Research on genetic markers in inherited movement disorders
Biomarker Research in Inherited Movement Disorders
This study is trying to learn more about the genetic causes of inherited movement disorders, like spinocerebellar ataxias and hyperkinetic disorders, by looking at patients and their families to see how these conditions affect them.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 4000 (estimated) |
| Ages | 7 Years and up |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Paris) |
| Trial ID | NCT05034172 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on inherited movement disorders, including spinocerebellar ataxias and hyperkinetic disorders. It aims to explore the genetic background and clinical expressions of these rare conditions, which affect a small percentage of the population. The study will involve clinical follow-up of patients diagnosed with these disorders and at-risk individuals, assessing their genetic profiles and clinical manifestations. By integrating data from the National Reference Centre for Rare Diseases, the research seeks to enhance understanding of the shared pathogenesis and potential biomarkers for these conditions.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 7 years and older with a clinical diagnosis of inherited hyperkinetic movement disorders, as well as at-risk individuals aged 18 and older with a family history of these disorders.
Not a fit: Patients without a clinical diagnosis of inherited hyperkinetic movement disorders or those without a familial connection to the disease may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and management of inherited movement disorders.
How similar studies have performed: Other studies have shown promise in exploring genetic markers in similar conditions, suggesting a potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: Common inclusion criteria for all participants: \- - Affiliated with a social security system or beneficiary of such a regime Group of patients: Any patient with inherited hyperkinetic movement disorders can be included in the study according to the following criteria: Woman or man; * Clinical diagnosis of inherited hyperkinetic movement disorders with or without a genetic diagnosis * With or without familial history of the disease * Age ≥ 7 years; * Signed Informed consent by the patient or both of holders of the parental authority for minors, or by the le;gal guardian for adults under guardianship Group of at-risk individuals: * Woman or man; * Age ≥ 18 years old; * A first-degree relative of a patient with inherited hyperkinetic movement disorders * OR a carrier of an identified pathogenic variant or expansion in one of the pathological gene variant involved in one of these diseases; * Normal neurological examination; according to disease specific scales * Signed Informed consent by the subject or by the legal guardian for adults under guardianship Group of healthy controls: * Woman or man; * Aged ≥ 18 years old; * Free of known neurological pathology; * No significant neurological symptoms; * Signed Informed consent by the subject Common inclusion criteria for elective participant for skin biopsy (optional): - Age ≥10 ans * Ability to undergo a skin biopsy Common inclusion criteria for elective participant for MRI examination (optional): - Ability to undergo a MRI. Exclusion Criteria: Absolute criteria for non-inclusion for all groups: \- Person deprived of their liberty by judicial decision Contra-indications to MRI examination\* (optional): metallic implant, pacemaker, artificial heart valve, brain vascular malformation, aneurysm clips, exposed by metallic fragments, artificial implants, peripheral or neuronal stimulator, insulin pump, intravenous catheter, epilepsy, metallic contraceptive device, claustrophobia, Contra-indication to skin biopsy (optional): * Taking anticoagulant or antiplatelet medication (see above), * History of hemostasis disorders, * Presence of hemorrhagic risk verified by a coagulation test
Where this trial is running
Paris
- Hôpital Pitié Salpetrière — Paris, France (Recruiting)
Study contacts
- Study coordinator: Alexandra DURR, PUPH
- Email: alexandra.durr@aphp.fr
- Phone: 142161347
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.