Trials Sponsors Conditions Drugs Pricing

Conditions

Ceroid Lipofuscinosis, Neuronal 5

Keywords

CLNNCLBatten

Outcome Measures

Primary Outcomes (2)

Unified Batten Disease Rating Scale (UBDRS)
Disease-specific clinical assessment used to assess physical, seizure, behavioral and functional capabilities. For physical assessments scores range from 0 to 4 with the score of 4 being most severe.
3 years
Late Infantile Neuronal Ceroid Lipofuscinosis Rating Scale (Hamburg Scale)
Disease specific tool used to capture 4 domains including motor function, seizures, visual function and language. Each sub-scale can be scored from 0-3 points in which 0 represents loss of function.
3 years

Secondary Outcomes (3)

Electroencephalography (EEG)
3 years
Vineland Adaptive Behavior Scale, 2nd Edition (Vineland-II)
3 years
Caregiver Global Impression of Change (CaGI-C)
3 years

Study Arms (2)

Prospective

Subjects who meet eligibility criteria and enroll in the prospective arm will be assessed every 6 months ± 4 weeks for a period of up to 3 years, according to the Schedule of Assessments. Subjects in the Prospective arm may also participate in the Retrospective arm.

Retrospective

Upon confirmation of eligibility criteria, the site will obtain an Informed Consent/Assent form and release of medical records from the subject/legally authorized representative to allow review of the medical records from the subject's primary care physician and/or specialists to confirm the CLN5 diagnosis and disease course. To facilitate collection of the medical records, a caregiver interview will be completed at initial enrollment then once yearly for up to 3 years.

Eligibility Criteria

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

Patients with a confirmed genetic diagnosis of CLN5.

You may qualify if:

Age at disease onset of ≤ 5 years of age.

Sponsors & Collaborators

Neurogene Inc.
Industrylead

Study Sites (1)

University of Rochester Medical Center

Rochester, New York, 14642, United States

Biospecimen

Retention: SAMPLES WITH DNA

whole blood

MeSH Terms

Conditions

Ceroid lipofuscinosis, neuronal 5

Study Officials

Elise Beausoleil
Neurogene Inc.
STUDY DIRECTOR

Enrollment

37 participants (actual enrollment reported by the registry).

Study Design

Study Type: observational
Observational Model: COHORT
Time Perspective: OTHER
Sponsor Type: INDUSTRY
Responsible Party: SPONSOR

Study Record Dates

First Submitted

January 27, 2019

First Posted

January 30, 2019

Study Start

March 13, 2019

Actual (reported)

A Natural History Study of Neuronal Ceroid Lipofuscinosis Type 5 (CLN5)

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (2)

Secondary Outcomes (3)

Study Arms (2)

Prospective

Retrospective

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (2)

Secondary Outcomes (3)

Study Arms (2)

Prospective

Retrospective

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations