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Albinism
Clinical trial pipeline · Data from ClinicalTrials.gov
See which Albinism trials may be worth asking aboutClinical trial pipeline · Data from ClinicalTrials.gov
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Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet a…
Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imagin…
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recu…
Gastrointestinal stromal tumors (GISTs) are mostly driven by c-kit or PDGFRA mutations, and commonly occur in the stomach and small intestine. Targeted therapy…
The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broades…
This protocol is a natural history study designed to evaluate subjects (and some family members) with suspected or identified genetic diseases of allergic infla…
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinic…
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimiza…