Clinical trials: Amino Acid Metabolism, Inborn Errors
Urea Cycle Disorder
Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
THRIVE is an observational study that will collect information on patients with UCDs. THRIVE will follow enrolled participants for up to 10 years.
- Trial name
- THRIVE (NCT01948427)
- Where
- United States
- Volunteers
- 203 people
- Sponsor
- Amgen
Alkaptonuria
Long-Term Study of Nitisinone to Treat Alkaptonuria
This 3-year study will examine the safety and effectiveness of long-term use of nitisinone (Orfadin) for treating joint problems in patients with alkaptonuria, an inherited disease in which a compound called homogentisic acid…
- Trial name
- NCT00107783
- Testing
- Nitisinone (NTBC)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Phenylketonurias
Open-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on Daily PHE Fluctuation of PKU GOLIKE Versus SoC in Patients With PKU.
This is an open-label, randomized, 2-way crossover, monocentric controlled study in patients (≥ 16 years old) with phenylketonuria (PKU).
- Trial name
- NCT05827536
- Testing
- PKU GOLIKE, Standard of Care
- Where
- Italy
- Volunteers
- 21 people
- Sponsor
- APR Applied Pharma Research s.a.
Age-related Macular Degeneration, Stargardt Disease
Efficacy of Acupuncture in Macular Diseases
This is a single-arm study designed to assess the efficacy of acupuncture (Traditional Chinese Medicine) for chronic macular diseases of several types.
- Conditions
- Age-related Macular Degeneration, Stargardt Disease, Macular Dystrophy
- Trial name
- AMAD (NCT02255981)
- Testing
- Acupuncture and massage
- Where
- 2 sites in Colombia
- Volunteers
- 33 people
- Sponsor
- Escuela Neijing
Urea Cycle Disorders
Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children With Urea Cycle Disorders
Protocol HPN-100-005 was the first study of HPN-100 in pediatric subjects with urea cycle disorders (UCDs) and was a fixed-sequence, open-label, switch over study of HPN-100 with a long-term (12 month) safety extension designed…
- Trial name
- NCT00947544
- Testing
- HPN-100, NaPBA
- Where
- 8 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Amgen
Malignant Neoplasm
Ponatinib for Patients Whose Advanced Solid Tumor Cancer Has Activating Mutations Involving the Following Genes: FGFR1, FGFR2, FGFR3, FGFR4, RET, KIT.
This phase II trial studies how well ponatinib hydrochloride works in treating patients with cancer that has spread to other parts of the body (metastatic), has failed previous treatment (refractory), and has one of several…
- Trial name
- NCT02272998
- Testing
- ponatinib hydrochloride, laboratory biomarker analysis
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Sameek Roychowdhury
Urea Cycle Disorder
Chronic Liver Disease in Urea Cycle Disorders
This is a pilot, cross-sectional study to assess liver stiffness and markers of hepatic injury, function, and fibrosis in patients with urea cycle disorders.
- Trial name
- NCT03721367
- Testing
- Diagnostic Ultrasound
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Baylor College of Medicine
Phenylketonuria
Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
The aim of this pilot study is to determine if there are any changes in brain glucose metabolism in the gray matter of patients with Phenylketonuria (PKU) and whether administration of Sapropterin (KUVAN) therapy can improve such…
- Trial name
- PKU (NCT00986973)
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Children's Hospital of Philadelphia
Phenylketonuria
Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
This is a Phase 3b, multicenter, open-label, randomized, controlled study to evaluate efficacy, safety and population pharmacokinetics of sapropterin dihydrochloride (Kuvan®) in less than 4 year-old infants and children with…
- Trial name
- SPARK (NCT01376908)
- Testing
- Kuvan®, Phenylalanine (Phe)-restricted diet
- Where
- 22 sites in Austria, Belgium and 7 more
- Volunteers
- 56 people
- Sponsor
- BioMarin Pharmaceutical
Urea Cycle Disorder
Manipulating the Gut Microbiome Study
The objective is to determine if acetohydroxamic acid (AHA) can prevent hydrolysis of urea by inhibiting the bacterial urease of gut flora of both healthy control adults as well as adults with urea cycle disorders
- Trial name
- NCT03181828
- Testing
- Acetohydroxamic Acid Oral Tablet, No treatment
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Nicholas Ah Mew
Propionic Acidemia, Methylmalonic Acidemia
Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
Background: Very few drugs exist that treat hyperammonemia, specifically PA and MMA. Diet restrictions and alternate pathway agents are the current primary treatments, but they frequently fail to prohibit brain damage.
- Trial name
- NCT01597440
- Testing
- N-carbamylglutamate, Standard of Care
- Where
- 7 sites in United States
- Volunteers
- 1 people
- Sponsor
- Mendel Tuchman
Phenylketonuria
Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients
This double-blind, placebo-controlled, randomized study is designed to evaluate the safety and therapeutic effects of sapropterin dihydrochloride on neuropsychiatric symptoms in subjects with PKU.
- Trial name
- NCT01114737
- Testing
- Sapropterin dihydrochloride
- Where
- 36 sites in United States, Canada
- Volunteers
- 206 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria (PKU)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
Urea Cycle Disorders
PCORI Urea Cycle Disorder Study
Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain.
- Trial name
- NCT02740153
- Testing
- No Intervention Given
- Where
- United States
- Volunteers
- 187 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Amino Acid Metabolism, Inborn Errors
Ataluren for Nonsense Mutation Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by mutations in the gene for mitochondrial enzyme methylmalonyl-CoA mutase (MCM) or in one of the genes for adenosylcobalamin (AdoCbl).
- Trial name
- NCT01141075
- Testing
- Ataluren
- Where
- 9 sites in Belgium, France and 4 more
- Volunteers
- 11 people
- Sponsor
- PTC Therapeutics
Ornithine Transcarbamylase (OTC) Deficiency
Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency
This is a Phase 1/2, open-label, single arm, multicenter, safety and dose finding study of DTX301 in adults with late-onset OTC deficiency.
- Trial name
- CAPtivate (NCT02991144)
- Testing
- scAAV8OTC, Reactive Corticosteroid Taper Regimen, Prophylactic Corticosteroid Taper Regimen
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 16 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Phenylketonuria
Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria
This is an open-label, non-comparative, Phase 3 study to evaluate the degree, frequency of response and safety of Kuvan® (sapropterin dihydrochloride) in subjects aged 4 to 18 years who have phenylketonuria and with elevated…
- Trial name
- NCT01732471
- Testing
- Kuvan®
- Where
- Germany
- Volunteers
- 90 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Albinism
Trial of L-DOPA as a Treatment to Improve Vision in Albinism
This project will evaluate the effect of two doses of levodopa (L-DOPA) in a randomized, placebo-controlled, double-masked clinical trial to see if vision can be improved in individuals with albinism.
- Trial name
- NCT01176435
- Testing
- Levodopa
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- University of Minnesota
Phenylketonuria
Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU
This multicenter, open label study is designed to evaluate the safety of Kuvan® and its effect on neurocognitive function, blood Phe concentration, and growth in children with PKU who are 0-6 years old.
- Trial name
- PKU-015 (NCT00838435)
- Testing
- sapropterin dihydrochloride
- Where
- 19 sites in United States, Canada
- Volunteers
- 95 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006
The objective of this study is to evaluate the safety of long-term treatment with Phenoptin in subjects with phenylketonuria (PKU) who participated in Phase 3 clinical studies with Phenoptin.
- Trial name
- NCT00332189
- Testing
- sapropterin dihydrochloride
- Where
- 14 sites in United States
- Volunteers
- 111 people
- Sponsor
- BioMarin Pharmaceutical