6109: The Natural History of Synucleinopathies (optional skin biopsy)

Status: Recruiting

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Study Summary

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

The purpose of this study is to learn about a new way of diagnosing and monitoring neurodegenerative or other diseases that affect the autonomic nervous system. Examples include Parkinson’s disease, multiple system atrophy and pure autonomic failure. Specifically, we hope to learn whether small skin biopsies can be used as a novel method of detecting disease and monitoring for changes in the disease over time.

For Diseases:

  • Multiple System Atrophy (possible or probable)
  • Parkinson’s Disease or Lewy Body Dementia

Background

Finding a reliable, accessible and inexpensive biomarker for neurodegenerative disorders is an urgent priority. A suitable biomarker could improve the accuracy of diagnosis, identify patients in the early stages of an autonomic disease and provide improvements in clinical practice and increase the development of novel treatments.

Eligible participants with multiple system atrophy (central autonomic failure) and supine hypertension (high blood pressure while lying down) will be studied in a randomized, interventional study. During the study, you will be asked to stop taking any medication that may alter your blood pressure for up to seven days prior to the study days. If we don’t stop these medications, the results of the tests may be difficult to interpret and may fool us into believing that your autonomic system is not working well. If you cannot tolerate stopping your medications, we will restart them immediately but you will not be able to be in the study.

This is a longitudinal study of 64 people with orthostatic hypotension and/or Parkinson’s disease, Dementia with Lewy Bodies or Multiple System Atrophy.  Participants may be co-enrolled in the research study titled “The Natural History of Synucleinopathies”.

If you take part in this study, you will be asked to read and sign this consent form.  Each study visit will take approximately 4-6 hours. If you are enrolled in the Natural History Study, there will be a total of 5 visits for a period of 5 years. If you are not enrolled in the Natural History Study, there will be a total of 2 visits over a period of 3 years.  After you sign the consent form, the following things will happen:

Screening Procedures:

Screening procedures are tests and procedures that will be done to determine if you are eligible to take part in the research study.  For this research study, the screening procedures include: review of your medical history, including review of your medical records, consultations and/or testing to assure that eligibility requirements are met. Historical and new data will be collected at the day of your visit.

Research Procedures:

If you qualify to take part in this research study, you will undergo the following research procedures.

  • Completion of multiple questionnaires
  • Skin biopsy procedure.

If you are not currently participating in the Natural History Study, the following additional procedures may be performed:

  • Additional questionnaires
  • Structured neurological examinations
  • Presence of sleep disordered breathing/Rem sleep behavior disorder
  • Olfactory function testing (UPSIT):  This is a scratch and sniff booklet to assess your sense of smell.
  • Autonomic tests (measures blood pressure and heart rate at differing degrees on a tilt table)
  • Sudomotor function tests (monitors sweat function)

Follow up:

If you are enrolled in the Natural History study, you will be asked to come back every year for a total of 5 years. If you are not enrolled in the Natural History study, you will be asked to comeback for a single follow-up visit scheduled at year 3. We will perform all research assessments and questionnaires, with the exception of skin biopsies.

To be eligible to participate, you must:

  • Male and female participants aged 18 or over
    • Enrolled in the Natural History of Synucleinopathies study with a diagnosis of:
      • Neurogenic orthostatic hypotension in pure autonomic failure or
      • Diagnosis of probable parkinson’s disease or probable dementia with Lewy bodies or
      • A diagnosis of (possible or probable) multiple system atrophy

OR

  • For individuals entering from outside the natural history study: a diagnosis of probable parkinson’s disease, probable multiple system atrophy or probable pure autonomic failure:
    • A diagnosis of neurogenic orthostatic hypotension is not required

OR

  • Participants with no underlying disease to serve as healthy control subjects

You are not eligible to participate if:

  • You have sensory or motor features consistent with a peripheral neuropathy (e.g., diabetes mellitus, amyloidosis) which in the investigators opinion is the cause of their neurogenic orthostatic hypotension.
  • You have drug induced hypotension or a systemic illness thought to be the cause of theirneurogenic orthostatic hypotension.
  • You have known bleeding disorders, on anticoagulants (warfarin, acetylsalicylic acid and clopidogrel simultaneously, or other combinations of agents that would impair wound healing).
  • You have clinically significant peripheral vascular disease
  • You take medication that could impair testing, or nerve fiber function.
  • You have a history of alcohol abuse or renal failure or history of exposure to neurotoxic medication.
  • You have a history of allergy to lidocaine

Stay Connected - Join the Contact Regsitry

The RDCRN Autonomic Disorders Consortium Contact Registry is a way for patients with rare diseases and their family members to learn about research studies they may be able to join.

Learn More

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

Massachusetts