autosomal recessive osteopetrosis

Autosomal recessive osteopetrosis is characterized by the failure of osteoclasts to resorb bone, leading to increased bone mass but skeletal fragility. This condition is associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. While the genetic basis involves mutations in at least eight genes related to osteoclast function, specific genes have not yet been identified. The inheritance pattern remains unestablished, and the prevalence is estimated to be between 1 and 9 in 1,000,000, indicating its rarity.

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.

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.