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Genetics (NGS) in Pheochromocytoma

Next-generation sequencing in Pheochromocytoma â?? Paraganglioma: single centre experience from Western India

Status
Recruiting
Phases
Unknown
Study type
Interventional
Source
CTRI
Registry ID
CTRI/2021/04/033168
Enrollment
500
Registered
2021-04-27
Start date
Unknown
Completion date
Unknown
Last updated
2021-11-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Health Condition 1: C741- Malignant neoplasm of medulla of adrenal gland

Interventions

Intervention1: Clinical exome sequencing: Patients will be tested for mutations and deletions in PPGL susceptibility genes by genetic panel testing based on Next Generation sequencing technologies Con

Sponsors

Department of Endocrinology
Lead Sponsor

Eligibility

Inclusion criteria

Inclusion criteria: Proven PPGL - histopathological confirmation In patients where histopathology is not available, plasma free metanephrines, functional imaging (131I-metaiodobenzylguanidine (MIBG) or 68Ga-DOTATATE scan) and anatomical imaging (Computed tomography (CT) in PCC and sPGL, magnetic resonance imaging (MRI) in HNPGL) will be used to confirm diagnosis

Exclusion criteria

Exclusion criteria: No consent

Design outcomes

Primary

MeasureTime frame
- To characterize germline mutations in PPGL patients in single centre in Western India using NGS.Timepoint: 5 years

Secondary

MeasureTime frame
- To correlate genetic findings obtained through NGS with clinical and biochemical features and phenotypeTimepoint: 6 years

Countries

India

Contacts

Public ContactDr Tushar Bandgar

Seth G. S. Medical College and KEM Hospital

drtusharb@gmail.com9820025037

Outcome results

None listed

Source: CTRI (via WHO ICTRP) · Data processed: Feb 4, 2026