Clinical trials: Juvenile Neuronal Ceroid Lipofuscinosis, active
Neuronal Ceroid Lipofuscinosis, Batten Disease
Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database. 1.
- Conditions
- Neuronal Ceroid Lipofuscinosis, Batten Disease, CLN1 Disease, CLN2 Disease
- Trial name
- NCT04613089
- Testing
- Natural History
- Where
- Germany
- Volunteers
- 500 people
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Lysosomal Storage Disorders, Sandhoff Disease
Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)
The purpose of this study is to evaluate the safety, tolerability and clinical activity of PLX-200 in pediatric patients with lysosomal storage disorders.
- Conditions
- Lysosomal Storage Disorders, Sandhoff Disease, Krabbe Disease, CLN2
- Trial name
- NCT07740512
- Testing
- PLX-200
- Volunteers
- 24 people
- Sponsor
- Polaryx Therapeutics, Inc.
CLN7
Study for the Treatment for CLN7 Disease
This is a phase 1 open-label, single-administration of gene therapy agent AAV9/CLN7, administered intrathecally into the lumbar spinal cord region of pediatric patients with CLN7 Batten disease.
- Trial name
- CLN7 (NCT04737460)
- Testing
- AAV9/CLN7
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Benjamin Greenberg
Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
Cerliponase Alfa Observational Study in the US
This is a multicenter, observational study for patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), also known as TPP1 deficiency, who intend to be or are currently being treated with…
- Trial name
- NCT04476862
- Testing
- Cerliponase Alfa, Administration Kit
- Where
- 16 sites in United States
- Volunteers
- 35 people
- Sponsor
- BioMarin Pharmaceutical
Batten Disease, CLN6
Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia.
- Trial name
- Batten'sCLN6 (NCT03285425)
- Testing
- Natural history
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Emily de los Reyes
CLN3, Batten Disease
Gene Therapy for Children With CLN3 Batten Disease
This is a phase 1/2, open-label, single dose, dose-escalation clinical trial to evaluate the safety and efficacy of CLN-301 (previous NCH Code: scAAV9.P546.CLN3) delivered intrathecally into the lumbar spinal cord region of…
- Trial name
- NCT03770572
- Testing
- Low dose CLN-301, High dose CLN-301
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Neela Therapeutics
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
CLN3
Study With Batten-1 (Miglustat Liquid Formulation) to Treat Ceroid Lipofuscinosis Neuronal 3 (CLN3) Disease
The goal of this open-label, single-arm, multicenter study is to assess the efficacy and safety of Batten-1 (oral liquid formulation of miglustat) (15 mg/kg up to 600 mg/day) in approximately 27 pediatric subjects with CLN3…
- Trial name
- NCT07882290
- Testing
- Miglustat oral liquid formulation (250 mg/mL)
- Where
- 10 sites in United States, Denmark and 6 more
- Volunteers
- 27 people
- Sponsor
- Beyond Batten Disease Foundation
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
CLN6, Batten Disease
Gene Therapy Trial for CLN6 Batten Disease
The goal of this clinical trial is to learn if a gene therapy called scAAV9.CB.CLN6 can treat children with CLN6 Batten disease (variant late infantile neuronal ceroid lipofuscinosis).
- Conditions
- CLN6, Batten Disease, Batten's Disease, Neuronal Ceroid Lipofuscinosis CLN6
- Trial name
- NCT07582484
- Testing
- scAAV9.CB.CLN6 (dose: 1.5E14 vector genomes)
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- The Charlotte and Gwenyth Gray Foundation
Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1
Clinical and Neuropsychological Investigations in Batten Disease
This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease.
- Conditions
- Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1, Neuronal Ceroid Lipofuscinosis CLN2, Neuronal Ceroid Lipofuscinosis CLN3
- Trial name
- NCT01873924
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- University of Rochester
Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Background: CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age.
- Trial name
- NCT03307304
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)