Team Telomere, Inc

Cycle 2

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Telomere biology disorders are a complex set of illnesses, including dyskeratosis congenita, defined by the presence of very short telomeres (the regions at the end of chromosomes). Telomere biology disorders are associated with a higher risk of cancers, including leukemia and head/neck cancer.

Last updated 04/30/2025

Clinical

Disease Class

Gastroenterological diseases

Genetic diseases

Hematological diseases

Hepatic diseases

Immunological diseases

Ophthalmic diseases

Respiratory diseases

Skin diseases

Body Systems

Digestive

Endocrine

Hematopoietic / Lymphatic / Immune

Muscular / Skeletal

Nervous / Sensory

Reproductive

Respiratory

Organs

Arteries

Blood

Bone marrow

Bones

Brain

Connective tissue / joints

Esophagus

Eyes

Hair

Intestines

Liver

Lungs

Lymph fluid, nodes, ducts, vessels

Mouth / teeth

Nails

Skin

Known Genetic Link

Yes, one or more genes directly cause the condition

causative_genes

ACD

CTC1

DKC1

NAF1

NHP2

NOP10

PARN

POLA2

POT1

RPA1

RTEL1

STN1

TERC

TERT

TINF2

TYMS

WRAP53

ZCCHC8

contributory_genes

None specified / unknown

Type of Inheritance

Autosomal dominant

Autosomal recessive

De novo

X-linked recessive

Newborn Screening

Disease Mechanism(s)

Abnormal cell proliferation

Abnormal telomere maintenance

Immune deficiencies

Mitotic cell division error

Pathogenic mutation

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Infancy (age 0-1)

Middle childhood (6-11)

Prebirth

Average Age at Diagnosis

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Infancy (age 0-1)

Middle childhood (6-11)

Pre-Birth

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Infancy (age 0-1)

Middle childhood (6-11)

Pre-Birth

Affected Sex(es)

Female

Intersex

Male

National Prevalence

1001-10000

Global Prevalence

1001-10000

National Incidence

Less than 10

Global Incidence

Less than 10

Populations and/or ancestry with higher prevalence

TBDs have been identified across all racial and ethnic groups. Data suggests that there may be pockets with increased prevalence such as secondary to due to founder mutations or consanguinity. Limited awareness and testing availability in regions limits an accurate understanding of this information.

Symptoms / Phenotypes

abnormal small intestine morphology

avascular necrosis

bone marrow failure / bone marrow hypocellularity

cancer, brain tumor

cancer, leukemia

capillary malformation

cerebellar hypoplasia

enterocolitis

esophageal stenosis

intrahepatic portal vein sclerosis

liver disease

nail dysplasia

neurodevelopmental abnormality

oral leukoplakia

pulmonary fibrosis

reticulated skin pigmentation

telangiectases

venous malformation

Biomarkers

Diagnostic

· Telomere length measurement by flow FISH is used as a diagnostic biomarker. Genetic testing can identify P/LP variants.

Monitoring

· Blood counts, liver function tests, pulmonary function tests, etc. may act as indirect biomarkers for organ involvement over time.

Prognostic

· There is evidence that telomere length can serve as a prognostic biomarker.

Therapeutic

· Blood counts, liver function tests, pulmonary function tests, etc. may act as indirect biomarkers for organ response. Telomere length has also been measured prior to and following therapeutic intervention.

Existing Therapies

Complementary and Alternative treatments

· Some patients explore complementary approaches, such as dietary modifications, supplements, and lifestyle interventions.

FDA-Approved for Symptom Relief

· Examples of this include granulocyte colony-stimulating factor (G-CSF) for neutropenia.

FDA-Approved to Cure or Modify the Disease

· None specific to TBDs. Hematopoietic stem cell transplantation (HSCT) is the only curative option for bone marrow failure but is not FDA-approved specifically for TBDs. Similarly, lung transplantation and liver transplantation have been utilized.

Off-Label Drug Use

Organizational & Research

Cell Lines

iPSCs

Cell Lines, Institution

Boston Children's Hospital

Cell Lines, Involvement

Funded

Cell Lines, share

Unsure

Disease Model

Mouse

Organoids

Disease Model, Involvement

Funded

Disease Model, share

Unsure

Clinical Trial Role

Data sharing

Focus group

Funding

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Results dissemination, publication

Study material design, review (not protocol)

Study protocol design, review

Travel coordination

Biobank, Institution

None

Center of Excellence, Institution

Boston Children's Hospital

Children's Hospital of Colorado

Children’s Hospital of Philadelphia (CHOP)

Cincinnati Children's Hospital

Cohen Children's Medical Center

Dana-Farber Cancer Institute

IRCCS Istituto Giannina Gaslini

Mayo Clinic

Rady Children's Hospital

Schneider Children's Medical Center of Israel

St. Jude Children’s Research Hospital

Tel Aviv Sourasky Medical Center (TASMC)

Texas Childrens Hospital

University Hospital Aachen

University of California San Diego (UCSD)

University of Minnesota

University of Pennsylvania (PENN)

University of Utah

University of Wisconsin-Madison

Center of Excellence, Involvement

Designed

Endorsed/Certified/Accredited

Registry

Yes, we have a registry that we created

Data Collected, Registry

Genetic data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

Platform, Registry

RARE-X

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Electronic health records/electronic medical records

Genetic data

Imaging data

Medication usage

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

Other

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We are working on obtaining an ICD-10 code

Diagnostic Guidelines

Yes, we have guidance available on our website

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN but no policies

Research Roadmap

We don't have a Research Roadmap

International Chapters

None

International Partners

Europe

North America