Autosomal dominant form of osteopetrosis (disease).
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding autosomal dominant osteopetrosis reflects the challenges of studying rare diseases that affect a small number of individuals. With no established genetic basis or clear clinical features, systematic studies have been sparse. This makes it difficult for healthcare providers and researchers to gather comprehensive information about the condition.
To navigate your care for autosomal dominant osteopetrosis, seek out specialists in metabolic bone disorders or geneticists with expertise in rare bone diseases. Although no patient organizations are currently identified, you can find resources at the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, consider genetic counseling to discuss any potential familial implications and explore registry opportunities for further support and research participation.
Currently, there is an orphan drug designated for this condition, specifically a double stranded small interfering RNA targeting the CLCN7G215R allele. However, there are no active clinical trials available at this time. Continued research into this drug may offer hope for future therapeutic options. For more information on ongoing studies, you can search ClinicalTrials.gov.
Actionable guidance for navigating care for autosomal dominant osteopetrosis
To navigate your care for autosomal dominant osteopetrosis, seek out specialists in metabolic bone disorders or geneticists with expertise in rare bone diseases. Although no patient organizations are currently identified, you can find resources at the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, consider genetic counseling to discuss any potential familial implications and explore registry opportunities for further support and research participation.
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
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has 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.