Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers
NCT00188019 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 248
Last updated 2015-07-23
Summary
Hereditary paraganglioma -due to SDH (SDHD, SDHB, SDHC) germline mutations- causes paragangliomas and pheochromocytomas. Presymptomatic genetic testing should be offered to all first-degree relatives if an SDH mutation is detected in an index case with paraganglioma or pheochromocytoma. The main objective of our national clinical research project is to test different screening methods to detect presymptomatic tumors in order to establish guidelines for the work-up and the follow-up of SDH mutation carriers.
Conditions
- Paraganglioma
- Pheochromocytoma
Interventions
- PROCEDURE
-
diagnosis methods
Sponsors & Collaborators
-
Assistance Publique - Hôpitaux de Paris
collaborator OTHER -
University Hospital, Angers
lead OTHER_GOV
Principal Investigators
-
Vincent Rohmer, MD · University Angers Hospital
-
Anne-Paule Gimenez-Roqueplo, MD, PhD · Paris-Descartes University, Européen Georges Pompidou Hospital, Assistance Publique des Hôpitaux de Paris
Study Design
- Allocation
- NON_RANDOMIZED
- Purpose
- DIAGNOSTIC
- Masking
- NONE
- Model
- SINGLE_GROUP
Eligibility
- Min Age
- 6 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2005-11-30
- Primary Completion
- 2013-11-30
- Completion
- 2013-11-30
Countries
- France
Study Locations
More Related Trials
-
Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.
NCT00154960 ·Status: UNKNOWN
-
The International PNH Interest Group PNH Registry
NCT06524726 ·Status: RECRUITING
-
Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular Dysplasia
NCT02961868 ·Status: COMPLETED ·Phase: NA
-
Consequences of Mutations in the SPG7 Gene at the Heterozygous State
NCT05127967 ·Status: COMPLETED ·Phase: NA
-
Clinical Diagnosis of Acute Porphyria
NCT01568554 ·Status: COMPLETED
-
GBE Deficiency (GSD IV and APBD) Natural History Study
NCT02683512 ·Status: RECRUITING
-
Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France
NCT02887781 ·Status: RECRUITING
-
French Observatory for Patients with Type 3 Glycogenosis
NCT06616545 ·Status: RECRUITING
-
NIPD on cffDNA for Triplet Repeat Diseases
NCT04698551 ·Status: UNKNOWN
-
Vascular Abnormalities and Bleeding Diathesis
NCT04553172 ·Status: COMPLETED
-
Fibroblast Growth Factor 23 in Chronic Respiratory Failure
NCT05258370 ·Status: NOT_YET_RECRUITING
-
Secondary Findings From High-throughput Sequencing: How to Announce Them With Respect to the Patient's Needs
NCT03288727 ·Status: COMPLETED ·Phase: NA
-
Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31
NCT02859428 ·Status: TERMINATED
-
Validation of Hemorrhoidal Bleeding Score
NCT03060616 ·Status: COMPLETED
-
Hematological Disorders in Patients With GI Angiodysplasia
NCT07183995 ·Status: NOT_YET_RECRUITING
-
Impact of c242T Polymorphism of p22phox in Diabetic type1 Nephropathy
NCT01371955 ·Status: COMPLETED
-
Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT00873678 ·Status: COMPLETED
-
The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH)
NCT00721864 ·Status: COMPLETED
-
STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies
NCT06572046 ·Status: RECRUITING
-
Irisin Expression and Gene Polymorphism With Peripartum Cardiomyopathy.
NCT04927715 ·Status: UNKNOWN
-
Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
NCT00705055 ·Status: COMPLETED
-
MyVHL: Patient Natural History Study
NCT03749980 ·Status: RECRUITING
-
Hemodynamic Instability of Patient With Spontaneous Subarachnoid Hemorrhage
NCT06218654 ·Status: RECRUITING
-
Prevalence of Pulmonary Arterial Hypertension in Patients With Connective Tissue Diseases in Egyptian Patients
NCT02768259 ·Status: UNKNOWN
-
Phenotyping of Primary Hyperoxaluria
NCT05107830 ·Status: UNKNOWN