Clinical trials: Brain Diseases, Metabolic, Inborn
Friedreich Ataxia
Idebenone to Treat Friedreich's Ataxia
This study will determine whether a drug called idebenone is safe and effective in reducing the level of oxidants that are believed to damage the nervous system and hearts in patients with Friedreich's ataxia.
- Trial name
- NCT00229632
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Friedreich Ataxia
Study to Evaluate Multiple Ascending Dose and Multi-Dose of DT-216 in Adult Patients With Friedreich Ataxia
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetic, and pharmacodynamic effects of multiple doses of intravenous DT-216 in adult patients with Friedrich Ataxia.
- Trial name
- NCT05573698
- Testing
- DT-216
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Design Therapeutics, Inc.
Gaucher Disease
Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
This is an observational study intended to generate preliminary data to understand how lysosomal dysfunction can affect the biogenesis of extracellular vesicles, its content and function.
- Trial name
- NCT05843552
- Testing
- no intervention
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Minnesota
PKU, Tyrosinemias
GMP Case Studies of Tolerance, Safety and Acceptability in PKU and TYR
Three new protein substitutes have been developed to help with compliance in PKU and TYR patients, which are powdered protein substitutes, low in Phe and, low in Phe and Tyr respectively, with a mixed balance of glycomacropeptide…
- Trial name
- NCT05062226
- Testing
- PKU/TYR GMP Protein Substitute
- Where
- United Kingdom
- Volunteers
- 45 people
- Sponsor
- Nutricia UK Ltd
Phenylketonuria
Phenylalanine and Its Impact on Cognition
The PICO-Study is a randomized, placebo-controlled, crossover, non-inferiority trial conducted to add evidence to the current European treatment guidelines for adult patients with phenylketonuria.
- Trial name
- PICO (NCT03788343)
- Testing
- Phenylalanine
- Where
- Switzerland
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Phenylketonuria, PAH Deficiency
Long-Term Follow Up Study of Subjects Previously Administered HMI 102
An Open-Label, Long-Term Follow Up Study of Safety and Efficacy in PKU Subjects with PAH Deficiency Previously Administered HMI 102
- Trial name
- NCT04348708
- Testing
- HMI-102
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Homology Medicines, Inc
Fabry Disease
Androgenetic Alopecia in Fabry Disease
The purpose of this study is to assess whether patients with the classic form of Fabry disease have significantly less androgenic alopecia (male pattern baldness).
- Trial name
- NCT01295008
- Where
- United States
- Volunteers
- 107 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
Pompe Disease
Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy
Funding Source- FDA OOPD The purpose of this study is to investigate the safety and efficacy of clenbuterol on motor function in individuals with late-onset Pompe disease (LOPD) who are treated with enzyme replacement therapy…
- Trial name
- NCT01942590
- Testing
- Clenbuterol
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Dwight Koeberl, M.D., Ph.D.
Phenylketonuria
SNAP: Study Nutrients in Adult PKU
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine…
- Trial name
- SNAP (NCT03858101)
- Where
- 4 sites in Belgium, Denmark and 1 more
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Nutricia Research
Mitochondrial Diseases
A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
A long-term extension study to assess the safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) in children with inherited mitochondrial diseases who previously enrolled into study…
- Trial name
- NCT02473445
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 22 people
- Sponsor
- Amgen
Phenylketonurias
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.
- Trial name
- PCU (NCT04433728)
- Where
- France
- Volunteers
- 42 people
- Sponsor
- University Hospital, Lille
Urea Cycle Disorders, Inborn
Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
The investigators will study and compare how effectively sodium phenylbutyrate, sodium benzoate, and a combination of the two, help excrete nitrogen in healthy volunteers.
- Trial name
- BPA/Benzoate (NCT02111200)
- Testing
- Sodium Benzoate, Sodium Phenylbutyrate
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Fabry Disease
Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases
Fabry Disease (FD) is a rare, X-linked lysosomal storage disorder leading to left ventricular hypertrophy, myocardial fibrosis, arrhythmia and heart failure. Cardiac involvement is the leading cause of death in FD.
- Trial name
- FABRY400 (NCT03199001)
- Where
- 4 sites in Australia, United Kingdom
- Volunteers
- 400 people
- Sponsor
- University College, London
Phenylketonuria
A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302
A Phase 3 substudy to evaluate executive function in adults with phenylketonuria who are participating in the phase 3 Study, 165-302. Approximately 100 subjects, aged ≥ 18 to ≤ 70 years old, with PKU will be enrolled.
- Trial name
- PRISM303 (NCT02468570)
- Testing
- Administration of CANTAB and Subject Global Assessment
- Where
- 4 sites in United States
- Volunteers
- 9 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias, Hyperphenylalaninaemia, Type I
Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia
This study centres around a new one-a-day phenylalanine-free protein substitute for phenylketonuria patients. Fifty eligible adults (≥ 16 years) with proven phenylketonuria or hyperphenylalaninemia will be recruited and randomly…
- Trial name
- NCT03167697
- Testing
- Synergy, Routine
- Where
- 6 sites in United Kingdom
- Volunteers
- 14 people
- Sponsor
- Nutricia UK Ltd
Phenylketonurias
Safety and Tolerability of RTX-134 in Adults With Phenylketonuria
This study will evaluate the safety and tolerability of RTX-134 in adult patients with PKU.
- Trial name
- NCT04110496
- Testing
- RTX-134
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Rubius Therapeutics
Cerebral Adrenoleukodystrophy (CALD)
A Study of Participants With Cerebral Adrenoleukodystrophy (CALD) Treated With Elivaldogene Autotemcel
The main aim of this study is to assess and describe the safety outcomes, including newly diagnosed malignancies, of patients with CALD treated with eli-cel in the post-marketing setting (tradename Skysona) and to describe major…
- Trial name
- Stargazer (NCT06224413)
- Testing
- No Intervention
- Where
- 3 sites in United States
- Volunteers
- 120 people
- Sponsor
- Genetix Biotherapeutics Inc.
Pompe Disease, Pompe Disease (Late-onset)
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Trial name
- NCT03694561
- Testing
- Observational
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Duke University
Cerebrovascular Accident
Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients
More than one million people in Europe suffer from a stroke every day. Normally older people have a stroke, but also a significant number of younger people between 18 and 55 years.
- Trial name
- sifap1 (NCT00414583)
- Testing
- No intervention
- Where
- 45 sites in Austria, Belgium and 12 more
- Volunteers
- 5,000 people
- Sponsor
- CENTOGENE GmbH Rostock
Urea Cycle Disorder
Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)
This is a randomized, controlled, open-label parallel arm study to assess the safety, tolerability, pharmacokinetics and ammonia control, of RAVICTI® as compared to Sodium phenylbutyrate (NaPBA) in urea cycle disorder subjects…
- Trial name
- NCT03335488
- Testing
- RAVICTI, NaPBA
- Where
- 11 sites in United States, Italy and 2 more
- Volunteers
- 16 people
- Sponsor
- Amgen
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