Clinical trials: Brain Diseases, Metabolic, Inborn
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
Gaucher Disease, Type 1
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)
This Phase 3 study was designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had reached therapeutic goals with enzyme replacement therapy (ERT).
- Trial name
- ENCORE (NCT00943111)
- Testing
- Eliglustat tartrate, Imiglucerase
- Where
- 34 sites in United States, Argentina and 10 more
- Volunteers
- 160 people
- Sponsor
- Genzyme, a Sanofi Company
Inherited Metabolic Disorders (IMD)
MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT)
This study is designed to assess the safety and efficacy of using MGTA-456 in patients with Inherited Metabolic Disorders (IMD) undergoing stem cell transplantation.
- Trial name
- NCT03406962
- Testing
- MGTA-456
- Where
- 2 sites in United States
- Volunteers
- 8 people
- Sponsor
- Magenta Therapeutics, Inc.
Wilson Disease
Efficacy and Safety Study of WTX101 (ALXN1840) in Adult Wilson Disease Patients
The main purpose of the study was to evaluate the efficacy of ALXN1840 (formerly WTX101) for 24 weeks on non-ceruloplasmin-bound copper (NCC) concentrations adjusted for molybdenum plasma concentration in participants newly…
- Trial name
- NCT02273596
- Testing
- ALXN1840
- Where
- 9 sites in United States, Austria and 3 more
- Volunteers
- 29 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Friedreich Ataxia
Interferon Gamma-1b in Friedreich Ataxia (FRDA)
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy.
- Trial name
- NCT01965327
- Testing
- Interferon Gamma-1b
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Children's Hospital of Philadelphia
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
Fabry Disease
A 24-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease
Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease.
- Trial name
- NCT00283933
- Testing
- migalastat HCl
- Where
- 2 sites in France, United Kingdom
- Volunteers
- 5 people
- Sponsor
- Amicus Therapeutics
Hereditary Spastic Paraplegia, Adrenomyeloneuropathy
Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy
Hereditary spastic paraplegia (HSP) is the group of inherited disorders, characterized by progressive gait disturbance. There is no established therapy. Adrenoleukodystrophy (AMN) is an x-linked hereditary disease.
- Trial name
- NCT03627416
- Testing
- rTMS
- Where
- Poland
- Volunteers
- 15 people
- Sponsor
- Jakub Antczak
Pompe Disease
Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease
A Phase 1/2, open-label, multicenter, multiple dose escalation study of BMN 701 administered by intravenous infusion every 2 weeks over a 24-week treatment period to patients with late-onset Pompe disease.
- Trial name
- NCT01230801
- Testing
- BMN 701
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 22 people
- Sponsor
- BioMarin Pharmaceutical
Wilson's Disease
A Phase I/II Study of VTX-801 in Adult Patients With Wilson's Disease
The objectives of this clinical trial are to assess, for up to 5 years, the safety, tolerability and pharmacological activity of a single ascending doses of VTX-801, a gene therapy, administered intravenously (IV) to adult…
- Trial name
- GATEWAY (NCT04537377)
- Testing
- VTX-801
- Where
- 10 sites in United States, Denmark and 2 more
- Volunteers
- 4 people
- Sponsor
- Vivet Therapeutics SAS
Pompe Disease
First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
This is an international, multi-center, open-label study designed to evaluate if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.
- Trial name
- NCT02675465
- Testing
- ATB200, AT2221
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 29 people
- Sponsor
- Amicus Therapeutics
Classic Galactosemia
Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia
This study is a first-in-human, randomized, placebo-controlled, 4-Part, single ascending dose (SAD) and multiple ascending dose (MAD) study in healthy adult subjects and adult subjects with Classic Galactosemia.
- Trial name
- NCT04117711
- Testing
- AT-007
- Where
- 4 sites in United States
- Volunteers
- 114 people, healthy volunteers welcome
- Sponsor
- Applied Therapeutics, Inc.
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
Fabry Disease
Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function
This was a randomized, double-blind, active control study of the enzyme replacement therapy (ERT) drug PRX-102 (pegunigalsidase alfa) in Fabry disease patients with impaired renal function.
- Trial name
- BALANCE (NCT02795676)
- Testing
- PRX-102 (pegunigalsidase alfa), agalsidase beta
- Where
- 29 sites in United States, Czechia and 10 more
- Volunteers
- 78 people
- Sponsor
- Protalix
Ataxia Telangiectasia, Genetic Syndrome
Extension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study
Primary Objective To monitor and evaluate the long-term safety and tolerability of EDS-EP in AT patients. Secondary Objective To evaluate the long-term effect of EDS-EP on health-related Quality of Life (QoL; EQ-5D-5L scale).
- Trial name
- OLE-IEDAT (NCT03563053)
- Testing
- EryDex System
- Where
- 17 sites in United States, Australia and 9 more
- Volunteers
- 104 people
- Sponsor
- Quince Therapeutics S.p.A.
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
Fabry Disease
A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease
This is a multi-center, open label, phase IV study conducted to evaluate the efficacy and safety of agalsidase beta (Fabrazyme [recombinant form]) administered by intravenous drip infusion in participants with cardiac Fabry…
- Trial name
- NCT00140621
- Testing
- Agalsidase beta
- Where
- 7 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Genzyme, a Sanofi Company
Amyloidosis, Amyloid Cardiomyopathy
Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
Phase 3 efficacy and safety study to evaluate acoramidis (AG10) HCl 800 mg administered orally twice a day compared to placebo in subjects with symptomatic Transthyretin Amyloid Cardiomyopathy (ATTR-CM).
- Conditions
- Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis, Cardiomyopathies
- Trial name
- ATTRibute-CM (NCT03860935)
- Testing
- acoramidis
- Where
- 104 sites in United States, Australia and 16 more
- Volunteers
- 632 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Cerebral Adrenoleukodystrophy (CALD)
A Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
The purpose of this study is to evaluate the efficacy and safety of Lenti-D Drug Product (also known as elivaldogene autotemcel or Skysona, hereafter referred to as eli-cel) after myeloablative conditioning with busulfan and…
- Trial name
- NCT03852498
- Testing
- Lenti-D
- Where
- 8 sites in United States, France and 4 more
- Volunteers
- 35 people
- Sponsor
- Genetix Biotherapeutics Inc.
Lysosomal Acid Lipase Deficiency, Wolman Disease
Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, intra-participant dose-escalation study of SBC-102 (sebelipase alfa) in children with growth failure due to lysosomal acid lipase (LAL) Deficiency.
- Trial name
- NCT01371825
- Testing
- Sebelipase alfa (SBC-102)
- Where
- 7 sites in United States, Egypt and 3 more
- Volunteers
- 9 people
- Sponsor
- Alexion Pharmaceuticals, Inc.