Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding avascular necrosis of the femoral head is limited due to the rarity of the condition and the challenges in conducting systematic clinical studies. As this condition affects a relatively small population, comprehensive data collection and research have been difficult. Additionally, the genetic basis was only recently identified, which adds to the complexity of understanding its clinical manifestations.
Patients with avascular necrosis of the femoral head typically experience severe groin and hip pain, which can significantly impact mobility. The presence of generalized osteoporosis suggests a systemic issue that may contribute to the fragility of the femoral head. These symptoms are consistently reported, indicating a clear clinical picture that necessitates careful monitoring and management.
To navigate your care effectively, consider consulting an orthopedic specialist with experience in avascular necrosis. Genetic counseling may also be beneficial given the identified COL2A1 gene involvement. For additional support, you can explore resources like the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov. Participating in clinical trials could also provide access to cutting-edge treatments and contribute to the understanding of this condition.
There are currently 24 active clinical trials investigating various aspects of avascular necrosis of the femoral head. While there are no orphan drug designations, these trials may explore potential treatments and management strategies. For more information on ongoing trials, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=avascular%20necrosis%20of%20femoral%20head%2C%20primary%2C%201.
Actionable guidance for navigating care for avascular necrosis of femoral head, primary, 1
To navigate your care effectively, consider consulting an orthopedic specialist with experience in avascular necrosis. Genetic counseling may also be beneficial given the identified COL2A1 gene involvement. For additional support, you can explore resources like the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov. Participating in clinical trials could also provide access to cutting-edge treatments and contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding avascular necrosis of the femoral head is limited due to the rarity of the condition and the challenges in conducting systematic clinical studies. As this condition affects a relatively small population, comprehensive data collection and research have been difficult. Additionally, the genetic basis was only recently identified, which adds to the complexity of understanding its clinical manifestations.
Patients with avascular necrosis of the femoral head typically experience severe groin and hip pain, which can significantly impact mobility. The presence of generalized osteoporosis suggests a systemic issue that may contribute to the fragility of the femoral head. These symptoms are consistently reported, indicating a clear clinical picture that necessitates careful monitoring and management.
To navigate your care effectively, consider consulting an orthopedic specialist with experience in avascular necrosis. Genetic counseling may also be beneficial given the identified COL2A1 gene involvement. For additional support, you can explore resources like the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov. Participating in clinical trials could also provide access to cutting-edge treatments and contribute to the understanding of this condition.
There are currently 24 active clinical trials investigating various aspects of avascular necrosis of the femoral head. While there are no orphan drug designations, these trials may explore potential treatments and management strategies. For more information on ongoing trials, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=avascular%20necrosis%20of%20femoral%20head%2C%20primary%2C%201.
Actionable guidance for navigating care for avascular necrosis of femoral head, primary, 1
To navigate your care effectively, consider consulting an orthopedic specialist with experience in avascular necrosis. Genetic counseling may also be beneficial given the identified COL2A1 gene involvement. For additional support, you can explore resources like the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov. Participating in clinical trials could also provide access to cutting-edge treatments and contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding avascular necrosis of the femoral head is limited due to the rarity of the condition and the challenges in conducting systematic clinical studies. As this condition affects a relatively small population, comprehensive data collection and research have been difficult. Additionally, the genetic basis was only recently identified, which adds to the complexity of understanding its clinical manifestations.
Patients with avascular necrosis of the femoral head typically experience severe groin and hip pain, which can significantly impact mobility. The presence of generalized osteoporosis suggests a systemic issue that may contribute to the fragility of the femoral head. These symptoms are consistently reported, indicating a clear clinical picture that necessitates careful monitoring and management.
To navigate your care effectively, consider consulting an orthopedic specialist with experience in avascular necrosis. Genetic counseling may also be beneficial given the identified COL2A1 gene involvement. For additional support, you can explore resources like the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov. Participating in clinical trials could also provide access to cutting-edge treatments and contribute to the understanding of this condition.
There are currently 24 active clinical trials investigating various aspects of avascular necrosis of the femoral head. While there are no orphan drug designations, these trials may explore potential treatments and management strategies. For more information on ongoing trials, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=avascular%20necrosis%20of%20femoral%20head%2C%20primary%2C%201.
Actionable guidance for navigating care for avascular necrosis of femoral head, primary, 1
To navigate your care effectively, consider consulting an orthopedic specialist with experience in avascular necrosis. Genetic counseling may also be beneficial given the identified COL2A1 gene involvement. For additional support, you can explore resources like the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov. Participating in clinical trials could also provide access to cutting-edge treatments and contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
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
Online Mendelian Inheritance in Man
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. 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.