Clinical trials: Ceroid Lipofuscinosis, Neuronal, 2
CLN2 Disease
A Multicenter, Multi-national Open-label Program to Provide BMN 190 to Patients Diagnosed With CLN2 Disease
To provide access to BMN 190 to patients with CLN2 disease who cannot participate in a clinical trial. To collect additional information on the safety and tolerability of BMN 190 administration in patients with CLN2 disease.
- Trial name
- NCT02963350
- Testing
- BMN190, recombinant human tripeptidyl peptidase-1 (rhTPP1)
- Where
- 5 sites in United States, Germany and 2 more
- Sponsor
- BioMarin Pharmaceutical
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
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
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 CLN5
Gene Therapy Study for Children With CLN5 Batten Disease
This is a prospective, non-randomized, open-label, dose escalation study of a single administration of gene therapy in children who are 3 to 9 years old with Neuronal Ceroid Lipofuscinosis (Batten) Subtype 5 (CLN5) disease.
- Trial name
- CLN5-200 (NCT05228145)
- Testing
- NGN-101
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 6 people
- Sponsor
- Neurogene Inc.
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.
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
Neuronal Ceroid Lipofuscinosis Type 2
A Registrational Study of TTX-381 to Treat Vision Loss in CLN2 Disease
This is a registrational, first-in-human, open-label, dose escalation and expansion study evaluating the safety, tolerability and effectiveness of TTX-381, administered by injection under the retina, for the treatment of eye…
- Trial name
- NCT05791864
- Testing
- TTX-381
- Where
- 2 sites in Germany, United Kingdom
- Volunteers
- 26 people
- Sponsor
- Tern Therapeutics, LLC
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
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
Late-infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
A Retrospective, Natural History Study in Children With CLN2
This is a multi center, retrospective, chart review study to document the evolution of ocular disease progression in pediatric patients with CLN2.
- Trial name
- NCT04480476
- Sponsor
- REGENXBIO Inc.
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
Jansky-Bielschowsky Disease, Batten Disease
A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease
The purpose of this study is to determine whether BMN 190 is safe and effective in the treatment of patients with Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) disease.
- Conditions
- Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease
- Trial name
- NCT01907087
- Testing
- BMN 190
- Where
- 5 sites in United States, Germany and 2 more
- Volunteers
- 24 people
- Sponsor
- BioMarin Pharmaceutical
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
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
Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2
Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
The purpose of this study is to gather information on the possible symptoms that patients with atypical neuronal ceroid lipofuscinosis type 2 (also known as aTPP1 or atypical tripeptidyl peptidase deficiency) have and how they…
- Conditions
- Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2, Spinocerebellar Ataxia, Autosomal Recessive 7
- Trial name
- NCT04098211
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Children's Hospital of Orange County
Neuronal Ceroid Lipofuxinosis Type2 (CLN2)
A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofuxinosis Type 2 (CLN2)
This study is a multicenter, non-drug screening study. Enrollment period is 12 months. There are no IMP to be followed or used in the study.
- Trial name
- ENIGMA (NCT06128226)
- Testing
- Blood Sampling
- Where
- 34 sites in Turkey (Türkiye)
- Volunteers
- 750 people
- Sponsor
- Nadir Hastalıkları Araştırma Derneği
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
Neuronal Ceroid Lipofuscinosis Type 2
Intravitreal ERT to Prevent Retinal Disease Progression in Children With CLN2
This is a phase I/II randomized, masked, clinical trial to determine the safety and efficacy of intravitreal administration of cerliponase alfa.
- Trial name
- NCT05152914
- Testing
- Cerliponase Alfa
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- David L Rogers, MD
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