Clinical trials: Brain Diseases, Metabolic, Inborn
Friedreich's Ataxia
Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia
The purpose of this study is to determine if varenicline is effective in treating symptoms of Friedreich's ataxia.
- Trial name
- NCT00803868
- Testing
- varenicline
- Where
- 2 sites in United States
- Volunteers
- 28 people
- Sponsor
- University of South Florida
Wilson Disease
Copper Concentration & Histopathologic Changes in Liver Biopsy in Participants With Wilson Disease Treated With ALXN1840
The main objective of the study is to evaluate the change in liver copper (Cu) concentration following 48 weeks of treatment with ALXN1840 in adult participants with Wilson Disease (WD) who have been previously treated for at…
- Trial name
- NCT04422431
- Testing
- Bis-Choline Tetrathiomolybdate
- Where
- 12 sites in United States, Canada and 6 more
- Volunteers
- 31 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Gaucher Disease
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different…
- Trial name
- NCT00351156
- Testing
- Blood sample
- Where
- 7 sites in United States
- Volunteers
- 50 people
- Sponsor
- Amicus Therapeutics
GM1 Gangliosidosis
Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients
Owing to the rarity, severity, speed of progression and fatal prognosis of infantile and juvenile GM1, there is a limited understanding of overall disease progression and meaningful outcome measures.
- Trial name
- NCT04041102
- Where
- 6 sites in United States, Brazil and 3 more
- Volunteers
- 31 people
- Sponsor
- University of Pennsylvania
Phenylketonuria
Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
The purpose of this study is to determine whether tetrahydrobiopterin (BH4)is effective in treating patients with PKU.
- Trial name
- NCT00244218
- Testing
- tetrahydrobiopterin (BH4)
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- The University of Texas Medical Branch, Galveston
Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
Translational Potential of ex Vivo Gene Therapy in GM2 Gangliosidosis
The project aims to optimize and validate this new therapeutic strategy using cells from GM2 patients to evaluate the cross-correction of neurons in vitro by the culture medium of genetically modified myeloid cell lines.
- Trial name
- GM2-TGEX (NCT07445490)
- Testing
- blood sample
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fabry Disease
Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease
The main goals of this clinical study are to characterize safety and PK/PD of AMT-191 i.e. if drug doses used in the study are safe and tolerable and to understand how it acts in the body of people with Fabry disease.
- Trial name
- NCT06270316
- Testing
- AMT-191
- Where
- 10 sites in United States
- Volunteers
- 20 people
- Sponsor
- UniQure Biopharma B.V.
Urea Cycle Disorders, Crigler Najjar Syndrome
Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001)
The purpose of this study is to assess the long-term safety follow-up of patients having been treated with HepaStem.
- Trial name
- NCT02051049
- Where
- Belgium
- Volunteers
- 9 people
- Sponsor
- Cellaion SA
Infantile GM2 Gangliosidosis (Disorder)
First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis
GM2 gangliosidoses are a group of autosomal recessive neurodegenerative diseases characterized by a deficiency of the Hex A enzyme to catabolize GM2, thereby causing GM2 accumulation within cellular lysosomes.Hex A is composed of…
- Trial name
- NCT04798235
- Testing
- TSHA-101
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Dr. Anupam Sehgal
Urea Cycle Disorder, Organic Acidemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and…
- Conditions
- Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I
- Trial name
- NCT04602325
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's National Research Institute
Macular Degeneration
Scotoma Reduction in AMD Patients Treated With Ranibizumab
This is a trial aimed at patients with advanced wet macular degeneration and macular scarring treated wiht intravitreal injections of Lucentis.
- Trial name
- SALVAGE (NCT00467935)
- Testing
- intravitreal injection Lucentis (ranibizumab)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Retina Research Foundation
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
Lysosomal Diseases, Gangliosidosis
A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis
Background: GM1 gangliosidosis is a disorder that destroys nerve cells. It is fatal. There is no treatment. People with GM1 are deficient in a certain enzyme. A gene therapy may help the body make this enzyme.
- Conditions
- Lysosomal Diseases, Gangliosidosis, GM1
- Trial name
- NCT03952637
- Testing
- AAV9-GLB1, Abdominal ultrasound, Rituximab
- Where
- United States
- Volunteers
- 54 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Inherited Metabolic Disorders IMD
Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)
This study is designed to assess the safety and exploratory efficacy of using HSC835 in patients with Inherited Metabolic Disorders (IMD) undergoing stem cell transplantation.
- Trial name
- NCT02715505
- Testing
- Umbilical cord blood transplantation with HSC835
- Sponsor
- Novartis Pharmaceuticals
Age-Related Macular Degeneration, Allergies
Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives
To collect, preserve, and/or distribute annotated biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and…
- Conditions
- Age-Related Macular Degeneration, Allergies, Alpha-Gal Syndrome, Alzheimer Disease
- Trial name
- NCT05635266
- Testing
- Specimen sample
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
Asmd, Visceral Type
Biomarkers Of Lung InVolvement In ASMD
The goal of this study is to characterize ASMD patients' breath profile, exhaled breath and condensate as compared to healthy controls to identify specific volatile and non-volatile compounds that reflect inflammatory processes…
- Trial name
- BOLIVIA (NCT05914727)
- Testing
- eNose, Volatile exhaled breath sample, Condensate sample
- Where
- Netherlands
- Volunteers
- 68 people, healthy volunteers welcome
- Sponsor
- Eline C. B. Eskes
Inherited Mitochondrial Disease, Including Leigh Syndrome
Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease
To evaluate safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) administered at a target maintenance dose of 1.3 g/m²/day in two divided doses, every 12 hours, for up to 6 months in…
- Trial name
- MITO-001 (NCT02023866)
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- Amgen
Kinky Hair Syndrome
Copper Histidine Therapy for Menkes Diseases
Menkes Disease is a genetic disorder affecting the metabolism of copper. Patient with this disease are both physically and mentally retarded. Menkes disease is usually first detected in the first 2-3 months of life.
- Trial name
- NCT00001262
- Testing
- Copper Histidine
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fabry Disease
Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease
This study will evaluate safety and clinical outcomes of treatment with Replagal in adult participants with Fabry disease who have completed Study TKT028 (NCT00864851).
- Trial name
- NCT01124643
- Testing
- Replagal
- Where
- 9 sites in United States, Australia and 5 more
- Volunteers
- 35 people
- Sponsor
- Shire
Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II)
Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
Hypothesis: Children diagnosed with a lysosomal disease will exhibit developmental, adaptive, and behavioral strengths and difficulties depending upon 1) biomedical risk factors (i.e.
- Conditions
- Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II), Mucopolysaccharidosis Type III (MPS III), Mucopolysaccharidosis Type VI (MPS VI)
- Trial name
- NCT01938014
- Where
- 3 sites in United States
- Volunteers
- 19 people
- Sponsor
- University of Chicago
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