A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected peop...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding CLN6 is primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals worldwide. This rarity restricts the scope of systematic clinical studies and comprehensive phenotype characterization. Additionally, the genetic basis was only recently identified, leading to ongoing efforts to better understand the condition and its manifestations.
To navigate your care effectively, consider consulting a neurologist with expertise in hereditary ataxias or neurodegenerative disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. While there are no specific patient organizations for CLN6, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, inquire about participating in any available natural history studies or registries that focus on rare neurological conditions.
Currently, there are no orphan drugs designated for CLN6. However, there is one active clinical trial aimed at exploring potential treatments. For more information on this trial, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=ceroid%20lipofuscinosis%2C%20neuronal%2C%206A. This trial may provide insights into new therapeutic approaches for managing the symptoms of this condition.
Actionable guidance for navigating care for ceroid lipofuscinosis, neuronal, 6A
To navigate your care effectively, consider consulting a neurologist with expertise in hereditary ataxias or neurodegenerative disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. While there are no specific patient organizations for CLN6, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, inquire about participating in any available natural history studies or registries that focus on rare neurological conditions.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding CLN6 is primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals worldwide. This rarity restricts the scope of systematic clinical studies and comprehensive phenotype characterization. Additionally, the genetic basis was only recently identified, leading to ongoing efforts to better understand the condition and its manifestations.
To navigate your care effectively, consider consulting a neurologist with expertise in hereditary ataxias or neurodegenerative disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. While there are no specific patient organizations for CLN6, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, inquire about participating in any available natural history studies or registries that focus on rare neurological conditions.
Currently, there are no orphan drugs designated for CLN6. However, there is one active clinical trial aimed at exploring potential treatments. For more information on this trial, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=ceroid%20lipofuscinosis%2C%20neuronal%2C%206A. This trial may provide insights into new therapeutic approaches for managing the symptoms of this condition.
Actionable guidance for navigating care for ceroid lipofuscinosis, neuronal, 6A
To navigate your care effectively, consider consulting a neurologist with expertise in hereditary ataxias or neurodegenerative disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. While there are no specific patient organizations for CLN6, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, inquire about participating in any available natural history studies or registries that focus on rare neurological conditions.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding CLN6 is primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals worldwide. This rarity restricts the scope of systematic clinical studies and comprehensive phenotype characterization. Additionally, the genetic basis was only recently identified, leading to ongoing efforts to better understand the condition and its manifestations.
To navigate your care effectively, consider consulting a neurologist with expertise in hereditary ataxias or neurodegenerative disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. While there are no specific patient organizations for CLN6, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, inquire about participating in any available natural history studies or registries that focus on rare neurological conditions.
Currently, there are no orphan drugs designated for CLN6. However, there is one active clinical trial aimed at exploring potential treatments. For more information on this trial, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=ceroid%20lipofuscinosis%2C%20neuronal%2C%206A. This trial may provide insights into new therapeutic approaches for managing the symptoms of this condition.
Actionable guidance for navigating care for ceroid lipofuscinosis, neuronal, 6A
To navigate your care effectively, consider consulting a neurologist with expertise in hereditary ataxias or neurodegenerative disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. While there are no specific patient organizations for CLN6, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, inquire about participating in any available natural history studies or registries that focus on rare neurological conditions.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 4 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.