Genetic testing for Hereditary pheochromocytoma/ paraganglioma syndrome(HPPS)

Not Applicable

Recruiting

• Conditions: Pheochromocytoma and Paraganglioma Index case Asymptomatic carrier(first relative degrees)

• Registration Number: JPRN-UMIN000010034
• Lead Sponsor: niversity of Tsukuba,Faculty of Medicine

Brief Summary

Takeichi N,et al .Identical Germline Mutations in the TMEM127 Gene in 2 Unrelated Japanese Patients with Bilateral Pheochromocytoma. Clinical Endocrinology,77,7.7-714,2012 Kodama H, Iihara M, Nissato S, Isobe K, Kawakami Y, Okamoto T, Takekoshi K: A large deletion in the succinate dehydrogenase B gene (SDHB) in a Japanese patient with abdominal paraganglioma and concomitant metastasis. Endocrine Journal, 57, 351-356, 2010 Saito T, Saito Y, Matsumura K, Tsubota Y, Maniwa T, Kaneda H, Minami K, Sakaida N, Uemura Y, Kawa G, Yamamoto N, Fujii Y, Isobe K, Kawakami Y, Matsuda T, Takekoshi K: Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis. Endocrine Journal, 56, 451-458, 2009

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2013-02-15
• Last Update Posted: 17 October 2023

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 900

Inclusion Criteria

Not provided

Exclusion Criteria

under 16 years old

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Efficasy for genetic testing for HPPS