Clinical trials: Canavan Disease
Canavan Disease, Infantile
Lithium and Acetate for Canavan Disease
The aim of this study is to determine whether oral supplementation with lithium and acetate may improve the biological and clinical prognosis in patients with Canavan Disease.
- Conditions
- Canavan Disease, Infantile, Deficiency Disease, Aspartoacylase
- Trial name
- NCT00657748
- Testing
- Lithium Gluconate (drug) Glyceryl Triacetate GTA (drug)
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Canavan Disease
A Natural History Study of Canavan Disease
The purpose of this study is to learn more about the natural history of Canavan disease
- Trial name
- NCT02851563
- Where
- 3 sites in United States, Germany
- Volunteers
- 21 people
- Sponsor
- NYU Langone Health
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Canavan Disease
A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
The main objective of this trial is to evaluate the safety, tolerability, and pharmacodynamic activity of BBP-812, an investigational AAV9-based gene therapy, in pediatric participants with Canavan disease.
- Trial name
- NCT04998396
- Testing
- AAV9 BBP-812
- Where
- 4 sites in United States
- Volunteers
- 26 people
- Sponsor
- Aspa Therapeutics
Canavan Disease
Natural History Study of Patients With Canavan Disease (CANinform Study)
This study uses medical records that allow retrospective data extraction of critical milestone and motor function data. In addition, prospective assessments collect data relevant to the natural history of Canavan disease in…
- Trial name
- NCT04126005
- Where
- 3 sites in United States, Germany
- Volunteers
- 67 people
- Sponsor
- Aspa Therapeutics
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Canavan Disease
Oral Glyceryl Triacetate (GTA) in Newborns With Canavan
Canavan disease is caused by Aspartoacylase deficiency. There is no treatment for the disease, but there is a food additive that includes acetate .
- Trial name
- NCT00724802
- Testing
- GTA (Glyceryl triacetate), GTA glyceryl triacetate
- Where
- Israel
- Volunteers
- 1 people
- Sponsor
- Shaare Zedek Medical Center
Canavan Disease
Canavan-Single Patient IND
A recombinant virus vector constructed from adeno-associated virus (AAV) has been engineered to carry the human aspartoacylase (ASPA) gene expressed from a modified CMV-enhancer chicken β-actin (CB6) promoter.
- Trial name
- NCT05317780
- Testing
- rAAV9-CB6-AspA
- Where
- United States
- Sponsor
- University of Florida
Tay Sachs Disease, Canavan Disease
Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.
The investigators have developed a new website to educate persons of Ashkenazi Jewish ancestry about their increased risk for having children with certain genetic conditions, and the genetic testing the investigators offer.
- Conditions
- Tay Sachs Disease, Canavan Disease, Familial Dysautonomia
- Trial name
- NCT01999257
- Testing
- Online pre-test genetic education tool
- Where
- Canada
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Canavan Disease
rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease
Canavan Disease is a congenital white matter disorder caused by mutations to the gene encoding for aspartoacylase (ASPA). Expression of ASPA is restricted to oligodendrocytes, the sole white matter producing lineage in the brain.
- Trial name
- CAN-GT (NCT04833907)
- Testing
- rAAV-Olig001-ASPA, Levetiracetam, Prednisone
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Myrtelle Inc.
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
Infantile Canavan Disease, Deficiency Disease, Aspartoacylase
GTA-Glyceryltriacetate for Canavan Disease
The purpose of this study is to determine whether oral supplementation of glyceryl triacetate improves the clinical prognosis of Canavan Disease.
- Trial name
- NCT00278707
- Testing
- GTA: Glyceryltriacetate
- Where
- Israel
- Volunteers
- 5 people
- Sponsor
- Sheba Medical Center