Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding alpha-mannosidosis, infantile form, is primarily due to its extreme rarity, affecting fewer than a few hundred individuals worldwide. This rarity restricts the ability to conduct large-scale clinical studies and gather comprehensive data on the condition. Additionally, the lack of identified genetic factors and systematic clinical features complicates the understanding of the disease, making it difficult for patients and families to find the information they need.
To navigate your journey with alpha-mannosidosis, consider seeking a specialist in metabolic disorders or a geneticist with experience in lysosomal storage diseases. You can find resources and support through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. While there are currently no patient organizations identified specifically for this condition, exploring registries or natural history studies may provide additional support and information. Genetic counseling may also be beneficial, especially if there are concerns about familial implications.
Currently, there is one FDA-approved orphan drug for alpha-mannosidosis, which is velmanase alfa-tycv. Additionally, there is a designated drug in development, an adeno-associated virus serotype 6 containing human LAMAN cDNA. However, no clinical trial data is available at this time. For more information on ongoing research, you can search for related studies on ClinicalTrials.gov.
Actionable guidance for navigating care for alpha-mannosidosis, infantile form
To navigate your journey with alpha-mannosidosis, consider seeking a specialist in metabolic disorders or a geneticist with experience in lysosomal storage diseases. You can find resources and support through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. While there are currently no patient organizations identified specifically for this condition, exploring registries or natural history studies may provide additional support and information. Genetic counseling may also be beneficial, especially if there are concerns about familial implications.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding alpha-mannosidosis, infantile form, is primarily due to its extreme rarity, affecting fewer than a few hundred individuals worldwide. This rarity restricts the ability to conduct large-scale clinical studies and gather comprehensive data on the condition. Additionally, the lack of identified genetic factors and systematic clinical features complicates the understanding of the disease, making it difficult for patients and families to find the information they need.
To navigate your journey with alpha-mannosidosis, consider seeking a specialist in metabolic disorders or a geneticist with experience in lysosomal storage diseases. You can find resources and support through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. While there are currently no patient organizations identified specifically for this condition, exploring registries or natural history studies may provide additional support and information. Genetic counseling may also be beneficial, especially if there are concerns about familial implications.
Currently, there is one FDA-approved orphan drug for alpha-mannosidosis, which is velmanase alfa-tycv. Additionally, there is a designated drug in development, an adeno-associated virus serotype 6 containing human LAMAN cDNA. However, no clinical trial data is available at this time. For more information on ongoing research, you can search for related studies on ClinicalTrials.gov.
Actionable guidance for navigating care for alpha-mannosidosis, infantile form
To navigate your journey with alpha-mannosidosis, consider seeking a specialist in metabolic disorders or a geneticist with experience in lysosomal storage diseases. You can find resources and support through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. While there are currently no patient organizations identified specifically for this condition, exploring registries or natural history studies may provide additional support and information. Genetic counseling may also be beneficial, especially if there are concerns about familial implications.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding alpha-mannosidosis, infantile form, is primarily due to its extreme rarity, affecting fewer than a few hundred individuals worldwide. This rarity restricts the ability to conduct large-scale clinical studies and gather comprehensive data on the condition. Additionally, the lack of identified genetic factors and systematic clinical features complicates the understanding of the disease, making it difficult for patients and families to find the information they need.
To navigate your journey with alpha-mannosidosis, consider seeking a specialist in metabolic disorders or a geneticist with experience in lysosomal storage diseases. You can find resources and support through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. While there are currently no patient organizations identified specifically for this condition, exploring registries or natural history studies may provide additional support and information. Genetic counseling may also be beneficial, especially if there are concerns about familial implications.
Currently, there is one FDA-approved orphan drug for alpha-mannosidosis, which is velmanase alfa-tycv. Additionally, there is a designated drug in development, an adeno-associated virus serotype 6 containing human LAMAN cDNA. However, no clinical trial data is available at this time. For more information on ongoing research, you can search for related studies on ClinicalTrials.gov.
Actionable guidance for navigating care for alpha-mannosidosis, infantile form
To navigate your journey with alpha-mannosidosis, consider seeking a specialist in metabolic disorders or a geneticist with experience in lysosomal storage diseases. You can find resources and support through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. While there are currently no patient organizations identified specifically for this condition, exploring registries or natural history studies may provide additional support and information. Genetic counseling may also be beneficial, especially if there are concerns about familial implications.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.