Hereditary AtaxiaHARMONYNCT07092358
Hereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta
An observational study of Hereditary Ataxia, run by Second Affiliated Hospital, Zhejiang University, School of Medicine at 2 sites in China.
Trial summary
The goal of this observational study is to explore the clinical and genetic characteristics, multi-omics profiles, disease mechanisms, biomarkers, and potential therapeutic targets of hereditary ataxia (HA) in patients diagnosed with HA, primarily in the Yangtze River Delta region of China. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hereditary Ataxia
- What is being tested?
- None of intervention
- How many people
- 5,000 participants
- Where
- 2 sitesChina
- Study dates
- 1 Jun 2025to 31 Dec 2035
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Chinese patients concentrated in the Yangtze River Delta region.
Who may be able to join
- Presence of progressive ataxia as a primary or persistent clinical feature;
- Sufficient evidence to exclude acquired causes of ataxia (e.g., chronic intoxication, immune-mediated inflammation, acquired vitamin deficiency, acute injury, stroke, infection, or space-occupying disorders);
- For sporadic late-onset cases (≥30 years), disease duration must exceed 3 years, with no prominent progressive autonomic dysfunction or other features indicative of multiple system atrophy-cerebellar type (MSA-C);
- Ability and willingness of the participant or legal guardian to provide informed consent and complete the entire study process.
Who cannot join
- Patients whose causative genes identified through genetic testing and analysis do not fall within the defined spectrum of hereditary ataxias, based on consensus classifications from the MDS Task Force on Genetic Movement Disorders and the SRCA Working Group, along with current research advancements;
- Presence of concurrent cerebrovascular disease, brain tumors, or severe systemic illness;
- Refusal to sign informed consent or provide biological samples by the participant or legal representative;
- Inability or unwillingness to participate in follow-up assessments.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
China2 sites, 2 recruiting
- Recruiting
Second Affiliated Hospital of Zhejiang University School of Medicine
Hangzhou, Zhejiang, 310009
Jin-Yang Yu, +86 18858178162, jinyangyu@zju.edu.cn
- Recruiting
Huashan Hospital, Fudan University
Shanghai, 200040
Yi-Min Sun, M.D., 86 + 21-52888164, sunyimin@fudan.edu.cn
About this study
The goal of this observational study is to explore the clinical and genetic characteristics, multi-omics profiles, disease mechanisms, biomarkers, and potential therapeutic targets of hereditary ataxia (HA) in patients diagnosed with HA, primarily in the Yangtze River Delta region of China. The main questions it aims to answer are:
- What are the key pathogenic genetic variants, modifying factors and special inheritance patterns underlying HA?
- How do multi-omics profiles correlate with clinical phenotypes, disease progress and mechanism in HA patients?
- What are the implications of these findings for clinical practice?
Read more
Participants will:
- Undergo retrospective and prospective clinical data collection through long-term follow-up to observe disease onset, progression, and outcomes.
- Provide biological samples (e.g., blood, skin) to establish a biobank for multi-omics analyses.
- Be characterized using multidimensional omics technologies to identify disease-related molecular signatures, progression mechanisms, and potential regulatory targets.
Read the detailed description
This project aims to establish a representative and continuously expanding cohort of hereditary ataxia in the Yangtze River Delta region of China. By integrating both retrospective and prospective study designs, the investigators will implement a observational ambispective cohort approach to comprehensively capture the natural history of the disease - including its onset, progression, and clinical outcomes - through systematic data collection from historical records and long-term follow-up of enrolled cases. In parallel, a biobank will be established by collecting biospecimens such as blood and skin samples from participants, providing high-quality biological materials for future research. Utilizing multi-omics technologies, including genomics, transcriptomics, epigenomics, etc., the investigators will explore key pathogenic genetic variants, disease-modifying factors, mechanisms underlying disease progression, biomarkers, and potential therapeutic targets. Through this integrated approach, the project is expected to significantly advance basic and translational research on hereditary ataxia, ultimately contributing to the development of precision diagnosis and effective intervention strategies for these debilitating neurodegenerative disorders.
- Conditions
- Hereditary Ataxia
- Being tested
- None of intervention
- Keywords
- multiomics, clinical and genetic characteristics
- Medical subject headings
- Spinocerebellar Degenerations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
None of interventionOther
No specific intervention was implemented in this study.
| Study group | Role | What they receive |
|---|---|---|
| HA Cohort | Patients with clinical suspected or genetic-confirmed hereditary ataxia Receives: Other: None of intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
SARA scores
Scale for the Assessment and Rating of Ataxia (SARA) is a widely used tool specifically developed to quantify the severity of ataxia. It assesses multiple domains of ataxia, including gait, stance, sitting, speech, finger chase, nose-finger test, fast alternating hand movements, and heel-shin slide. It is applicable to patients with various forms of ataxia and provides a standardized method for tracking disease progression.
- Minimum value: 0
- Maximum value: 40
- Interpretation: Higher scores indicate more severe ataxia (worse outcome).
Measured: 10 years
ICARS scores
As a comprehensive assessment tool, International Cooperative Ataxia Rating Scale (ICARS) evaluates four main components of ataxia: postural and gait disturbances, limb ataxia, dysarthria, and oculomotor disorders. It is commonly used in clinical research and practice to measure the overall severity of ataxia, allowing for comparisons across different studies and patient populations.
- Minimum value: 0
- Maximum value: 100
- Interpretation: Higher scores indicate more severe ataxia (worse outcome).
Measured: 10 years
SDFS scores
Spinocerebellar Degeneration Functional Score (SDFS) focuses on assessing the functional status of patients with spinocerebellar degeneration by evaluating their ability to perform daily activities related to mobility. It ranges from 0 to 7：
- 0: no functional handicap;
- 1: no functional handicap but signs at examination;
- 2: mild, able to run, walking unlimited;
- 3: moderate, unable to run, limited walking without help;
- 4: severe, walking with one stick;
- 5: walking with two sticks;
- 6: unable to walk, requiring wheelchair;
- 7: confined to the bed.
- Interpretation: Higher scores indicate worse functional status (worse outcome).
Measured: 10 years
MMSE scores
Mini-Mental State Examination (MMSE) is a brief screening tool used to assess cognitive function, including orientation, registration, attention and calculation, recall, and language. It is widely employed to detect cognitive impairment and monitor changes in cognitive status over time in various neurological disorders.
- Minimum value: 0
- Maximum value: 30
- Interpretation: Higher scores indicate better cognitive function (better outcome).
Measured: 10 years
MoCA scores
Montreal Cognitive Assessment (MoCA) is a more sensitive tool than MMSE for detecting mild cognitive impairment. It assesses multiple cognitive domains, including attention, concentration, executive functions, memory, language, visuoconstructional skills, conceptual thinking, calculations, and orientation. It is particularly useful in identifying early cognitive changes in neurodegenerative diseases.
- Minimum value: 0
- Maximum value: 30
- Interpretation: Higher scores indicate better cognitive function (better outcome; typically, a score ≥26 is considered normal).
Measured: 10 years
Disease-associated pathogenic genomic variants
By utilizing human genomic DNA research techniques such as polymerase chain reaction, Sanger sequencing, next-generation sequencing, and long-read sequencing, the reasonable pathogenic variants (including tandem repeat expansions, conventional sequencing variants, and copy number variations, etc.) that cause the symptom spectrum in particpants are identified and reported, in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG) and the Human Genome Variation Society (HGVS).
Measured: Until the patient's causative variant(s) is definitively identified.
Disease-causative genes
The participants' causative genes harboring pathogenic variants are reported in accordance with the guidelines established by the HUGO Gene Nomenclature Committee (HGNC).
Measured: Until the patient's causative gene(s) is definitively identified.
Serum neurofilament light chain levels
Serum neurofilament light chain levels in participants are measured using single-molecule array (Simoa) technology.
Measured: 10 years
Genome-wide methylation profiles in peripheral blood leukocytes
Genome-wide methylation profiles of participants will be measured using whole genome bisulfite sequencing (WGBS). The analysis will quantify methylation levels across all CpG sites in the genome of peripheral blood leukocytes, with methylation level defined as the ratio of methylated cytosines to total cytosines (methylated + unmethylated) at each CpG site. Genome-wide methylation profiles will be reported as the respective or average methylation ratio across all profiled CpG sites, with data normalized according to the ENCODE Consortium guidelines for WGBS data.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jul 2025
- Study start1 Jun 2025
- Primary completion30 Jun 2035 (estimated)
- Study completion31 Dec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary AtaxiaStudies of the same condition, open and under way.
- More trials run by Second Affiliated Hospital, Zhejiang University, School of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 5,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Huashan Hospital
- Responsible party
- Sponsor
- Investigators
- Zhi-Ying Wu, M.D&Ph.D, Study chair, Second Affiliated Hospital of Zhejiang University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07092358
- Sponsor's protocol ID
- 2015-048-HARMONY
- Acronym
- HARMONY
- Status last verified
- Jun 2025
- First submitted
- 13 Jul 2025
- Last updated
- 29 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Hereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta
- ClinicalTrials.gov ID
- NCT07092358
- Acronym / sponsor ID
- HARMONY / 2015-048-HARMONY
- Conditions
- Hereditary Ataxia
- Keywords
- multiomics, clinical and genetic characteristics
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- Second Affiliated Hospital, Zhejiang University, School of MedicineUniversity, hospital or other
- Collaborators
- Huashan Hospital
- Study start
- 1 Jun 2025 (actual)
- Primary completion
- 30 Jun 2035 (estimated)
- Study completion
- 31 Dec 2035 (estimated)
- First posted
- 29 Jul 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The goal of this observational study is to explore the clinical and genetic characteristics, multi-omics profiles, disease mechanisms, biomarkers, and potential therapeutic targets of hereditary ataxia (HA) in patients diagnosed with HA, primarily in the Yangtze River Delta region of China. The main questions it aims to answer are:
- What are the key pathogenic genetic variants, modifying factors and special inheritance patterns underlying HA?
- How do multi-omics profiles correlate with clinical phenotypes, disease progress and mechanism in HA patients?
- What are the implications of these findings for clinical practice?
Participants will:
- Undergo retrospective and prospective clinical data collection through long-term follow-up to observe disease onset, progression, and outcomes.
- Provide biological samples (e.g., blood, skin) to establish a biobank for multi-omics analyses.
- Be characterized using multidimensional omics technologies to identify disease-related molecular signatures, progression mechanisms, and potential regulatory targets.
Detailed description
This project aims to establish a representative and continuously expanding cohort of hereditary ataxia in the Yangtze River Delta region of China. By integrating both retrospective and prospective study designs, the investigators will implement a observational ambispective cohort approach to comprehensively capture the natural history of the disease - including its onset, progression, and clinical outcomes - through systematic data collection from historical records and long-term follow-up of enrolled cases. In parallel, a biobank will be established by collecting biospecimens such as blood and skin samples from participants, providing high-quality biological materials for future research. Utilizing multi-omics technologies, including genomics, transcriptomics, epigenomics, etc., the investigators will explore key pathogenic genetic variants, disease-modifying factors, mechanisms underlying disease progression, biomarkers, and potential therapeutic targets. Through this integrated approach, the project is expected to significantly advance basic and translational research on hereditary ataxia, ultimately contributing to the development of precision diagnosis and effective intervention strategies for these debilitating neurodegenerative disorders.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| HA Cohort | – | Other: None of interventionPatients with clinical suspected or genetic-confirmed hereditary ataxia |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Chinese patients concentrated in the Yangtze River Delta region.
Key inclusion criteria (4 listed)
- Presence of progressive ataxia as a primary or persistent clinical feature;
- Sufficient evidence to exclude acquired causes of ataxia (e.g., chronic intoxication, immune-mediated inflammation, acquired vitamin deficiency, acute injury, stroke, infection, or space-occupying disorders);
- For sporadic late-onset cases (≥30 years), disease duration must exceed 3 years, with no prominent progressive autonomic dysfunction or other features indicative of multiple system atrophy-cerebellar type (MSA-C);
- Ability and willingness of the participant or legal guardian to provide informed consent and complete the entire study process.
Key exclusion criteria (4 listed)
- Patients whose causative genes identified through genetic testing and analysis do not fall within the defined spectrum of hereditary ataxias, based on consensus classifications from the MDS Task Force on Genetic Movement Disorders and the SRCA Working Group, along with current research advancements;
- Presence of concurrent cerebrovascular disease, brain tumors, or severe systemic illness;
- Refusal to sign informed consent or provide biological samples by the participant or legal representative;
- Inability or unwillingness to participate in follow-up assessments.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| None of interventionNo specific intervention was implemented in this study. | Other | HA Cohort |
Primary outcome
SARA scores
Time frame: 10 years
Scale for the Assessment and Rating of Ataxia (SARA) is a widely used tool specifically developed to quantify the severity of ataxia. It assesses multiple domains of ataxia, including gait, stance, sitting, speech, finger chase, nose-finger test, fast alternating hand movements, and heel-shin slide. It is applicable to patients with various forms of ataxia and provides a standardized method for tracking disease progression. * Minimum value: 0 * Maximum value: 40 * Interpretation: Higher scores indicate more severe ataxia (worse outcome).
ICARS scores
Time frame: 10 years
As a comprehensive assessment tool, International Cooperative Ataxia Rating Scale (ICARS) evaluates four main components of ataxia: postural and gait disturbances, limb ataxia, dysarthria, and oculomotor disorders. It is commonly used in clinical research and practice to measure the overall severity of ataxia, allowing for comparisons across different studies and patient populations. * Minimum value: 0 * Maximum value: 100 * Interpretation: Higher scores indicate more severe ataxia (worse outcome).
SDFS scores
Time frame: 10 years
Spinocerebellar Degeneration Functional Score (SDFS) focuses on assessing the functional status of patients with spinocerebellar degeneration by evaluating their ability to perform daily activities related to mobility. It ranges from 0 to 7： * 0: no functional handicap; * 1: no functional handicap but signs at examination; * 2: mild, able to run, walking unlimited; * 3: moderate, unable to run, limited walking without help; * 4: severe, walking with one stick; * 5: walking with two sticks; * 6: unable to walk, requiring wheelchair; * 7: confined to the bed. * Interpretation: Higher scores indicate worse functional status (worse outcome).
MMSE scores
Time frame: 10 years
Mini-Mental State Examination (MMSE) is a brief screening tool used to assess cognitive function, including orientation, registration, attention and calculation, recall, and language. It is widely employed to detect cognitive impairment and monitor changes in cognitive status over time in various neurological disorders. * Minimum value: 0 * Maximum value: 30 * Interpretation: Higher scores indicate better cognitive function (better outcome).
MoCA scores
Time frame: 10 years
Montreal Cognitive Assessment (MoCA) is a more sensitive tool than MMSE for detecting mild cognitive impairment. It assesses multiple cognitive domains, including attention, concentration, executive functions, memory, language, visuoconstructional skills, conceptual thinking, calculations, and orientation. It is particularly useful in identifying early cognitive changes in neurodegenerative diseases. * Minimum value: 0 * Maximum value: 30 * Interpretation: Higher scores indicate better cognitive function (better outcome; typically, a score ≥26 is considered normal).
Disease-associated pathogenic genomic variants
Time frame: Until the patient's causative variant(s) is definitively identified.
By utilizing human genomic DNA research techniques such as polymerase chain reaction, Sanger sequencing, next-generation sequencing, and long-read sequencing, the reasonable pathogenic variants (including tandem repeat expansions, conventional sequencing variants, and copy number variations, etc.) that cause the symptom spectrum in particpants are identified and reported, in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG) and the Human Genome Variation Society (HGVS).
Disease-causative genes
Time frame: Until the patient's causative gene(s) is definitively identified.
The participants' causative genes harboring pathogenic variants are reported in accordance with the guidelines established by the HUGO Gene Nomenclature Committee (HGNC).
Serum neurofilament light chain levels
Time frame: 10 years
Serum neurofilament light chain levels in participants are measured using single-molecule array (Simoa) technology.
Genome-wide methylation profiles in peripheral blood leukocytes
Time frame: 10 years
Genome-wide methylation profiles of participants will be measured using whole genome bisulfite sequencing (WGBS). The analysis will quantify methylation levels across all CpG sites in the genome of peripheral blood leukocytes, with methylation level defined as the ratio of methylated cytosines to total cytosines (methylated + unmethylated) at each CpG site. Genome-wide methylation profiles will be reported as the respective or average methylation ratio across all profiled CpG sites, with data normalized according to the ENCODE Consortium guidelines for WGBS data.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jul 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Zhi-Ying Wu, M.D&Ph.D study chair
Second Affiliated Hospital of Zhejiang University School of Medicine
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Ataxia, run by Second Affiliated Hospital, Zhejiang University, School of Medicine at 2 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jin-Yang Yu (86 + 18858178162, jinyangyu@zju.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
SARA scores (time frame: 10 years). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Jul 2025.