Clinical trials: Brain Diseases, Metabolic, Inborn
Niemann-Pick Disease, Type C1
Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1
A prospective, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 3 and older with confirmed diagnosis of Niemann Pick disease type C1 (NPC1).
- Trial name
- TransportNPC (NCT04860960)
- Testing
- Hydroxypropyl-beta-cyclodextrin
- Where
- 35 sites in United States, Argentina and 11 more
- Volunteers
- 94 people
- Sponsor
- Cyclo Therapeutics, Inc.
Gaucher Disease
Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3
Primary Objective: Evaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3.
- Trial name
- NCT06523517
- Testing
- Eliglustat Tartrate Capsules
- Where
- China
- Volunteers
- 5 people
- Sponsor
- Peking Union Medical College Hospital
Gaucher Disease, Type 1
Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00954460
- Testing
- velaglucerase alfa
- Where
- 32 sites in United States
- Sponsor
- Shire
Urea Cycle Disorder, Propionic Aciduria
MyRareDiet A Novel Diet Tracking Tool
The investigators propose to develop and validate MyRareDiet® (MRD) to address an unmet need in the inborn errors of metabolism (IEM) population to assist with dietary management designed to increase adherence and compliance to…
- Conditions
- Urea Cycle Disorder, Propionic Aciduria, Maple Syrup Urine Disease, Methylmalonic Acidemia
- Trial name
- MRD (NCT06664840)
- Testing
- MDR diet assessment, 24 hour recall
- Volunteers
- 60 people
- Sponsor
- Oregon Health and Science University
Phenylketonuria
GenSci144 Tablets Phase I Clinical Trial
This study is a Phase I single ascending dose clinical trial in which healthy adult volunteers were administered single oral doses of GenSci144 tablets at different levels.
- Trial name
- NCT07685210
- Testing
- GenSci144 tablets
- Where
- China
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Changchun GeneScience Pharmaceutical Co., Ltd.
Friedreich Ataxia
A Study to Find Out How BIIB141 (Omaveloxolone) is Processed in the Body and to Learn More About Its Safety in Participants With Friedreich's Ataxia Aged 2 to 15 Years Old
In this study, researchers will learn more about BIIB141, also known as omaveloxolone or SKYCLARYS®. This drug has been approved, or made available for doctors to prescribe, for people with Friedrich's Ataxia (FA) who are at…
- Trial name
- BOLD (NCT06054893)
- Testing
- Omaveloxolone
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Biogen
Parkinson Disease, Diabetes Mellitus, Type 1
Biological Sample Collection for Research and Biobanking
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to study different conditions and diseases by using cells from the body (such as skin or blood cells).
- Conditions
- Parkinson Disease, Diabetes Mellitus, Type 1, Macular Degeneration, ALS
- Trial name
- NCT04270604
- Testing
- Biological sample collection
- Where
- United States
- Volunteers
- 1,279 people, healthy volunteers welcome
- Sponsor
- New York Stem Cell Foundation Research Institute
Gaucher Disease
Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00478647
- Testing
- GA-GCB (velaglucerase alfa)
- Where
- 15 sites in United States, Israel and 3 more
- Volunteers
- 40 people
- Sponsor
- Shire
Gaucher Disease, Type 1, MRI
Retrospective and Prospective Observational Study of MRI Changes in Bone and Visceral Lesions of Patients With Type 1 Gaucher Disease Treated With VPRIV® (Velaglucerase Alfa)
This study with standardized reading MRIs, will provide for the first time objective and quantified data on organomegaly (liver and spleen volumes) as well as bone alteration (Bone Marrow Burden11) of French patients treated with…
- Trial name
- EIROS (NCT03333447)
- Testing
- MRI
- Where
- France
- Volunteers
- 20 people
- Sponsor
- CEN Biotech
Spinocerebellar Ataxia - All Sub-types, Friedreich's Ataxia
Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND)
The objectives of this study are: To validate the inter-rater and intra-rater reliability of a new scale for the assessment of ataxia and neurologic dysfunction (STAND) To assess common constructs and correlation between STAND…
- Trial name
- STAND (NCT02179333)
- Testing
- Ataxia rating scale
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of South Florida
Friedreich Ataxia
Study to Evaluate DT-216 in Adult Patients With Friedreich Ataxia
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetic and pharmacodynamic effects of intravenous DT-216 in adult patients with Friedreich Ataxia.
- Trial name
- NCT05285540
- Testing
- DT-216
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- Design Therapeutics, Inc.
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia
Phenotype, Genotype and Biomarkers 2
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic…
- Conditions
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy
- Trial name
- PGB2 (NCT04875416)
- Where
- 4 sites in United States, South Africa
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- University of Miami
Gaucher Disease Type 1
A Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher Disease
Gaucher disease (GD) is caused by mutations in the GBA1 gene, which leads to a lack or reduction of GCase activity. The consequences of this deficiency are generally attributed to the accumulation of the GCase substrate…
- Trial name
- GD (NCT06818838)
- Testing
- LY-M001
- Where
- 3 sites in China
- Volunteers
- 12 people
- Sponsor
- Lingyi Biotech Co., Ltd.
Pseudohypoparathyroidism, Growth Hormone Deficiency, Dwarfism
Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)
We have recently demonstrated resistance to GHRH leading to GH deficiency in patients with Pseudohypoparathyroidism type Ia (Mantovani et al., J Clin Endocrinol Metab, 2003. 88: 4070-4074).
- Trial name
- NCT00497484
- Testing
- recombinant human somatotropin
- Where
- Italy
- Sponsor
- University of Milan
Fabry Disease
Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study
This is a prospective observational study. All patients will initiate and maintain treatment with agalsidase alfa during the study period.
- Trial name
- NCT07235709
- Where
- South Korea
- Volunteers
- 25 people
- Sponsor
- Yonsei University
Metachromatic Leukodystrophy (MLD)
Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD)
The purpose of this study is to determine the safety of ascending doses of HGT-1110 administered by intrathecal (IT) injection for 38 weeks (20 injections) in children with metachromatic leukodystrophy (MLD).
- Trial name
- IDEAMLD (NCT01510028)
- Testing
- Recombinant human arylsulfatase A
- Where
- 5 sites in Australia, Denmark and 3 more
- Volunteers
- 24 people
- Sponsor
- Shire
Tourette Syndrome
The Pathophysiology of Tourette Syndrome: a Multimodal Study
The purpose of this study is to characterize the functional and anatomical connectivity changes in Tourette syndrome and its relation with iron deficiency.
- Trial name
- PTS (NCT02497807)
- Where
- China
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Phenylketonurias, Hyperphenylalaninaemia
Acceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of Phenylketonuria
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of phenylalanine-free protein substitute tablets for young children with PKU aged of 7 years or older.
- Conditions
- Phenylketonurias, Hyperphenylalaninaemia, Tetrahydrobiopterin Deficiency
- Trial name
- NCT04375592
- Testing
- Phenylalanine-free protein substitute in tablet form (XPhe minis)
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Gaucher Disease, Type 1, Type 1 Gaucher Disease
A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy
This study was conducted to test the safety and tolerability of afegostat tartrate in participants with type 1 Gaucher disease already receiving enzyme replacement therapy.
- Conditions
- Gaucher Disease, Type 1, Type 1 Gaucher Disease, Gaucher Disease
- Trial name
- NCT00433147
- Testing
- Afegostat tartrate
- Where
- 10 sites in United States
- Volunteers
- 30 people
- Sponsor
- Amicus Therapeutics
Gangliosidoses, GM2, Gangliosidosis, GM1
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of GM1 gangliosidosis or GM2…
- Trial name
- NCT07082543
- Testing
- AZ-3102
- Where
- 27 sites in United States, Argentina and 12 more
- Volunteers
- 75 people
- Sponsor
- Azafaros B.V.
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