Clinical trials: Batten Disease
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)
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)
Adrenoleukodystrophy, Batten Disease
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn…
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell
- Trial name
- DUOC-01 (NCT02254863)
- Testing
- DUOC-01
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Joanne Kurtzberg, MD
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
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
MLD, Krabbe Disease
Longitudinal Study of Neurodegenerative Disorders
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the…
- Conditions
- MLD, Krabbe Disease, ALD, MPS I
- Trial name
- NCT03333200
- Testing
- Palliative Care, Hematopoetic Stem Cell Transplantation
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- University of Pittsburgh
Batten Disease, CLN2
Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
The investigators propose a study to assess cognitive and developmental outcomes of patients with CLN2 that are untreated and receiving cerliponase alfa.
- Conditions
- Batten Disease, CLN2, Neuronal Ceroid-Lipofuscinoses
- Trial name
- NCT03862274
- Testing
- CLN2 Treatment
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Jessica Scherr
CLN6, Batten Disease
Long-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer
This is a long-term safety and efficacy study in subjects with CLN6 Batten disease who previously received a single intrathecal administration of AT-GTX-501.
- Trial name
- NCT04273243
- Testing
- AT-GTX-501
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emily de los Reyes
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
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
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
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
ALS, Amyotrophic Lateral Sclerosis
NYSCF Scientific Discovery Biobank
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate diverse disease research using cells from the body (such as skin or blood cells) to make stem cells and other types of cells…
- Conditions
- ALS, Amyotrophic Lateral Sclerosis, Alzheimer Disease, Alzheimer Disease, Early Onset
- Trial name
- NCT06203106
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- New York Stem Cell Foundation Research Institute
Jansky-Bielschowsky Disease, Batten Disease
A Safety, Tolerability, and Efficacy Study of BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease
This Phase 2 open-label, multicenter study will evaluate the safety, tolerability, and efficacy of BMN 190 intracerebroventricular (ICV) administration every other week (qow) for a period of 144 weeks, in patients with CLN2.
- Conditions
- Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease
- Trial name
- NCT02678689
- Testing
- BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1), Intracerebroventricular access device
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 14 people
- Sponsor
- BioMarin Pharmaceutical
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Human Placental-Derived Stem Cell Transplantation
The purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Adrenoleukodystrophy, Niemann-Pick Disease
- Trial name
- HPDSC (NCT01586455)
- Testing
- Human Placental Derived Stem Cell
- Where
- 3 sites in United States
- Volunteers
- 43 people
- Sponsor
- New York Medical College
Jansky-Bielschowsky Disease, Batten Disease
An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease
The Phase 1/2 study (190-201) evaluated the efficacy and safety of a 300 mg dose of BMN 190 administered every other week (qow) to patients with CLN2.
- Conditions
- Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease
- Trial name
- NCT02485899
- Testing
- BMN 190, Intracerebroventricular (ICV) access device
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 23 people
- Sponsor
- BioMarin Pharmaceutical
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
Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis
Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)
This is a proposed follow up study on the investigators previous gene transfer human clinical trial entitled "Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to…
- Trial name
- NCT01161576
- Testing
- AAVrh.10CUhCLN2 vector 9.0x10^11 genome copies, AAVrh.10CUhCLN2 vector 2.85x10^11 genome copies
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Weill Medical College of Cornell University
Late Infantile Neuronal Ceroid Lipofuscinosis, Batten Disease
AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis
The investigators propose to assess the safety and efficacy of a new administration method to deliver a biologic to children with a form of Batten disease using an experimental gene transfer procedure.
- Trial name
- NCT01414985
- Testing
- AAVrh.10CUCLN2
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Weill Medical College of Cornell University