A Study about Genotypic and CLinical Data of Amyotrophic Lateral Sclerosis

A Pilot Study on the Construction of Integrated Genotypic and Clinical Data Aimed at Disease-Modifying Therapy for Early Diagnosis and Treatment of Amyotrophic Lateral Sclerosis - Toward the Development of a Collaborative Registry in the National Hospital Organization (NHO)

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-jRCT1030250277

Enrollment

Registered

2025-08-04

Start date

2025-08-18

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Amyotrophic lateral sclerosis

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. Patients who are capable of providing written informed consent. If the patient has adequate decision making capacity but is unable to write due to muscle weakness or other reasons, written informed consent may be obtained via proxy signature by a witness, confirming the patient's voluntary agreement to participate in the study. If the patient has impaired capacity to consent, written informed consent may be obtained from a legally authorized representative. 2. Patients who are 18 years of age or older at the time of consent. 3. Patients who meet at least one of the following criteria: Patients diagnosed with clinically probable laboratory supported ALS or higher according to the revised Awaji criteria. Patients with a confirmed or suspected diagnosis of SOD1 ALS or FUS ALS. Patients who can be clinically diagnosed with ALS based on symptoms, family history, and / or genetic findings, regardless of the above criteria.

Exclusion criteria

Exclusion criteria: 1. Patients who are under 18 years of age at the time of consent. 2. Patients in whom a diagnosis of ALS has been ruled out.

Design outcomes

Primary

Measure	Time frame
Presence and details of SOD1 mutations Presence and details of FUS mutations	—

Secondary

Measure	Time frame
Genetic analysis Presence and details of TARDBP mutations Presence and details of C9orf72 hexanucleotide repeat expansion Evaluation of ATXN2 CAG repeat length Evaluation of HTT CAG repeat length Phenotypic evaluation Age at enrollment (years) Sex (male / female) Age at symptom onset (years) Site of onset (upper limb / lower limb / bulbar) Age at diagnosis ALS Functional Rating Scale-Revised (ALSFRS-R) total and subdomain scores (collected at multiple time points including disease duration from onset) % Vital capacity (%VC) (collected at multiple time points including disease duration from onset) Hasegawa Dementia Scale-Revised (HDS-R) (collected at multiple time points including disease duration from onset) Presence of frontotemporal dementia (FTD) Age at tracheostomy (years) Age at percutaneous endoscopic gastrostomy (PEG) placement (years)	—

Measure

Time frame

Genetic analysis Presence and details of TARDBP mutations Presence and details of C9orf72 hexanucleotide repeat expansion Evaluation of ATXN2 CAG repeat length Evaluation of HTT CAG repeat length Phenotypic evaluation Age at enrollment (years) Sex (male / female) Age at symptom onset (years) Site of onset (upper limb / lower limb / bulbar) Age at diagnosis ALS Functional Rating Scale-Revised (ALSFRS-R) total and subdomain scores (collected at multiple time points including disease duration from onset) % Vital capacity (%VC) (collected at multiple time points including disease duration from onset) Hasegawa Dementia Scale-Revised (HDS-R) (collected at multiple time points including disease duration from onset) Presence of frontotemporal dementia (FTD) Age at tracheostomy (years) Age at percutaneous endoscopic gastrostomy (PEG) placement (years)

—

Contacts

Public ContactHaruka Urabe

NHO Niigata National Hospital

urabeharuka@gmail.com+81-257-22-2126

Outcome results