A Study to Examine Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia

Overview

About this study

The study aims to identify predictors of brain outcomes in Hereditary Hemorrhagic Telangiectasia (HHT) patients. The study will use the modified Rankin Score (mRS). Furthermore to define a severe bleeding phenotype in HHT for clinical trial readiness.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

NON- BAVM recruit (living)

Definite clinical HHT diagnosis (at least 3 Curacao criteria):
- Spontaneous recurrent nosebleeds;
- Mucocutaneous telangiectasia at characteristic sites (lips, oral cavity, fingers or nose);
- Organ AVM (lung, brain, liver, renal, spinal or limb AVMs or GI telangiectasia);
- An affected first-degree relative by same criteria.
Genetic diagnosis of HHT.

BAVM recruit (living) or BAVM recruit (deceased)

Presence of BAVM.
Definite clinical HHT diagnosis (at least 3 Curacao criteria):
- Spontaneous recurrent nosebleeds;
- Mucocutaneous telangiectasia at characteristic sites (lips, oral cavity, fingers or nose);
- Organ AVM (lung, brain, liver, renal, spinal or limb AVMs or GI telangiectasia);
- An affected first-degree relative by same criteria.
Genetic diagnosis of HHT.
Able to provide informed consent in person or via a parent or legal authorize representative.

Exclusion Criteria:

None.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location	Status	Contact
Rochester, Minn. Mayo Clinic principal investigator Vivek Iyer, M.D., M.P.H.	Closed-enrolling by invitation What is this? (?) "Close" Not open to everyone who meets the eligibility criteria, but only those invited to participate by the study team.	Contact information: Sue Ann Donlinger (507) 284-9259 Donlinger.SueAnn@mayo.edu

Mayo Clinic Location

Status

Contact

Rochester, Minn.

Mayo Clinic principal investigator

Vivek Iyer, M.D., M.P.H.

Closed-enrolling by invitation

Contact information:

Sue Ann Donlinger

(507) 284-9259

Donlinger.SueAnn@mayo.edu

More information

Publications

Publications are currently not available

Clinical Trials