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A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
OnsetCHILDHOOD, JUVENILE
Clinical Trials11 registered · 5 recruiting
Clinical Presentation
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
No HPO annotations are available for this condition.
Age of onset: childhood, adolescence.
GeneReviews
Clinical Guidance
KCTD7-related progressive myoclonic epilepsy (KCTD7-PME) is a rare autosomal recessive disorder that manifests with early-onset multifocal fragmentary myoclonus often associated with seizures and progressive neurologic deterioration . Myoclonus may be spontaneous or induced by action or posture . Reported seizure types include generalized tonic-clonic, generalized atypical absence, generalized atonic, generalized tonic, generalized myoclonic-atonic, generalized with eyelid myoclonus, clonic, focal, febrile, and epileptic spasms . Progressive neurologic deterioration includes regression of developmental milestones, ataxia, and other movement disorders. Though early development may be normal in about one third of individuals, regression of milestones occurs in all followed by stabilization or progressive deterioration . To date, at least 95 individuals have been reported with biallelic pathogenic variants in KCTD7 . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. KCTD7-Related Progressive Myoclonic Epilepsy: Frequency of Select Features
Diagnosis
Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.
GeneReviews
Diagnostic Criteria
No consensus clinical diagnostic criteria for KCTD7-related progressive myoclonic epilepsy (KCTD7-PME) have been published to date.
Suggestive Findings
KCTD7-PME should be suspected/considered in probands with the following clinical, electroencephalographic, and neuroimaging findings and family history.
Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.
No approved treatments are currently available for neuronal ceroid lipofuscinosis. The disease remains an area of unmet medical need.
Gene therapy approaches for neuronal ceroid lipofuscinosis have been reported in the published literature.
GeneReviews
Management Guidelines
No clinical practice guidelines for KCTD7-related progressive myoclonic epilepsy (KCTD7-PME) have been published. In the absence of established guidelines, the following recommendations are based on the authors' personal experience in managing individuals with this disorder.
Prognosis
Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.
GeneReviews
Surveillance Guidelines
To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
11 clinical trials registered, 5 recruiting. Interventions under study include other interventions, drug therapy, gene therapy, and medical devices. Pipeline includes 1 PHASE3, 4 PHASE1. Research is sponsored by a mix of industry and academic institutions.
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
Biomarker and diagnostic research for neuronal ceroid lipofuscinosis has been reported in the published literature.
Evaluations Following Initial Diagnosis
To assess the disease extent and needs of an individual with KCTD7-PME, perform the evaluations summarized (if not performed already as part of the evaluation that led to the diagnosis).
Table 5.
KCTD7-Related Progressive Myoclonic Epilepsy: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Constitutional
| Assess weight, height head size. |
Neurologic
| Neurologic eval | • Brain MRI
Consider EEG.
Ataxia /or musculoskeletal
| Orthopedics/ physical medicine rehab/ PT OT eval | To incl assessment of:
Gross motor fine motor skills
Mobility, ADL, need for adaptive devices
Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)
Speech language
| Assessment of speech language | Speech therapy as indicated
Development
| Developmental assessment | • To include motor, adaptive, cognitive, speech-language eval
Evaluate for early intervention/ special education
Neurobehavioral/
Psychiatric
| Neuropsychiatric eval | For persons age 12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD
Gastrointestinal/
Feeding
| Gastroenterology/ nutrition/ feeding team eval | • To include eval of aspirati...
| Assess for anxiety, ADHD, ASD, aggression, self-injury.
Musculoskeletal
| Physical medicine OT/PT assessment of mobility self-help skills
Ophthalmologic involvement
| Monitor visual acuity, refractive errors, optic atrophy, strabismus, other abnormal eye movements. | Per treating ophthalmologist(s)
Low vision services | Per treating clinicians
Family/Community
| Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning). | At each visit
A First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Gene Therapy With TTX-381 for the Ocular Manifestations Associated With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease
Clinical and Neuropsychological Investigations in Batten Disease
—
University of Rochester
RECRUITING
195 publications have been identified in PubMed for neuronal ceroid lipofuscinosis. Kisho has analyzed 70 by research type. Research spans Basic Science / Preclinical (27%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (14%).
Research Type
Count
% of Total
Laboratory research
19
27%
Research summaries
14
20%
Disease patterns and progression
10
14%
Patient case studies
7
10%
New treatment approaches
7
10%
Clinical study results
6
9%
Other research
4
6%
Testing and diagnosis research
3
4%
Recent Publications
Sangeeth TA (2026). [PMID: 41564653](https://pubmed.ncbi.nlm.nih.gov/41564653/). *Seizure*. [Review / Meta-Analysis]
A study identifies a naturally occurring lysosomal storage disease resembling neuronal ceroid lipofuscinosis in five related captive rhesus macaques. This discovery may provide insights into the disease mechanisms and potential therapeutic approaches for similar conditions in humans.
A new CME course titled 'Rare Diseases in Practice' aims to equip primary care providers with essential knowledge on gene and cell therapies for rare diseases. This initiative highlights the shift from symptomatic treatments to causal therapies, emphasizing the importance of education in this rapidly evolving field.
Despite ongoing research, no disease-modifying therapies exist for neuronal ceroid lipofuscinosis, with 5 completed clinical trials and 19 case reports since 1977. The lack of proven treatments highlights the challenges faced in developing effective therapies for this rare disease.
