Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
キーワード
概要
説明
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary fibrosis (often fatal in the fourth or fifth decade), chronic granulomatous colitis and, rarely, renal involvement or cardiomyopathy. There exist 10 different genes known to cause HPS, but only HPS-2 and HPS-10 have a basic defect whose mechanism is known, i.e., defective subunits of a coat protein, adaptor complex-3, responsible for intracellular vesicle formation. HPS-1 is a severe genetic type common in northwest Puerto Rico, and HPS-3 is a milder one seen in central Puerto Rico. HPS-4 resembles HPS-1 in severity; HPS-5 and HPS-6 resemble HPS-3 in severity. HPS-7, HPS-8, and HPS-9 are extremely rare and have not been fully characterized. The purpose of this protocol is to evaluate individuals with HPS, perform mutation analysis for known HPS-causing genes, search for variants in other genes responsible for HPS, and obtain specimens to analyze basic mechanisms of HPS.
日付
最終確認済み: | 05/04/2020 |
最初に提出された: | 11/02/1999 |
提出された推定登録数: | 11/02/1999 |
最初の投稿: | 11/03/1999 |
最終更新が送信されました: | 10/20/2020 |
最終更新日: | 10/21/2020 |
実際の研究開始日: | 11/05/1995 |
状態または病気
段階
アームグループ
腕 | 介入/治療 |
---|---|
HPS HPS patients of any gender and ethnicity age 1-80 years | |
HPS Symptom Questionnaire Includes both patients and family members or caregivers. |
適格基準
研究の対象となる年齢 | 1 Year に 1 Year |
研究に適格な性別 | All |
サンプリング方法 | Non-Probability Sample |
健康なボランティアを受け入れる | はい |
基準 | - INCLUSION CRITERIA: Subjects with HPS age 1-80 years are eligible to enroll in this protocol. The diagnosis of HPS is based upon a paucity or deficiency of platelet dense bodies on whole mount electron microscopy or the identification of pathogenic variants in HPS genes by genetic testing. Some subjects who have not been diagnosed with HPS may be admitted to the protocol based upon the presence of albinism and a platelet storage pool deficiency. Most female subjects who participate in the Obstetrics/Gynecology Questionnaire will be enrolled in the protocol. Subjects with HPS or family members who are their caregivers participating in the HPS Symptom Questionnaire will be at least 18 years of age. These subjects will enroll in the protocol and will provide written consent. EXCLUSION CRITERIA: Infants under age one year are excluded because there is generally no urgency for a very early diagnosis and care is more readily provided to older infants at the Clinical Center. Pregnant women and adults who are unable to provide consent are excluded. |
結果
主な結果の測定
1. Natural History [Ongoing]