Albinism

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Information
Disease name
Albinism
Disease ID
Description
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT04658381 Completed N/A Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population December 17, 2020 November 2, 2023
NCT00001596 Completed Phase 2 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome September 2005 May 9, 2016
NCT01176435 Completed Phase 2 Trial of L-DOPA as a Treatment to Improve Vision in Albinism September 2010 December 2014
NCT00001153 Completed Visual Function and Ocular Pigmentation in Albinism June 1976 May 2000
NCT01838655 Completed Phase 1/Phase 2 Nitisinone for Type 1B Oculocutaneous Albinism April 16, 2013 February 7, 2017
NCT06330324 Enrolling by invitation Reproductive Options in Inherited Skin Diseases January 1, 2024 September 1, 2026
NCT06330350 Recruiting Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling January 1, 2024 December 31, 2025
NCT05696912 Recruiting N/A Functional Tests to Resolve Unsolved Rare Diseases. Rares. January 30, 2023 February 2025
NCT05954416 Recruiting FARD (RaDiCo Cohort) (RaDiCo-FARD) March 7, 2018 March 7, 2027
NCT01663935 Terminated Phase 2 Vision Response to Dopamine Replacement October 17, 2012 April 12, 2018
NCT04281732 Unknown status Visual Performance Measures in a Virtual Reality Environment for Assessing Clinical Trial Outcomes in Those With Severely Reduced Vision October 1, 2018 December 31, 2020
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0001022
ICD10 preferred id (Insert disease from ICD10)
D0003855
ICD10 class code (Insert disease from ICD10)
E70.3
MeSH unique ID (MeSH (Medical Subject Headings))
D000417