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A diagnostic confidence scheme for CLN3 disease.

Margaux C Masten¹, Camille Corre¹, Alex R Paciorkowski¹

¹Department of Neurology, University of Rochester, Rochester, New York, USA.

Journal of Inherited Metabolic Disease

|August 28, 2021

Summary

Researchers developed a reliable diagnostic confidence scheme for CLN3 disease, classifying individuals into Definite, Probable, or Possible categories. This scheme aids research in CLN3 and other rare genetic neurodegenerative disorders.

Keywords:

Batten disease diagnosis lysosomal disorders natural history neurodegenerative disease neuronal ceroid lipofuscinosis

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Area of Science:

Genetics
Neurology
Rare Diseases

Background:

Diagnostic certainty in genetic diseases has evolved over 20 years.
Natural history studies require consistent diagnostic criteria for participants.
CLN3 disease diagnosis can be challenging due to variable presentation.

Purpose of the Study:

To develop a hierarchical diagnostic confidence scheme for CLN3 disease.
To improve diagnostic certainty for individuals in natural history studies.
To establish a reliable classification system for CLN3 disease research.

Main Methods:

Utilized genotype and phenotype data from an ongoing CLN3 disease natural history study.
Developed a three-class hierarchical scheme: Definite, Probable, Possible CLN3 disease.
Included a CLN3 Disease PLUS category for co-occurring disorders; assessed reliability via blinded reclassification.

Main Results:

Classified 134 individuals: 100 Definite, 21 Probable, 7 Possible CLN3 disease.
Six individuals were classified as CLN3-PLUS.
Phenotypes varied, including classical, vision-only, and atypical presentations; test-retest reliability was 96%.

Conclusions:

A reliable diagnostic confidence scheme for CLN3 disease was created with excellent face validity.
This scheme enhances clinical research for CLN3 disease and similar rare neurodegenerative disorders.
The scheme provides a standardized approach for classifying CLN3 disease diagnoses.