Lymphangiomatosis & Gorham's Disease Alliance, Inc. (LGDA)

Cycle 1

Web:

Contact:

Complex Lymphatic Anomalies (CLAs) are a group of rare diseases that are characterized by abnormal growth of lymphatic vessels that may involve multiple organ systems, including lung, spleen, soft tissue and bones. CLAs include: Gorham Stout Disease (GSD), Generalized Lymphatic Anomaly (GLA), Kaposiform Lymphangiomatosis (KLA) and Central Conducting Lymphatic Anomaly (CCLA).

Last updated 04/30/2026

Clinical

Disease Class

Bone diseases

Developmental anomalies during embryogenesis

Vascular disease

Body Systems

Cardiovascular / Circulatory

Digestive

Hematopoietic / Lymphatic / Immune

Muscular / Skeletal

Nervous / Sensory

Renal / Urinary / Excretory

Reproductive

Respiratory

Organs

Blood

Bones

Breasts

Connective tissue / joints

Heart

Intestines

Kidneys

Liver

Lungs

Penis

Skin

Stomach

Testes

Vagina

Vulva

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

ARAF

BRAF

CBL

FOXC2

GBA

GBE1

HRAS

KRAS

NRAS

PIEZO1

PIK3CA

PTPN11

RAF1

RIT1

SOS1

Contributory Genes

None specified / unknown

Type of Inheritance

De novo

Newborn Screening

Disease Mechanism(s)

Other

Vascular/Angiogenesis Defects

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Prebirth

Average Age at Diagnosis

Early childhood (age 1+-5)

Life Expectancy

Elderly (age 65+)

Affected Sex(es)

Female

Male

National Prevalence

Unknown

Global Prevalence

Unknown

National Incidence

Unknown

Global Incidence

Unknown

Symptoms / Phenotypes

abdominal swelling

abnormal brain features

anxiety

ascites

balance problems

bone break / fracture

bone pain

breathing difficulties

cardiac abnormalities

CSF leak

diarrhea

edema

fever

malnutrition

pain, abdominal

pain, chest

pleural effusion

protein-losing enteropathy

vomiting / nausea

Biomarkers

Diagnostic

· Angiopoietin 2 (Ang2)

Monitoring

· Angiopoietin 2 (Ang2)

Existing Therapies

Complementary and Alternative treatments

· bisphosphonates

Off-Label Drug Use

Regulatory Agency-Approved for Symptom Relief

· alpelisib

Therapies in Development

Antibody-based therapy (monoclonal antibodies, biologics)

· TIE2 receptor monoclonal

Repurposed drug

· alpelesib, Zovegalisib, trametinib, QTORIN rapamycin

Surgical & interventional

· TARA 2 (sclerosant for sclerotherapy)

Therapeutic Development Stages

Awaiting final regulatory decision

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Focus group participation or coordination

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Recruitment and outreach to patients

Results dissemination (including publications)

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

Cell Lines, share

N/A

Disease Model

Mouse

Organoids

Zebrafish

Disease Model, Involvement

Funded

Disease Model, share

All our disease models are freely available

Organizational Challenges

Not specified (left blank)

Clinical Trial Role

Not specified

Biobank, Institution

None

Center of Excellence, Institution

None

Registry

Yes, we have a registry that we created

Data Collected, Registry

Clinical data

Electronic health records/electronic medical records

Genetic data

Imaging data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

Platform, Registry

IAMRARE

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Electronic health records/electronic medical records

Genetic data

Medication usage

Retrospective data

Platform, Natural History Study

AllStripes

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We use an ICD-10 code capturing the family of diseases to which our disease belongs

Diagnostic Guidelines

Yes, we have guidance available on our website

In the process of creating formal diagnostic guidelines for publication in a peer-reviewed journal

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Research Roadmap

We don't have a Research Roadmap

None

Asia

Europe

North America

Europe

North America