National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases

Background:

The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped t…

NCT06750497 — Forearm Immobilization in T2D

The aim of the present study is to assess the impact of short-term forearm immobilization on forearm muscle glucose uptake and amino acid net balance and kinetics in individuals with T2D compared with a control group with normoglycaemia.

NCT07672756 — A Clinical Study on the Safety and Tolerability of PL54 Injection in Adult Patients With Phenylketonuria (PKU)

The primary objective of this clinical trial is to evaluate the safety and tolerability of single and multiple administrations of PL54 in patients aged 18-55 years. The key questions it aims to answer include:

How safe and tolerable is PL54 in PKU patients following single and multiple administrations?

Researchers will compare the safety and tolerability profiles between single and multiple d…

NCT06953505 — At Home Ammonia Monitoring of Inborn Errors of Ammonia Metabolism

The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home.

The main question it aims to answer is:

• Will participants measure their ammonia every day?

Participants will be asked to:

• Attend two in-person study visits at the clinic.
• Measure temperature, heart rate, and blood oxygen every day.
• Complete …

NCT06971731 — A Study of JNT-517 in Participants With Phenylketonuria (PKU)

The goal of this Phase 3, randomized study is to assess the safety, efficacy, tolerability, and pharmacokinetics (PK) of oral JNT-517 in adults (18 years of age or older) with PKU. Participants will receive either JNT-517 or placebo and will be blinded to their treatment assignment. Participants will have a 2 in 3 (or approximately 67%) chance of receiving JNT-517 during the first part of the s…

NCT07484945 — Multiomics Approach in Adult Patients With Phenylketonuria

The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.

NCT07446400 — A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine, Rosuvastatin, and Methotrexate When Administered Together

The purpose of this study is to assess the drug-drug interaction (DDI) of repinatrabit with ethinyl estradiol/norethindrone or norethisterone (EE/NE), metformin, rosuvastatin, carbamazepine, and methotrexate in healthy participants.

NCT07241234 — A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria

The primary purpose of this study is to assess the safety and tolerability of AG-181 in subjects with Phenylketonuria (PKU).

NCT07573059 — Evaluation of the Safety of Loargys Arginine Test System in Loargys-treated Patients

Arginase 1 deficiency (ARG1-D) is a rare condition in which the body cannot properly break down a substance called arginine. This leads to high levels of arginine and related substances in the blood, which can cause serious health problems and reduce quality of life.

Loargys is a new treatment designed to lower arginine levels in people with ARG1-D. It works by providing a modified version of …

NCT07477691 — Immune Modulation During Palynziq® Treatment in Adults (IMPALA)

Study 165-401 is a Phase 4, open-label study designed to examine the concomitant use of methotrexate (MTX) to suppress immune responses to Palynziq and improve tolerability and efficacy in adults with PKU.

NCT07643844 — AAVrh10-PCCA Gene Therapy for Propionic Acidemia

Propionic acidemia is a genetic metabolic disorder characterized by metabolic acidosis, ketosis, vomiting, lethargy, cognitive impairment, and risk of death. It results from loss of function of the mitochondrial enzyme propionyl-CoA carboxylase and can be due to disease-causing variants in the PCCA gene, leading to accumulation of propionyl-CoA and its toxic metabolites. The purpose of this tri…

NCT07459504 — SMART Diets for MASLD

This phase 2 trial is a single-site sequential, multiple assignment, randomized trial (SMART) to test and construct a high-quality adaptive intervention of essential amino acids (EAA) and/or Low Sugar Diet for children with metabolic dysfunction associated steatotic liver disease (MASLD) and increased cardiometabolic risk. The basis for the trial includes high-quality pilot data in both EAA for…

NCT07313007 — Assessment of Gut Microbiota-Derived Amino Acid Metabolite Production in Patients With MASLD

Metabolic dysfunction-associated steatotic liver disease (MASLD) encompasses a spectrum of liver disorders ranging from simple steatosis-a relatively benign and non-progressive condition-to metabolic dysfunction-associated steatohepatitis (MASH), characterized by hepatocellular inflammation. MASLD is now the leading cause of chronic liver disease worldwide, affecting approximately one in three …

NCT07685210 — GenSci144 Tablets Phase I Clinical Trial

This study is a Phase I single ascending dose clinical trial in which healthy adult volunteers were administered single oral doses of GenSci144 tablets at different levels. It was conducted using a randomized, double-blind, placebo-controlled design, primarily to evaluate the drug’s safety and tolerability, while also exploring its pharmacokinetic and pharmacodynamic characteristics in the body…

Active, Not Recruiting

NCT00084305 — Analysis of Specimens From Individuals With Pulmonary Fibrosis

The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination from individuals with this disorder may contribute to our understanding of the pathogenic mechanisms of pulmonary fibrosis. The purpose of this protocol is to procure an…

NCT03636438 — Long Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC Deficiency

Determine the long-term safety of DTX301 following a single intravenous (IV) dose in adults with late-onset ornithine transcarbamylase (OTC) deficiency.

NCT03655223 — Early Check: Expanded Screening in Newborns

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health condi…

NCT05166161 — A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria

The main purpose of this study is to evaluate the long-term safety of PTC923 in participants with phenylketonuria, and to evaluate the changes from baseline in dietary phenylalanine (Phe)/protein consumption.

NCT05345171 — Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency

The primary objective is to evaluate the efficacy of DTX301 on the improvement of ornithine transcarbamylase (OTC) function by maintaining safe plasma ammonia levels.

NCT06240039 — Direct Versus Indirect Effect of Amino Acids on Hepatokines

Liver hormones are key metabolic regulators and increased in metabolic diseases, including fatty liver disease. The underlying mechanisms driving the elevated levels are currently unknown and presents a major challenge in understanding the interplay between liver hormones and fatty liver disease. The project aims to investigate what stimulates the liver to secrete its hormones and why the secre…

Not Yet Recruiting

NCT07667387 — A Phase I/II Open-label Safety and Efficacy Study of LNP.UCD.ABE in Patients With Urea Cycle Disorders.

This is a single-site Phase 1/2 open-label umbrella clinical trial designed to evaluate the safety, tolerability, and efficacy of a single intravenous dose of LNP.UCD.ABE in 5 pediatric subjects with severe infantile-onset UCDs. This is a master clinical protocol in which subjects with a variant in a urea cycle disorder (UCD) gene (CPS1, OTC, ASS1, ASL, ARG, NAGS, or SLC25A15) that is demonstra…

NCT07671859 — PKU Microtablets Case Studies

Phenylalanine (Phe) free protein substitutes are typically presented in ready to drink liquid or powder format and are made up with water to a set volume. Despite recent advancements related to the taste, scent and texture of commercially available protein substitutes, a proportion of PKU patients choose to consume tablet-based protein substitutes. Protein substitutes in tablet format may help …

Enrolling by Invitation

NCT06431893 — A Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE)

The goal of this long-term extension (LTE) study is to evaluate the safety and efficacy of pegtibatinase in patients with classical homocystinuria (HCU). Patients who are active in the Phase 1/2 COMPOSE study or those who complete the 24 weeks of blinded treatment in the Phase 3 HARMONY are eligible to participate.

Participants will be in this clinical study for a minimum of 108 weeks includin…

Completed Trials

NCT04068961 — New Strategies of Genetic Study of Patients With Oculocutaneous Albinism

The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.

NCT01619722 — Study of a National Cohort of Adult Patients With Phenylketonuria

Phenylketonuria (PKU) is a metabolic disease of genetic origin. This is a rare disease (incidence 1 / 16000 births) which is the subject of a systematic neonatal screening in France, because it is treatable by a diet low in phenylalanine. This plan is required upon confirmation of diagnosis and continued until the age of 8 years. The current trend is to continue the scheme at least until adoles…

NCT02322177 — Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol

Background:

- People with inborn errors of metabolism can t turn food into energy the right way. This can affect a person s growth and health. Researchers want to know how this condition affects a pregnant woman and her baby.

Objectives:

- To collect data from the medical records of women with an inborn error of metabolism. Also, to create a pregnancy registry of inborn errors of metabolis…

NCT03856203 — Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase

Conduct a prospective, longitudinal study to evaluate nutritional status in adults with phenylketonuria (PKU) before and during treatment with pegvaliase (Palynziq™).

NCT04679467 — Evaluation of PKU Sphere in Italy

20 participants with PKU will build-up their dietary intake of PKU sphere over 2-16 weeks, depending on their level of metabolic control whilst doing so. Participants will complete a gastrointestinal specific and PKU specific questionnaire at the Baseline clinic visit and record the amount of PKU sphere taken each day. Dried blood spots are taken twice per week.

Once built up to a clinically a…

NCT05051657 — Evaluation of the Express Plus Range

A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM. The following parameters will be assessed: adherence to prescribed dietary intakes, palatability, usability, gastrointestinal tolerance, clinically relevant routine biochemical parameters, timeframe to transition and contribution of the express pl…

NCT05076318 — Dysregulated Urea-synthesis at Terminal Uremia

This project will examine the dysregulation of the urea cycle in patients with terminal uremia using a validated method named “Functional Hepatic Nitrogen Clearance”

NCT05781399 — First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria

The goal of Parts A and B of this Phase 1/2, first-in-human, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of single (SAD) and multiple (MAD) ascending doses of oral JNT-517 in healthy participants. In Part C, the goal is to evaluate the differences in bioavailability between a tablet and suspension formulation of JNT-517 and the food effect in healthy volunt…

NCT05412160 — Improving Quality of Life and Daily Life Activities With Bioarginine in Patients With COPD

Different studies have suggested that COPD is associated with elevated alveolar NO and increased expression of NOS2 in alveolar walls, small airway epithelium and vascular smooth muscle. Furthermore, arginase activity in COPD is shown to correlate inversely with total NO metabolite in sputum and with pre- and post- bronchodilator FEV1; at the same time ADMA levels in serum is shown to be correl…

NCT05995717 — Evaluation of PKU UP

PKU UP is a prospective, single-arm, open-label, 26-week acceptability study to evaluate PKU UP for the dietary management of participants with phenylketonuria (PKU). Up to 15 participants aged 1 - 10 years old will be recruited and it is anticipated the study will open in at least three sites in the United Kingdom (UK) to recruit the target number of participants in the required timeframe.

NCT06582524 — Pegzilarginase in Subjects <24 Months Old With Arginase 1 Deficiency

This is an open-label, multicentre study to evaluate the safety, PK, and activity (PD) of weekly subcutaneous (SC) administration of pegzilarginase in subjects with ARG1-D who are < 24 months of age. The study consists of a screening period of up to 4 weeks, a subsequent 12-week treatment period, and a safety follow-up period of 8 weeks.

NCT06776224 — Visual (Path)Ways in Multiple Sclerosis - Part II

Multiple sclerosis (MS) is an inflammatory demyelinating and degenerative disease of the central nervous system. The mechanisms of neuro-axonal loss remain incompletely elucidated. An acute demyelinating lesion will produce both immediate and delayed axonal loss. Immediate axonal loss is linked to the occurrence of axonal transection. Delayed axonal loss is the cause of axonal degeneration in p…

NCT06637514 — A Phase 2 Study of JNT-517 in Adolescent Participants With Phenylketonuria

The goal of this Phase 2, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of oral JNT-517 in adolescents (12 to less than 18 years of age) with PKU. Participants will receive either JNT-517 or placebo and will be blinded to their treatment assignment. Participants will have a 4 in 5 (or 80%) chance of receiving JNT-517. The study will last for up to 63 days inc…

Other (Terminated)

NCT04433728 — Life With Phenylketonuria. Adult Neurological Outcome of PCU Screened Patients From 1971 to 2002.

You were detected during the neonatal period for phenylketonuria and you benefited from the diagnosis of an adapted dietetic care, and this for a variable duration according to the recommendations followed at that time.

The recommendations for the management of phenylketonuria have evolved considerably over time, lengthening the duration, rigor of the diet and target rates. However, few studie…

NCT05494658 — Impact of Preoperative Oral Branched-chain Amino Acids on Reducing Postoperative Insulin Resistance.

Postoperative insulin resistance refers to the phenomenon that the body’s glucose uptake stimulated by insulin is reduced due to stress effects such as trauma or the inhibitory effect of insulin on liver glucose output is weakened after surgery.

There is a clear link between postoperative insulin resistance and poor perioperative prognosis. Therefore, exploring interventions to reduce postoper…