Clinical trials: Amino Acid Metabolism
Argininosuccinic Aciduria, Argininosuccinate Lyase Deficiency
Nitric Oxide Supplementation in Argininosuccinic Aciduria
This is a study involving a dietary supplement. Patients with argininosuccinic aciduria will be randomly assigned to receive either a nitric oxide dietary supplement or placebo for 2 weeks, and then crossed-over to receive the…
- Conditions
- Argininosuccinic Aciduria, Argininosuccinate Lyase Deficiency, Urea Cycle Disorders
- Trial name
- NCT02252770
- Testing
- Nitric oxide supplement
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Baylor College of Medicine
Obesity Morbid, Weight Loss
Metabolic Effects of a Diet Replaced With Essential Amino Acids
The effectiveness of low-protein diets supplemented with essential aminoacid (EAA) formulas in genetic disorders of amino acid (AA) catabolism, such as maple syrup urine disease (MSUD), is widely recognized (Blackburn PR et al.
- Trial name
- AMINOB (NCT06309563)
- Testing
- Aminoacid supplementation
- Where
- Italy
- Volunteers
- 60 people
- Sponsor
- Istituto Auxologico Italiano
Lowe Syndrome
An Open-label, Phase 2 Pilot Study on the Efficacy and Safety of Piclidenoson in Patients With Lowe Syndrome
The primary objective of this trial is to: 1. Evaluate the efficacy of piclidenoson to increase renal uptake of 99mTc-labeled DMSA, in comparison to baseline, after 6 months (26 weeks) of treatment as a measure the reabsorption…
- Trial name
- NCT07410455
- Testing
- Piclidenoson
- Where
- Italy
- Volunteers
- 5 people
- Sponsor
- Can-Fite BioPharma
Homocystinuria
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).
- Trial name
- ENSEMBLE (NCT06431893)
- Testing
- Pegtibatinase
- Where
- 52 sites in United States, Australia and 12 more
- Volunteers
- 100 people
- Sponsor
- Travere Therapeutics, Inc.
Hypertension (HTN), Hyperhomocysteinemia
Homocysteine and Early Diastolic Dysfunction in Newly Diagnosed Hypertension
This prospective single-center observational study aims to evaluate the relationship between elevated plasma homocysteine levels and early echocardiographic abnormalities in patients with newly diagnosed essential hypertension.
- Conditions
- Hypertension (HTN), Hyperhomocysteinemia, Diastolic Dysfunction
- Trial name
- HHT-EDD (NCT07480265)
- Testing
- Homocysteine Measurement and Echocardiography
- Where
- Turkey (Türkiye)
- Volunteers
- 500 people
- Sponsor
- Necmettin Erbakan University
Quality of Life, Ichthyosis
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of…
- Conditions
- Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa
- Trial name
- NCT06330350
- Testing
- Qualitative interview
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
Mastocytosis
Molecular Mechanisms and Diagnosis of Mastocytosis
Mastocytosis is a disorder characterized by presence of excessive numbers of mast cells in skin, bone marrow and internal organs.
- Trial name
- NCT00336076
- Testing
- Collection of blood and bone marrow
- Where
- United States
- Volunteers
- 136 people
- Sponsor
- University of Michigan
Female Sex Hormones, Menstrual Cycle
Menstrual Cycle vs. Oral Contraceptives: Effects on Muscle Protein Metabolism After Resistance Exercise
The muscles of the body are constantly breaking down old proteins and building new ones. These two processes, protein breakdown and protein synthesis, together are known as protein turnover.
- Conditions
- Female Sex Hormones, Menstrual Cycle, Oral Contraceptives, Protein Metabolism
- Trial name
- MCOC (NCT07258576)
- Testing
- Protein Beverage, Stable Isotope Tracer [D5]phenylalanine, Stable Isotope Tracer [13C]phenylalanine
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Toronto
PKU
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).
- Trial name
- PKU UP (NCT05995717)
- Testing
- PKU UP
- Where
- 7 sites in United Kingdom
- Volunteers
- 16 people
- Sponsor
- Vitaflo International, Ltd
PKU, Phenylketonurias
Market Research - Acceptability Study for a New PKU Protein Substitute
The aim of this study is to demonstrate that a new protein substitute is acceptable and well tolerated in children with PKU.
- Conditions
- PKU, Phenylketonurias, Inborn Errors of Metabolism, Metabolic Disease
- Trial name
- NCT04318509
- Testing
- GMPOWER
- Where
- 2 sites in United Kingdom
- Volunteers
- 8 people
- Sponsor
- Dr. Schär AG / SPA
Hyperhomocysteinemia, Obesity
Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children
The purpose of the present study was to determine whether folic acid supplementation could reduce plasma homocysteine in obese children and to determine the association between dietary folate, serum folate and homocysteine level…
- Trial name
- NCT01766310
- Testing
- Folic Acid
- Where
- 2 sites in Thailand
- Volunteers
- 50 people
- Sponsor
- Queen Sirikit National Institute of Child Health
Rare Diseases, Albinism
Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.
Following on from the third national plan for rare diseases (PNMR3), the main objectives of the PNMR4 are to reduce diagnostic uncertainty and dead ends and to strengthen translational research to promote diagnosis and the…
- Conditions
- Rare Diseases, Albinism, Intellectual Disability
- Trial name
- LongEpi (NCT07400913)
- Testing
- Long-read sequencing
- Where
- France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Bordeaux
Maple Syrup Urine Disease
Liquid Valine and Isoleucine in Maple Syrup Urine Disease
This is a prospective, observational research study in 5 children with Maple Syrup Urine Disease (MSUD). Subjects who are currently taking a valine and isoleucine supplement for MSUD will be recruited for a 56 day trial, of a new…
- Trial name
- NCT06581991
- Testing
- Valine oral solution (50mg/ml) and isoleucine oral solution (25mg/ml)
- Volunteers
- 5 people
- Sponsor
- Meta Healthcare Ltd
Phenylketonurias
Safety and Efficacy Study of NGGT002 in Adult Patients With Phenylketonuria
This is a Phase 1/2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic Phenylketonuria (PKU).
- Trial name
- NCT06687733
- Testing
- NGGT002
- Where
- 2 sites in China
- Volunteers
- 18 people
- Sponsor
- NGGT (Suzhou) Biotechnology Co., Ltd.
Phenylketonuria
Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
The purpose of this study is to determine whether tetrahydrobiopterin (BH4)is effective in treating patients with PKU.
- Trial name
- NCT00244218
- Testing
- tetrahydrobiopterin (BH4)
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- The University of Texas Medical Branch, Galveston
Phenylketonuria
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.
- Trial name
- NCT07477691
- Testing
- Pegvaliase, Methotrexate
- Where
- 12 sites in United States
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias
The Effect of Nursing Empowerment Program
The study has shown that the strengthening program applied to the families of children diagnosed with phenylketonuria (PKU) and the education given; It will be conducted in order to examine the effect of the family's coping…
- Trial name
- NCT05497050
- Testing
- Family education
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Cukurova University
Sexual Assault, Substance Use
Nexus of Risk: Sexual Assault, Alcohol Use, and Risky Sex Among College Women
Sexual assault on college campuses has reached epidemic proportions, yet the etiological variables responsible for violence against women in these contexts remain unclear.
- Conditions
- Sexual Assault, Substance Use, Risky Health Behavior, Ema
- Trial name
- NCT05892692
- Testing
- Ecological Momentary Intervention
- Where
- United States
- Volunteers
- 183 people, healthy volunteers welcome
- Sponsor
- University of New Mexico
Phenylketonurias, PKU
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.
- Conditions
- Phenylketonurias, PKU, Homocystinuria, Maple Syrup Urine Disease
- Trial name
- express plus (NCT05051657)
- Testing
- PKU express plus
- Where
- 6 sites in United Kingdom
- Volunteers
- 28 people
- Sponsor
- Vitaflo International, Ltd
Hyperhomocysteinemia
Effect of S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine
The purpose of this study is to investigate whether S-adenosylmethionine (SAMe), a natural substance available as a nutritional supplement, can influence blood levels of homocysteine (Hcy).
- Trial name
- NCT00473200
- Testing
- S-adenosylmethionine
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Baylor Research Institute