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Naturhistorien til familiær dysautonomi

2. november 2026 oppdatert av: NYU Langone Health

Natural History of familiær dysautonomi

The study will collect clinical information from patients with FD and allow them to give blood to help develop biological markers of the disease to aid diagnosis and treatment.

This is a non-invasive, non-interventional, observation study that poses only minimal risk for participants. The study will document the clinical features of patients with FD overtime by storing their routine clinical test results in a central database. The study will involve collaborators at other specialist clinics around the world who follow/evaluate patients with FD annually. Providing blood for future use is optional.

Studieoversikt

Status

Rekruttering

Forhold

Detaljert beskrivelse

Define the phenotypic characteristics, severity and clinical evolution of FD on a patient-by patient basis. Investigators will enroll patients with FD in a multi-center observational natural history study to evaluate their biochemical, neurological and autonomic phenotype. Investigators will follow patients to systematically study the onset and scaled severity of all clinical problems. Investigators will define progression rates of patients outside of a clinical trial to distinguish between static and progressive features, a challenge in congenital neuropathies. Investigators will continue banking blood to look for ways to monitor the disease phenotypes. Biomarkers that quantify renal, cardiovascular, respiratory, skeletal and cognitive aspects of the disease will be evaluated. This information is relevant when monitoring toxicity to drugs in clinical trials. Detailed clinical follow-up of patients with FD will allow investigators to determine when standard of care therapies (e.g., non-invasive ventilation, gastrostomy feedings) should be initiated and how these impact survival outcomes.

Specific Aim 2: Develop ways to measure progressive neurological deficits as outcome measures for future clinical trials. Investigators will test the hypothesis that worsening gait ataxia and progressive visual loss are caused by ongoing neuronal degeneration. Investigators will develop precise outcome measures based on these deficits to test the efficacy of new treatments. Investigators will prospectively evaluate longitudinal changes in the retinal structure (with optical coherence tomography) and visual function in a cohort of patients with FD. Investigators will determine the extent and severity of retinal abnormalities in all patients and how they change overtime. Investigators will establish whether structural abnormalities in the retina are correlated with disease severity and look for functional correlates as measured by visual acuity and color discrimination. Following the recent discovery that gait ataxia in patients with FD is the result of sensory deficits, investigators will perform quantitative assessments of passive joint angle matching at the knee to measure proprioceptive acuity. Investigators will determine how these measures change overtime as well as their impact on daily function and quality of life.

An organized, multi-site natural history study of patients with FD will enable investigators to define disease-specific outcomes for testing new therapies, a major breakthrough for these patients. The study also offers a unique opportunity to understand better how the brain develops when devoid of crucial sensory inputs.

Studietype

Observasjonsmessig

Registrering (Antatt)

400

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Navn: Horacio Kaufmann, MD
E-post: horacio.kaufmann@nyulangone.org

Studer Kontakt Backup

Navn: Britney A. Paredes Lopez
Telefonnummer: 2122637225
E-post: Britney.ParedesLopez@nyulangone.org

Studiesteder

Forente stater
- New York
  - New York, New York, Forente stater, 10016
    - Rekruttering
    - Dysautonomia Center - School of Medicine -NYU Langone Medical Center
    - Hovedetterforsker:
      
      Horacio Kaufmann, MD
    - Ta kontakt med:
      
      Horacio Kaufmann, MD
      
      E-post: horacio.kaufmann@nyulangone.org
    - Ta kontakt med:
      
      Britney A. Paredes Lopez
      
      Telefonnummer: 2122637225
      
      E-post: Britney.ParedesLopez@nyulangone.org
Israel
- Ramat Gan
  - Tel HaShomer, Ramat Gan, Israel, 52621
    - Rekruttering
    - Sheba Medical Center - Safra Children's Hospital
    - Ta kontakt med:
      
      Bat El Bar Aluma, MD
      
      Telefonnummer: +972 52 666 8335
      
      E-post: BatEl.BarAluma@sheba.health.gov.il
    - Ta kontakt med:
      
      Reut Ramon, MPH
      
      Telefonnummer: +972 52 666 7031
      
      E-post: Reut.Ramon@sheba.health.gov.il

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

4 år og eldre (Barn, Voksen, Eldre voksen)

Tar imot friske frivillige

Nei

Kjønn som er kvalifisert for studier

Alle

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

This study will involve as many as 400 human subjects. Registered patients range from 3 months to 66-years in age. This is a natural history study that will collect information obtained as standard of care from patients with FD.

The study will involve children as it is a genetic disease with onset at birth. Adult patients will also be enrolled.

Beskrivelse

Inclusion Criteria:

Patients of any age with a diagnosis of familial dysautonomia (FD) with molecular confirmation of the IKBKAP mutation.
Ability to provide informed consent (or assent) and comply with the study protocol

Exclusion Criteria:

Subjects that do not wish to be a part of the study.

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Observasjonsmodeller: COHORT
Tidsperspektiver: PROSPECTIVE

Antall grupper / kohorter

Kohorter og intervensjoner

Gruppe / Kohort
Familial Dysautonomia Patients diagnosed with familial dysautonomia, a genetic disorder that affects the development and survival of nerve cells in the autonomic nervous system. It primarily affects neurons that control involuntary actions like regulation of blood pressure and breathing. It also affects the sensory nervous system and the perception of pain, heat and cold.

Hva måler studien?

Primære resultatmål

Resultatmål	Tiltaksbeskrivelse	Tidsramme
1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core Tidsramme: 5 years	Investigators will create an enrollment database of patients with familial dysautonomia. All patients will have standardized phenotypic evaluations that will combine clinical, physiological and biochemical strategies to characterize complex autonomic phenotypes, both known and still undiscovered.	5 years

Sekundære resultatmål

Resultatmål	Tiltaksbeskrivelse	Tidsramme
To define the natural history of visual function and identify predictive biomarkers of disease progression and severity. Tidsramme: 5 years	Investigators will map the natural history of visual function including retinal structure and visual acuity and test the hypothesis that worsening visual loss is caused by ongoing neuronal degeneration.	5 years
To define the natural history of gait ataxia and identify predictive biomarkers of disease progression and severity Tidsramme: 5 years	Investigators will map the natural history of gait ataxia and test the hypothesis that progressive ataxia is correlated with increasing loss of proprioceptive acuity caused by ongoing death of sensory neurons.	5 years

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

NYU Langone Health

Etterforskere

Hovedetterforsker: Horacio Kaufmann, MD, NYU Langone Health

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

22. februar 2017

Primær fullføring (Antatt)

21. februar 2027

Studiet fullført (Antatt)

31. desember 2028

Datoer for studieregistrering

Først innsendt

4. april 2019

Først innsendt som oppfylte QC-kriteriene

15. april 2019

Først lagt ut (Faktiske)

19. april 2019

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

4. november 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

2. november 2026

Sist bekreftet

1. november 2026

Mer informasjon

Begreper knyttet til denne studien

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

16-01774

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .