This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the ...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding choroideremia hypopituitarism is primarily due to its rarity, affecting fewer individuals worldwide. This has resulted in a lack of systematic clinical studies and comprehensive data collection. Additionally, the complex nature of the condition, including overlapping symptoms with other disorders and the absence of identified genes, adds to the challenges in understanding and documenting its clinical features.
To navigate choroideremia hypopituitarism, consider seeking a specialist in genetic disorders or an endocrinologist with experience in pituitary conditions. While there are currently no patient organizations specifically identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial as research develops.
Currently, there is one orphan drug designated for choroideremia hypopituitarism: an adeno-associated viral vector serotype 2 containing the human Rab escort protein 1 gene, which is still in development. Unfortunately, there are no active clinical trials available at this time. For ongoing research updates, you can search ClinicalTrials.gov for related studies.
Actionable guidance for navigating care for choroideremia hypopituitarism
To navigate choroideremia hypopituitarism, consider seeking a specialist in genetic disorders or an endocrinologist with experience in pituitary conditions. While there are currently no patient organizations specifically identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial as research develops.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding choroideremia hypopituitarism is primarily due to its rarity, affecting fewer individuals worldwide. This has resulted in a lack of systematic clinical studies and comprehensive data collection. Additionally, the complex nature of the condition, including overlapping symptoms with other disorders and the absence of identified genes, adds to the challenges in understanding and documenting its clinical features.
To navigate choroideremia hypopituitarism, consider seeking a specialist in genetic disorders or an endocrinologist with experience in pituitary conditions. While there are currently no patient organizations specifically identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial as research develops.
Currently, there is one orphan drug designated for choroideremia hypopituitarism: an adeno-associated viral vector serotype 2 containing the human Rab escort protein 1 gene, which is still in development. Unfortunately, there are no active clinical trials available at this time. For ongoing research updates, you can search ClinicalTrials.gov for related studies.
Actionable guidance for navigating care for choroideremia hypopituitarism
To navigate choroideremia hypopituitarism, consider seeking a specialist in genetic disorders or an endocrinologist with experience in pituitary conditions. While there are currently no patient organizations specifically identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial as research develops.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding choroideremia hypopituitarism is primarily due to its rarity, affecting fewer individuals worldwide. This has resulted in a lack of systematic clinical studies and comprehensive data collection. Additionally, the complex nature of the condition, including overlapping symptoms with other disorders and the absence of identified genes, adds to the challenges in understanding and documenting its clinical features.
To navigate choroideremia hypopituitarism, consider seeking a specialist in genetic disorders or an endocrinologist with experience in pituitary conditions. While there are currently no patient organizations specifically identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial as research develops.
Currently, there is one orphan drug designated for choroideremia hypopituitarism: an adeno-associated viral vector serotype 2 containing the human Rab escort protein 1 gene, which is still in development. Unfortunately, there are no active clinical trials available at this time. For ongoing research updates, you can search ClinicalTrials.gov for related studies.
Actionable guidance for navigating care for choroideremia hypopituitarism
To navigate choroideremia hypopituitarism, consider seeking a specialist in genetic disorders or an endocrinologist with experience in pituitary conditions. While there are currently no patient organizations specifically identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring opportunities for participation in natural history studies or registries may be beneficial as research develops.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
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 — 2 companies have 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.