Cure ADSSL1

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ADSS(L)1 Myopathy is a rare genetic disorder that causes muscular weakness right from birth and onset of rapid progression as affected individuals enter their teen years. The impact of this disease is devastating, causing failure in muscle function over time, leading to loss in mobility in the arms and legs. It also has grave impact on lungs and heart function.

Last updated 04/30/2026

Clinical

Disease Class

Genetic diseases

Inherited metabolic disorder

Muscular and neuromuscular diseases

Body Systems

Muscular / Skeletal

Respiratory

Organs

Esophagus

Heart

Lungs

Mouth / teeth

Muscles

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

ADSSL1 (ADSS1)

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal recessive

Newborn Screening

Disease Mechanism(s)

Purine/pyrimidine metabolism defect

Age of Onset

Early childhood (age 1+-5)

Average Age at Diagnosis

Adolescence (12-17)

Adulthood (age 18-64)

Life Expectancy

Adulthood (age 18-64)

Affected Sex(es)

Female

Male

National Prevalence

11-50

Global Prevalence

101-1000

National Incidence

Less than 10

Global Incidence

Less than 10

Populations and/or ancestry with higher prevalence

Asian - The identified patients are from the following origins: Korean, Japanese, Chinese, and Indian.

Symptoms / Phenotypes

balance problems

breathing difficulties

cardiac abnormalities

feeding difficulties

foot dorsiflexor weakness / foot drop

functional motor deficit

gait abnormalities / gait disturbance

hand muscle weakness

lower limb muscle weakness

shoulder girdle muscle weakness

upper limb muscle weakness

Biomarkers

None

Existing Therapies

None

Therapies in Development

Gene therapy

Small molecule therapy (novel small molecule drugs)

· ASA-001 (Adenylosuccinc Acid)

Therapeutic Development Stages

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

In preclinical development

Therapeutic Development Role

None

Organizational & Research

Cell Lines

Fibroblasts

iPSCs

Myoblasts

Cell Lines, Institution

Applied StemCell, Inc

Coriell Institute

Cell Lines, Involvement

Funded

Own

Cell Lines, share

All our cell lines are freely available

Disease Model

C. elegans

Mouse

Zebrafish

Disease Model, Institution

Boston Children's Hospital

Pennsylvania State University (Penn State)

Victoria University

Disease Model, Involvement

Funded

Disease Model, share

Some of our disease models are freely available

Organizational Challenges

Generation of Patient-Derived 3D Muscle Cell Model for ADSS1 Myopathy to screen drugs

Clinical Trial Role

Other

Study protocol design, review

Clinical Trial Types

Phase 1

Biobank, Institution

None

Center of Excellence, Institution

None

Registry

Yes, we have collaborated on a registry

Data Collected, Registry

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

Platform, Registry

Ordinal Data

Natural History Study

No, we do not have a natural history study, but we plan to create or collaborate on one

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

No, we do not have any ICD codes

Diagnostic Guidelines

Yes, we have guidance available on our website

Clinical/Treatment Guidelines

In the process of developing accredited guidelines

Science Advisory Board Policies

No policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None

Asia

Oceania