Clinical trials: Juvenile Neuronal Ceroid Lipofuscinosis
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)
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
CLN3-related Disorders, Non-CLN3 Related Low Vision
Optic-to-Audio Device in a Pediatric Cohort With CLN3-related Conditions or Low Vision
Background: CLN3 involves vision loss observed around the preschool years, with eventual progression to blindness within 1-3 years.
- Trial name
- NCT04974307
- Testing
- OrCam MyEye 2
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Neuronal Ceroid Lipofuscinosis
Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis
The purpose of this Phase Ib study is to determine if "Human Central Nervous System Stem Cells"(HuCNS-SC) is safe to be transplanted in subjects with infantile and late infantile neuronal ceroid lipofuscinosis.
- Trial name
- NCT01238315
- Testing
- HuCNS-SC
- Where
- United States
- Sponsor
- StemCells, 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
Juvenile Neuronal Ceroid Lipofuscinosis
Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3
The purpose of this study is to evaluate the safety and efficacy of multiple doses of PLX-200 in patients with CLN3 disease.
- Trial name
- NCT04637282
- Testing
- PLX-200
- Sponsor
- Polaryx Therapeutics, Inc.
Juvenile Neuronal Ceroid Lipofuscinosis
Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis
The primary objective of this trial is to establish the safety and tolerability of short-term (8 weeks) administration of mycophenolate mofetil in ambulatory children with JNCL.
- Trial name
- JUMP (NCT01399047)
- Testing
- Mycophenolate mofetil
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- University of Rochester
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
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
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
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.
Neuronal Ceroid Lipofuscinosis, Batten's Disease
Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
Neuronal Ceroid Lipofuscinosis (NCL) also known at Batten's disease is the most common neurodegenerative disorder in children. Families often report the patient has a sleep disturbance.
- Trial name
- NCT01966757
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Nationwide Children's Hospital
Neuronal Ceroid-Lipofuscinoses
Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses
Neuronal Ceroid Lipofuscinoses (NCL) or Batten's disease are the most common juvenile neurodegenerative disease, characterized by early blindness, movement disorders, cognitive and behavioral impairment, epilepsy, and…
- Trial name
- 3AL-CLN36 (NCT04808297)
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- IRCCS Fondazione Stella Maris
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)
Batten Disease
An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of Subjects With Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) Disease
This is an open label study in approximately 6 subjects in 2 centers to assess the safety, PK, and efficacy of the maximum tolerable dose (MTD) of oral miglustat (100 mg once daily [QD] to 200 mg 3 times daily [TID]) in subjects…
- Trial name
- NCT05174039
- Testing
- Miglustat 100 milligrams (mg) Oral Capsule
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Beyond Batten Disease Foundation
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
Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6
Natural History Study of Batten Disease
This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities…
- Conditions
- Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN3
- Trial name
- NCT04644549
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emily de los Reyes
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
Cancer, Cardiac Anomaly
Using NPT to Evaluate Providing PPC as ELNEC-PPC WBT for Nurses
The purpose of this study is to explain the provision of palliative care at the end of life by the implementation of the ELNEC course, as WBT Program using the Normalization Process Theory, that focus attention on how complex…
- Conditions
- Cancer, Cardiac Anomaly, Cystic Fibrosis, Muscular Dystrophy
- Trial name
- ELNEC-PPC (NCT04461561)
- Testing
- end-of-life nursing education consortium-pediatric palliative care as web based-training plus usual care
- Where
- Iraq
- Volunteers
- 172 people, healthy volunteers welcome
- Sponsor
- Altoosi University College
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