An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding congenital generalized lipodystrophy is primarily due to its extreme rarity. This condition affects a very small number of individuals worldwide, making systematic clinical studies challenging. Additionally, the genetic basis was only recently identified, and ongoing research is needed to better characterize its clinical features.
To navigate congenital generalized lipodystrophy, consider seeking a specialist in metabolic disorders or a geneticist with experience in lipodystrophies. You may also benefit from genetic counseling to understand the implications of the known gene variants. Although no patient organizations are currently identified, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information on potential clinical trials.
Currently, there is one orphan drug designated for congenital generalized lipodystrophy, known as mibavademab. Additionally, there are 12 active clinical trials exploring various aspects of this condition. For more information on these trials, you can visit ClinicalTrials.gov and search for 'congenital generalized lipodystrophy' at https://clinicaltrials.gov/search?cond=congenital%20generalized%20lipodystrophy.
Actionable guidance for navigating care for congenital generalized lipodystrophy
To navigate congenital generalized lipodystrophy, consider seeking a specialist in metabolic disorders or a geneticist with experience in lipodystrophies. You may also benefit from genetic counseling to understand the implications of the known gene variants. Although no patient organizations are currently identified, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information on potential clinical trials.
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 31, 2026
Consider asking your healthcare providers these condition-specific questions
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. 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.