Clinical trials: Brain Diseases, Metabolic, Inborn
Phenylketonurias
A 16 Week Study Evaluating the Introduction of a GMP Based Protein Substitute in Participants With PKU
This study aims to measure changes in participants' blood phenylalanine (Phe) levels in participants with PKU when switching from a conventional amino acid based protein substitute to a GMP based protein substitute (PKU Sphere)…
- Trial name
- GMP In PKU (NCT03771391)
- Testing
- PKU Sphere
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- Vitaflo International, Ltd
Phenylketonurias
Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria
The primary objective is to evaluate the degree and frequency of response to Phenoptin™ (sapropterin dihydrochloride), as demonstrated by a reduction in blood phenylalanine (Phe) level among subjects with phenylketonuria (PKU)…
- Trial name
- NCT00104260
- Testing
- sapropterin dihydrochloride
- Where
- 13 sites in United States
- Volunteers
- 700 people
- Sponsor
- BioMarin Pharmaceutical
Diabetes, Chronic Kidney Diseases
Benchtop NMR Spectroscopy for Assessment of Clinical Human Pathologies (BRANCH-P STUDY)
This research programme seeks to combine the resources of NHS primary care, with the leading spectroscopic work in low-magnetic fields of the Wilson Group (Nottingham Trent University) to demonstrate the potential for benchtop…
- Conditions
- Diabetes, Chronic Kidney Diseases, Cancer, Bowel Disease
- Trial name
- BRANCH-P (NCT05473325)
- Where
- United Kingdom
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Willows Health
Mild Cognitive Impairment (MCI), Alzheimer Disease (AD)
Biomarkers in Neurodegenerative Diseases
The general purpose of this observational study is to examine biomarkers associated with the pathology of neurodegenerative diseases to potentially develop novel therapeutic approaches.
- Conditions
- Mild Cognitive Impairment (MCI), Alzheimer Disease (AD), Dementia With Lewy Bodies (DLB), Frontotemporal Lobar Degeneration (FTLD)
- Trial name
- NCT04055532
- Testing
- Neuraceq
- Where
- United States
- Sponsor
- University of Minnesota
Phenylketonuria (PKU)
Brain Aging in Phenylketonuria
Background: Historically, the primary goal in managing phenylketonuria (PKU) has been to prevent severe and irreversible intellectual disability, as well as to address nutritional deficiencies that could lead to growth…
- Trial name
- NCT06969209
- Where
- Switzerland
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Friedreich's Ataxia
Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia
The purpose of this study is to examine the effects of EPI-743 on visual function and neurologic function in patients with Friedreich's ataxia.
- Trial name
- NCT01728064
- Testing
- EPI-743 400 mg, EPI-743 200 mg
- Where
- 3 sites in United States
- Volunteers
- 60 people
- Sponsor
- PTC Therapeutics
Phenylketonurias
AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom)
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
- NCT06332807
- Testing
- NGGT002
- Where
- 5 sites in United States
- Volunteers
- 12 people
- Sponsor
- NGGT INC.
Fabry Disease
Registry of Fabry Disease - A Multicenter Observational Study
The purpose of this study is to compile a registry of patients with Fabry disease, an inherited metabolic disorder. In this disease, an enzyme called a-galactosidase A, which normally breaks down a lipid (fatty substance) called…
- Trial name
- NCT00055016
- Where
- 2 sites in United States
- Volunteers
- 100 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Wilson Disease
An Exploratory Study to Evaluate the Tolerability and Safety of MWAV201 in Subjects With Wilson Disease
The primary objective of this study is to evaluate the tolerability and safety of MWAV201 in patients with Wilson disease.
- Trial name
- NCT06663878
- Testing
- MWAV201
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Gaucher Disease
Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)
With the participation of an international consortium of investigators, the investigators will evaluate the validity of a new severity score system called DS3 for adult patients with Gaucher disease.
- Trial name
- NCT01136304
- Testing
- Imiglucerase
- Where
- 2 sites in United States
- Volunteers
- 173 people
- Sponsor
- University Research Foundation for Lysosomal Storage Diseases, Inc.
Gaucher Disease
Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase
This is a multi-center, open-label, switchover trial to assess the safety of taliglucerase alfa in 30 patients with Gaucher disease who are currently being treated with imiglucerase (Cerezyme®) enzyme replacement therapy.
- Trial name
- NCT00712348
- Testing
- Taliglucerase alfa
- Where
- 10 sites in United States, Australia and 4 more
- Volunteers
- 31 people
- Sponsor
- Pfizer
Hypoparathyroidism, Pseudo Hypoparathyroidism
QoL and Cognitive Function in Patients With Hypoparathyroidism
Hypoparathyroidism (HypoPT) is a disease with inadequate production of parathyroid hormone (PTH) from the parathyroid glands leading to hypocalcemia.
- Trial name
- MR-hypoPT (NCT04569604)
- Testing
- MRI scans, Neuro cognitive tests, Questionnaires on Quality of Life
- Where
- Denmark
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Hematological Malignancies
Safety and Efficacy of SMART101 in Adult Patients With Hematological Malignancies After Haploidentical HSCT With Post-transplant Cyclophosphamide
The purpose of this study is to evaluate the safety and the efficacy of SMART101 (Human T Lymphoid Progenitors (HTLP)) injection to accelerate immune reconstitution after haploidentical hematopoietic stem cell transplantation…
- Trial name
- NCT05768035
- Testing
- Allogeneic T cell progenitors, cultured ex-vivo
- Where
- 4 sites in France
- Volunteers
- 40 people
- Sponsor
- Smart Immune SAS
Fabry Disease
Switch Over Study of Biosimilar Agalsidase Beta for Fabry Disease
BIO-AGA-Fase III-001 is a Phase III, prospective, multicenter, open-label, single-group, baseline-controlled, switch over clinical trial to evaluate the efficacy and safety of AGA BETA BS in patients with FD already treated and…
- Trial name
- SMILE (NCT05843916)
- Testing
- Recombinant human alpha galactosidase A (agalsidase beta), Recombinant human alpha-galactosidase A (agalsidase beta)
- Where
- 5 sites in Argentina
- Volunteers
- 20 people
- Sponsor
- Bio Sidus SA
Urea Cycle Disorders
A Clinical Study of Glycerol Phenylbutyrate in Chinese Patients With Urea Cycle Disorders
Urea cycle disorders (UCD) are rare diseases in China, would lead to high mortality and disability, which require long-term management due to the recurrent symptoms.
- Trial name
- NCT06904027
- Testing
- Glycerol phenylbutyrate Oral Liquid
- Where
- 5 sites in China
- Volunteers
- 40 people
- Sponsor
- Tongji Hospital
CBS Deficiency
Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on Homocystinuria
In homocystinuria due to cystathionine beta synthase (CBS) deficiency or classical homocystinuria, decreased blood cysteine levels are observed.
- Trial name
- NCT04015557
- Testing
- Acetaminophen, N-acetylcysteine
- Where
- Brazil
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Hospital de Clinicas de Porto Alegre
Phenylketonuria
Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. The mainstay of treatment is a Phe-restricted diet, which aims to maintain blood Phe concentrations within the recommended range and prevent…
- Trial name
- NCT07728032
- Testing
- Phenylalanine-restricted diet alone, Sapropterin Dihydrochloride, Sepiapterin
- Where
- United Kingdom
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
Maple Syrup Urine Disease
Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD)
Maple Syrup Urine Disease (MSUD) is a disorder of protein metabolism that leads to neurological differences. It is an exciting time where people diagnosed with MSUD are living longer.
- Trial name
- NCT04828863
- Testing
- Neurocognitive testing
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Urea Cycle Disorders, Carbamoyl-Phosphate Synthase I Deficiency
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.
- Trial name
- NCT07667387
- Testing
- LNP.UCD.ABE
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Rebecca Ahrens-Nicklas
Fabry Disease
Migalastat Food Effect Study
A 5-period crossover study to evaluate the effect of meal type and timing on migalastat HCl pharmacokinetics in healthy male and female subjects.
- Trial name
- NCT01489995
- Testing
- A (migalastat), B (migalastat), C (migalastat)
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
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