Research on genetic markers in inherited movement disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Hôpital Pitié Salpetrière
  Paris, France Recruiting

Study contacts

• Study coordinator: Alexandra DURR, PUPH
• Email: alexandra.durr@aphp.fr
• Phone: 142161347

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Registry and natural history of epilepsy-dyskinesia syndromes

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.