An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, res...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation for autosomal recessive osteopetrosis is primarily due to its extreme rarity, affecting fewer than 10 individuals per million. This scarcity makes it challenging to conduct systematic clinical studies and gather comprehensive data. Additionally, the genetic basis of the condition is still being characterized, which further complicates the understanding of its clinical features.
To navigate your care for autosomal recessive osteopetrosis, consider consulting a hematologist with expertise in bone disorders or a specialist in genetic conditions affecting bone metabolism. While there are currently no identified patient organizations, you can access resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about any available natural history studies or registries that may provide further insights into the condition and connect you with other affected individuals.
Currently, there is an orphan drug designated for the treatment of autosomal recessive osteopetrosis: autologous genetically modified CD34+ hematopoietic cells transduced with a lentiviral vector encoding the TCIRG1 transgene. However, there are no clinical trials available at this time. For updates on ongoing research, you can search ClinicalTrials.gov for related studies.
Actionable guidance for navigating care for autosomal recessive osteopetrosis
To navigate your care for autosomal recessive osteopetrosis, consider consulting a hematologist with expertise in bone disorders or a specialist in genetic conditions affecting bone metabolism. While there are currently no identified patient organizations, you can access resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about any available natural history studies or registries that may provide further insights into the condition and connect you with other affected individuals.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation for autosomal recessive osteopetrosis is primarily due to its extreme rarity, affecting fewer than 10 individuals per million. This scarcity makes it challenging to conduct systematic clinical studies and gather comprehensive data. Additionally, the genetic basis of the condition is still being characterized, which further complicates the understanding of its clinical features.
To navigate your care for autosomal recessive osteopetrosis, consider consulting a hematologist with expertise in bone disorders or a specialist in genetic conditions affecting bone metabolism. While there are currently no identified patient organizations, you can access resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about any available natural history studies or registries that may provide further insights into the condition and connect you with other affected individuals.
Currently, there is an orphan drug designated for the treatment of autosomal recessive osteopetrosis: autologous genetically modified CD34+ hematopoietic cells transduced with a lentiviral vector encoding the TCIRG1 transgene. However, there are no clinical trials available at this time. For updates on ongoing research, you can search ClinicalTrials.gov for related studies.
Actionable guidance for navigating care for autosomal recessive osteopetrosis
To navigate your care for autosomal recessive osteopetrosis, consider consulting a hematologist with expertise in bone disorders or a specialist in genetic conditions affecting bone metabolism. While there are currently no identified patient organizations, you can access resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about any available natural history studies or registries that may provide further insights into the condition and connect you with other affected individuals.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation for autosomal recessive osteopetrosis is primarily due to its extreme rarity, affecting fewer than 10 individuals per million. This scarcity makes it challenging to conduct systematic clinical studies and gather comprehensive data. Additionally, the genetic basis of the condition is still being characterized, which further complicates the understanding of its clinical features.
To navigate your care for autosomal recessive osteopetrosis, consider consulting a hematologist with expertise in bone disorders or a specialist in genetic conditions affecting bone metabolism. While there are currently no identified patient organizations, you can access resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about any available natural history studies or registries that may provide further insights into the condition and connect you with other affected individuals.
Currently, there is an orphan drug designated for the treatment of autosomal recessive osteopetrosis: autologous genetically modified CD34+ hematopoietic cells transduced with a lentiviral vector encoding the TCIRG1 transgene. However, there are no clinical trials available at this time. For updates on ongoing research, you can search ClinicalTrials.gov for related studies.
Actionable guidance for navigating care for autosomal recessive osteopetrosis
To navigate your care for autosomal recessive osteopetrosis, consider consulting a hematologist with expertise in bone disorders or a specialist in genetic conditions affecting bone metabolism. While there are currently no identified patient organizations, you can access resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about any available natural history studies or registries that may provide further insights into the condition and connect you with other affected individuals.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
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.
Organizations with orphan designations or approved therapies for this disease